LOCUS BMP5 2207 bp mRNA linear PRI 08-NOV-2002 DEFINITION Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. ACCESSION NM_021073 VERSION NM_021073.2 GI:24797149 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2207) AUTHORS Celeste,A.J., Iannazzi,J.A., Taylor,R.C., Hewick,R.M., Rosen,V., Wang,E.A. and Wozney,J.M. TITLE Identification of transforming growth factor beta family members present in bone-inductive protein purified from bovine bone JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (24), 9843-9847 (1990) MEDLINE 91088608 PUBMED 2263636 REFERENCE 2 (bases 1 to 2207) AUTHORS Hahn,G.V., Cohen,R.B., Wozney,J.M., Levitz,C.L., Shore,E.M., Zasloff,M.A. and Kaplan,F.S. TITLE A bone morphogenetic protein subfamily: chromosomal localization of human genes for BMP5, BMP6, and BMP7 JOURNAL Genomics 14 (3), 759-762 (1992) MEDLINE 93052412 PUBMED 1427904 REFERENCE 3 (bases 1 to 2207) AUTHORS Sakaue,M., Kitazawa,S., Nishida,K., Kitazawa,R. and Maeda,S. TITLE Molecular cloning and characterization of human bone morphogenic protein (BMP)-5 gene promoter JOURNAL Biochem. Biophys. Res. Commun. 221 (3), 768-772 (1996) MEDLINE 96205351 PUBMED 8630036 REFERENCE 4 (bases 1 to 2207) AUTHORS Jin,Y., Lu,H.B., Liong,E., Lau,T.Y. and Tipoe,G.L. TITLE Transcriptional mRNA of BMP-2, 3, 4 and 5 in trigeminal nerve, benign and malignant peripheral nerve sheath tumors JOURNAL Histol Histopathol 16 (4), 1013-1019 (2001) MEDLINE 21520394 PUBMED 11642720 REFERENCE 5 (bases 1 to 2207) AUTHORS Luo,J., Dunn,T., Ewing,C., Sauvageot,J., Chen,Y., Trent,J. and Isaacs,W. TITLE Gene expression signature of benign prostatic hyperplasia revealed by cDNA microarray analysis JOURNAL Prostate 51 (3), 189-200 (2002) MEDLINE 22022225 PUBMED 11967953 REFERENCE 6 (bases 1 to 2207) AUTHORS Wordinger,R.J., Agarwal,R., Talati,M., Fuller,J., Lambert,W. and Clark,A.F. TITLE Expression of bone morphogenetic proteins (BMP), BMP receptors, and BMP associated proteins in human trabecular meshwork and optic nerve head cells and tissues JOURNAL Mol. Vis. 8, 241-250 (2002) MEDLINE 22126715 PUBMED 12131877 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC027958.1. On Nov 8, 2002 this sequence version replaced gi:10835090. Summary: This gene encodes a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as prepropeptides, cleaved, and then processed into dimeric proteins. This protein may act as an important signaling molecule within the trabecular meshwork and optic nerve head, and may play a potential role in glaucoma pathogenesis. This gene is differentially regulated during the formation of various tumors. COMPLETENESS: full length. FEATURES Location/Qualifiers source 1..2207 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p11.1" /clone="MGC:34244 IMAGE:5209637" /clone_lib="NIH_MGC_122" gene 1..2207 /gene="BMP5" /note="synonym: MGC34244" /db_xref="LocusID:653" /db_xref="MIM:112265" misc_feature 123 /gene="BMP5" /note="transcriptional start site" /citation=[3] /evidence=experimental CDS 713..2077 /gene="BMP5" /codon_start=1 /product="bone morphogenetic protein 5 preproprotein" /protein_id="NP_066551.1" /db_xref="GI:10835091" /db_xref="LocusID:653" /db_xref="MIM:112265" /translation="MHLTVFLLKGIVGFLWSCWVLVGYAKGGLGDNHVHSSFIYRRLR NHERREIQREILSILGLPHRPRPFSPGKQASSAPLFMLDLYNAMTNEENPEESEYSVR ASLAEETRGARKGYPASPNGYPRRIQLSRTTPLTTQSPPLASLHDTNFLNDADMVMSF VNLVERDKDFSHQRRHYKEFRFDLTQIPHGEAVTAAEFRIYKDRSNNRFENETIKISI YQIIKEYTNRDADLFLLDTRKAQALDVGWLVFDITVTSNHWVINPQNNLGLQLCAETG DGRSINVKSAGLVGRQGPQSKQPFMVAFFKASEVLLRSVRAANKRKNQNRNKSSSHQD SSRMSSVGDYNTSEQKQACKKHELYVSFRDLGWQDWIIAPEGYAAFYCDGECSFPLNA HMNATNHAIVQTLVHLMFPDHVPKPCCAPTKLNAISVLYFDDSSNVILKKYRNMVVRS CGCH" misc_feature 815..1627 /gene="BMP5" /note="TGFb_propeptide; Region: TGF-beta propeptide. This propeptide is known as latency associated peptide (LAP) in TGF-beta. LAP is a homodimer which is disulfide linked to TGF-beta binding protein" /db_xref="CDD:pfam00688" mat_peptide 1679..2074 /gene="BMP5" /product="bone morphogenetic protein 5" misc_feature 1763..2074 /gene="BMP5" /note="TGF-beta; Region: Transforming growth factor beta like domain" /db_xref="CDD:pfam00019" misc_feature 1769..2074 /gene="BMP5" /note="TGFB; Region: Transforming growth factor-beta (TGF-beta) family" /db_xref="CDD:smart00204" misc_feature 803..2074 /gene="BMP5" /note="bone morphogenetic protein 5 proprotein" polyA_signal 2131..2136 /gene="BMP5" polyA_site 2172 /gene="BMP5" /evidence=experimental BASE COUNT 737 a 424 c 458 g 588 t ORIGIN 1 ctcttgaaga gggctggtat atttgtgcct gctggaggtg gaattaacag taagaaggag 61 aaagggattg aatggactta caggaaggat ttcaagtaaa ttcagggaaa cacatttact 121 tgaatagtac aacctagagt attattttac actaagacga cacaaaagat gttaaagtta 181 tcaccaagct gccggacaga tatatattcc aacaccaagg tgcagatcag catagatctg 241 tgattcagaa atcaggattt gttttggaaa gagctcaagg gttgagaaga actcaaaagc 301 aagtgaagat tactttggga actacagttt atcagaagat caacttttgc taattcaaat 361 accaaaggcc tgattatcat aaattcatat aggaatgcat aggtcatctg atcaaataat 421 attagccgtc ttctgctaca tcaatgcagc aaaaactctt aacaactgtg gataattgga 481 aatctgagtt tcagctttct tagaaataac tactcttgac atattccaaa atatttaaaa 541 taggacagga aaatcggtga ggatgttgtg ctcagaaatg tcactgtcat gaaaaatagg 601 taaatttgtt ttttcagcta ctgggaaact gtacctccta gaaccttagg tttttttttt 661 ttttaagagg acaagaagga ctaaaaatat caacttttgc ttttggacaa aaatgcatct 721 gactgtattt ttacttaagg gtattgtggg tttcctctgg agctgctggg ttctagtggg 781 ttatgcaaaa ggaggtttgg gagacaatca tgttcactcc agttttattt atagaagact 841 acggaaccac gaaagacggg aaatacaaag ggaaattctc tctatcttgg gtttgcctca 901 cagacccaga ccattttcac ctggaaaaca agcgtcctct gcacctctct ttatgctgga 961 tctctacaat gccatgacca atgaagaaaa tcctgaagag tcggagtact cagtaagggc 1021 atccttggca gaagagacca gaggggcaag aaagggatac ccagcctctc ccaatgggta 1081 tcctcgtcgc atacagttat ctcggacgac tcctctgacc acccagagtc ctcctctagc 1141 cagcctccat gataccaact ttctgaatga tgctgacatg gtcatgagct ttgtcaactt 1201 agttgaaaga gacaaggatt tttctcacca gcgaaggcat tacaaagaat ttcgatttga 1261 tcttacccaa attcctcatg gagaggcagt gacagcagct gaattccgga tatacaagga 1321 ccggagcaac aaccgatttg aaaatgaaac aattaagatt agcatatatc aaatcatcaa 1381 ggaatacaca aatagggatg cagatctgtt cttgttagac acaagaaagg cccaagcttt 1441 agatgtgggt tggcttgtct ttgatatcac tgtgaccagc aatcattggg tgattaatcc 1501 ccagaataat ttgggcttac agctctgtgc agaaacaggg gatggacgca gtatcaacgt 1561 aaaatctgct ggtcttgtgg gaagacaggg acctcagtca aaacaaccat tcatggtggc 1621 cttcttcaag gcgagtgagg tacttcttcg atccgtgaga gcagccaaca aacgaaaaaa 1681 tcaaaaccgc aataaatcca gctctcatca ggactcctcc agaatgtcca gtgttggaga 1741 ttataacaca agtgagcaaa aacaagcctg taagaagcac gaactctatg tgagcttccg 1801 ggatctggga tggcaggact ggattatagc accagaagga tacgctgcat tttattgtga 1861 tggagaatgt tcttttccac ttaacgccca tatgaatgcc accaaccacg ctatagttca 1921 gactctggtt catctgatgt ttcctgacca cgtaccaaag ccttgttgtg ctccaaccaa 1981 attaaatgcc atctctgttc tgtactttga tgacagctcc aatgtcattt tgaaaaaata 2041 tagaaatatg gtagtacgct catgtggctg ccactaatat taaataatat tgataataac 2101 aaaaagatct gtattaaggt ttatggctgc aataaaaagc atactttcag acaaacgggg 2161 aatttcctaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaa // LOCUS TLL2 6753 bp mRNA linear PRI 05-NOV-2002 DEFINITION Homo sapiens tolloid-like 2 (TLL2), mRNA. ACCESSION NM_012465 VERSION NM_012465.2 GI:22547222 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 6753) AUTHORS Scott,I.C., Clark,T.G., Takahara,K., Hoffman,G.G., Eddy,R.L., Haley,L.L., Shows,T.B. and Greenspan,D.S. TITLE Assignment of TLL1 and TLL2, which encode human BMP-1/Tolloid-related metalloproteases, to chromosomes 4q32-->q33 and 10q23-->q24 and assignment of murine Tll2 to chromosome 19 JOURNAL Cytogenet. Cell Genet. 86 (1), 64-65 (1999) MEDLINE 99447609 PUBMED 10516436 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AB023149.1 and AF059516.1. On Aug 29, 2002 this sequence version replaced gi:6912723. Summary: This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. Unlike other family members, a similar protein in mice does not cleave procollagen C-propeptides or chordin. FEATURES Location/Qualifiers source 1..6753 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q23-q24" gene 1..6753 /gene="TLL2" /note="synonym: KIAA0932" /db_xref="LocusID:7093" /db_xref="MIM:606743" CDS 227..3274 /gene="TLL2" /codon_start=1 /product="tolloid-like 2" /protein_id="NP_036597.1" /db_xref="GI:6912724" /db_xref="LocusID:7093" /db_xref="MIM:606743" /translation="MPRATALGALVSLLLLLPLPRGAGGLGERPDATADYSELDGEEG TEQQLEHYHDPCKAAVFWGDIALDEDDLKLFHIDKARDWTKQTVGATGHSTGGLEEQA SESSPDTTAMDTGTKEAGKDGRENTTLLHSPGTLHAAAKTFSPRVRRATTSRTERIWP GGVIPYVIGGNFTGSQRAIFKQAMRHWEKHTCVTFIERTDEESFIVFSYRTCGCCSYV GRRGGGPQAISIGKNCDKFGIVAHELGHVVGFWHEHTRPDRDQHVTIIRENIQPGQEY NFLKMEAGEVSSLGETYDFDSIMHYARNTFSRGVFLDTILPRQDDNGVRPTIGQRVRL SQGDIAQARKLYKCPACGETLQDTTGNFSAPGFPNGYPSYSHCVWRISVTPGEKIVLN FTSMDLFKSRLCWYDYVEVRDGYWRKAPLLGRFCGDKIPEPLVSTDSRLWVEFRSSSN ILGKGFFAAYEATCGGDMNKDAGQIQSPNYPDDYRPSKECVWRITVSEGFHVGLTFQA FEIERHDSCAYDYLEVRDGPTEESALIGHFCGYEKPEDVKSSSNRLWMKFVSDGSINK AGFAANFFKEVDECSWPDHGGCEHRCVNTLGSYKCACDPGYELAADKKMCEVACGGFI TKLNGTITSPGWPKEYPTNKNCVWQVVAPAQYRISLQFEVFELEGNDVCKYDFVEVRS GLSPDAKLHGRFCGSETPEVITSQSNNMRVEFKSDNTVSKRGFRAHFFSDKDECAKDN GGCQHECVNTFGSYLCRCRNGYWLHENGHDCKEAGCAHKISSVEGTLASPNWPDKYPS RRECTWNISSTAGHRVKLTFNEFEIEQHQECAYDHLEMYDGPDSLAPILGRFCGSKKP DPTVASGSSMFLRFYSDASVQRKGFQAVHSTECGGRLKAEVQTKELYSHAQFGDNNYP SEARCDWVIVAEDGYGVELTFRTFEVEEEADCGYDYMEAYDGYDSSAPRLGRFCGSGP LEEIYSAGDSLMIRFRTDDTINKKGFHARYTSTKFQDALHMKK" misc_feature 692..1117 /gene="TLL2" /note="ZnMc; Region: Zinc-dependent metalloprotease" /db_xref="CDD:smart00235" misc_feature 695..1270 /gene="TLL2" /note="Astacin; Region: Astacin (Peptidase family M12A). The members of this family are enzymes that cleave peptides. These proteases require zinc for catalysis. Members of this family contain two conserved disulphide bridges, these are joined 1-4 and 2-3. Members of this family have an amino terminal propeptide which is cleaved to give the active protease domain. All other linked domains are found to the carboxyl terminus of this domain. This family includes: Astacin, a digestive enzyme from Crayfish. Meprin, a multiple domain membrane component that is constructed from a homologous alpha and beta chain. Proteins involved in morphogenesis, and Tolloid from drosophila" /db_xref="CDD:pfam01400" misc_feature 1277..1615 /gene="TLL2" /note="CUB; Region: Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein" /db_xref="CDD:smart00042" misc_feature 1277..1606 /gene="TLL2" /note="CUB; Region: CUB domain" /db_xref="CDD:pfam00431" misc_feature 1616..1948 /gene="TLL2" /note="CUB; Region: Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein" /db_xref="CDD:smart00042" misc_feature 1616..1945 /gene="TLL2" /note="CUB; Region: CUB domain" /db_xref="CDD:pfam00431" misc_feature 1952..2077 /gene="TLL2" /note="EGF_CA; Region: Calcium-binding EGF-like domain" /db_xref="CDD:smart00179" misc_feature 1961..2077 /gene="TLL2" /note="EGF; Region: Epidermal growth factor-like domain" /db_xref="CDD:smart00181" misc_feature 2084..2422 /gene="TLL2" /note="CUB; Region: Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein" /db_xref="CDD:smart00042" misc_feature 2084..2413 /gene="TLL2" /note="CUB; Region: CUB domain" /db_xref="CDD:pfam00431" misc_feature 2420..2542 /gene="TLL2" /note="EGF_CA; Region: Calcium-binding EGF-like domain" /db_xref="CDD:smart00179" misc_feature 2552..2890 /gene="TLL2" /note="CUB; Region: Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein" /db_xref="CDD:smart00042" misc_feature 2552..2881 /gene="TLL2" /note="CUB; Region: CUB domain" /db_xref="CDD:pfam00431" misc_feature 2891..3241 /gene="TLL2" /note="CUB; Region: Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein" /db_xref="CDD:smart00042" misc_feature 2891..3232 /gene="TLL2" /note="CUB; Region: CUB domain" /db_xref="CDD:pfam00431" BASE COUNT 1749 a 1555 c 1719 g 1730 t ORIGIN 1 gcagcctcgg ccgccgggca agtagctccg agcggctgct tcccggttgc ctcgacgaag 61 acagggggcg ccgcgctccg cttgctccgc gcctgagcca tgcccagcag ccctgtgtaa 121 ccaccgagtc ccggccggag ccgaccgacc cagtgtgcgc cgtctttcgg ccgagctgag 181 ctttcgtgca cgcaactccc tctgccccag ccggccccgc gccaccatgc cccgggcgac 241 tgcacttggg gccctggtgt cactgctgct gctgctgccg ctgcctcgcg gcgccggggg 301 actcggggag cgcccggacg ccaccgcaga ctactcagag ctggacggcg aggagggcac 361 ggagcagcag ctggagcatt accacgaccc ttgcaaagcc gctgtctttt ggggagacat 421 tgccttagat gaagatgact tgaagctgtt tcacattgac aaagccagag actggaccaa 481 gcagacagtg ggggcaacag gacacagcac aggtgggctt gaagagcagg catctgagag 541 cagcccagac accacagcca tggacactgg caccaaggaa gctggaaagg atggccggga 601 gaataccaca ctcctgcaca gccctgggac cttgcatgcc gcagccaaga ccttctctcc 661 ccgggtccga agagccacaa cctcaaggac agagaggata tggcctggag gagtcatccc 721 ctacgtcatt ggagggaact tcactgggag ccagagggcc atttttaagc aggccatgag 781 acactgggag aagcacacct gtgtgacctt catagaaagg acggatgagg aaagctttat 841 tgtattcagt tacagaacct gtggctgttg ctcctatgtt gggcgccgag gaggaggccc 901 acaggccata tccattggga agaactgtga caagtttggc attgtggctc acgagctggg 961 ccatgtggtt gggttttggc atgaacacac ccggccagac agagaccaac atgtcaccat 1021 catcagggaa aacatccagc caggtcagga gtataatttc ttaaaaatgg aagctgggga 1081 agtgagctct ctgggagaga catacgactt tgacagcatc atgcactacg cccggaacac 1141 cttctcaaga ggagttttct tagacaccat ccttccccgt caagatgaca atggcgtcag 1201 gccaaccatt ggccagcgcg tgcggctcag tcagggagac atagctcaag cccggaagct 1261 gtacaaatgc ccagcgtgtg gggagaccct gcaggacaca acgggaaact tttctgcacc 1321 tggtttccca aatgggtacc catcttactc ccactgcgtc tggaggatct cggtcacccc 1381 aggggaaaag atcgtattaa acttcacatc catggatttg tttaaaagcc gactgtgctg 1441 gtatgattac gtggaggtcc gggatggtta ctggagaaaa gccccccttt tgggcaggtt 1501 ttgtggcgat aagatcccgg agcccctcgt ctccacggac agccggctct gggtggagtt 1561 ccgcagcagc agcaacatct tgggcaaggg cttctttgca gcgtacgaag ctacctgcgg 1621 gggagacatg aacaaagatg ccggtcagat tcaatctccc aactatccgg atgactacag 1681 accttccaag gaatgtgtct ggaggattac ggtttcagag gggtttcacg tgggacttac 1741 cttccaagct tttgagattg aaaggcacga cagctgtgca tatgactacc tggaagtccg 1801 ggatggcccc acggaagaga gtgccctgat cggccacttt tgtggctatg agaagccgga 1861 ggatgtgaaa tcgagctcca acagactgtg gatgaagttt gtgtccgatg gctctatcaa 1921 taaagcgggc tttgcagcca attttttcaa ggaggtggat gagtgttcct ggccagatca 1981 cggcgggtgc gagcatcgct gtgtgaacac gctgggcagc tacaagtgtg cctgtgaccc 2041 tggctacgag ctggccgccg ataagaagat gtgtgaagtg gcctgtggcg gtttcattac 2101 caagctgaat ggaaccatca ccagccctgg gtggccgaag gagtatccca caaacaaaaa 2161 ctgtgtctgg caggtggtgg cccccgctca gtaccggatc tcccttcagt ttgaagtgtt 2221 tgaactggaa ggcaatgacg tctgtaagta cgactttgta gaggtgcgca gcggcctgtc 2281 ccccgacgcc aagctgcacg gcaggttctg cggctctgag acgccggagg tcatcacctc 2341 gcagagcaac aacatgcgcg tggagttcaa gtccgacaac accgtctcca agcgcggctt 2401 cagggcccac ttcttctcag ataaggacga gtgtgccaag gacaacggcg ggtgtcagca 2461 tgagtgcgtc aacaccttcg ggagctacct gtgcaggtgc agaaacggct actggctcca 2521 cgagaatggg catgactgca aagaggctgg ctgtgcacac aagatcagca gtgtggaggg 2581 gaccctggcg agccccaact ggcctgacaa ataccccagc cggagggagt gtacctggaa 2641 catctcttcg actgcaggcc acagagtgaa actcaccttt aatgagtttg agatcgagca 2701 gcaccaggaa tgtgcctatg accacctgga aatgtatgac gggccggaca gcctggcccc 2761 cattctgggc cgtttctgcg gcagcaagaa accagacccc acggtggctt ccggcagcag 2821 tatgtttctc aggttttatt cggatgcctc agtgcagagg aaaggcttcc aggcagtgca 2881 cagcacagag tgcgggggca ggctgaaggc tgaagtgcag accaaagagc tctattccca 2941 cgcccagttt ggggacaaca actacccgag cgaggcccgc tgtgactggg tgatcgtggc 3001 agaggacggc tacggcgtgg agctgacatt ccggaccttt gaggttgagg aggaggccga 3061 ctgcggctac gactacatgg aagcctacga cggctacgac agctcagcgc ccaggctcgg 3121 ccgcttctgt ggctctgggc cattagaaga aatctactct gcaggtgatt ccctgatgat 3181 tcgattccgc acagatgaca ccatcaacaa gaaaggcttt catgcccgat acaccagcac 3241 caagttccag gatgccctgc acatgaagaa atagtgctga tgttcttgaa agacagaaac 3301 tgagaatttt ttttgttttg ttttgttttt aacaacaata gcaccttgaa aatctgccct 3361 aaaacagtgt acagtatttt tctcaaacaa aaactcagaa tccagcctta gaggtatata 3421 tttgaatgaa agtcttgtaa gtttggccaa caaggtggag agaaaaatgt tcttttgctt 3481 ctgtctgcaa tgttatcatt catgaactgt taaagtgtta aagattagga ttgaagtcac 3541 tgaccattcc ggctatgctt cttcatacca ttctccttgt cccttgctcc tatgtggcaa 3601 aaggtcagcc ttggggttgg ccgttcctct aatctggact tgcttgcaaa ggtgccaggc 3661 tgtcttctgt ccatgttggg cataagggat gaaaacttgg ccgagactaa tgtgtggccc 3721 acagctttgg ctggaatcat tttctttctc tctgccaggg acatgtcaac caagaaacct 3781 gaaaatatgg atggatgtca ggactaaaaa aaggcatcac agtgagcagt gagcacagag 3841 ggagtttcga gtataagaat cattgtcatg aagttaggag accacaaagc catttctcag 3901 agtcattcac tctccttgtc cctttggttt ccccccctcc ctaattgcag tgggggctaa 3961 ggcatccatt atgaatacag cagaacattt gctggcgaga gtcctgtctg ctgagaagac 4021 aatattgtgg ctcgtcctga tatttttttc attcattgac tttgagaaga ctccacctgt 4081 gcttggaatt ccatgggctt caaagaacat ttcttctttt agctttggag gcacttgccg 4141 tggcacacct ggactccttg acatccaatt caaactgcat ttgcaaaatg tgcaaagacc 4201 tcttatgagg gaccaattca ggtcccttat ggggtgaaca ctgttgaaga ctggttaatt 4261 ataagttatg taagaatcat cgccttgtgg aacaagtcaa tcagtgacta gcttcctgta 4321 gccaatcagg ttaaagagtg cgttggtaac tttgctctga ttaactagta ttcaatcacc 4381 aacttgcaaa cagaattcat aacacttggc acttgttcta gagaagtgta gaggatgatg 4441 tttacataat tttagcacct caaggtataa tttaaacagt gaggtagttt tgaatggcat 4501 ttcattaagg catctatggg cattatgagc taaaagctgt ggtatgttag ctttaaaaga 4561 gtatttatgt tggaataatt tttaaataat gtttacataa ctgtaagtcc tgtttggttg 4621 ttgttggacg cagggcggca catgagtgtt tttggttaga gccaagatag ctcccatgca 4681 ccggaattcc tttgggatga atcagcatca ttttaaacaa agtatatgta aaaggtgaaa 4741 ggttatattt tttacagatc agaatgtggc accagaggac tgtgtctcat taaagtgatt 4801 gctgggagca aaaactagaa tgatacaaag aaaggtcaga gaaatgcatg ggaatatttt 4861 ttccttaaaa cagaaaaaaa ttaaagtatt attaataata tatgtctgta tatatgtatg 4921 tatgtaaaag atcagctgtc aaagccttaa tcaatgcagt gtggaaaatg ccaacccctg 4981 gtcctcgctt tactgtgggc cctgcaggac tggctctcca tttcctgcct ctcctttcac 5041 caagctctgt tttggccttt ctcggccctg gactgaggct cagcctacac gctcatattg 5101 tgcatatggc agaccctgcc cagcgtgcgc tttgatacag caaatggagc agctgacctc 5161 atggctccaa tcccacctgc ctgttagggt agattccatt tatctgattt ttgtattttc 5221 tgaggtttta tttggtctca tcttgtctat gagagttgaa actggaactg ggaaacctaa 5281 gatgggtgtt atggttcttt ctccaaggaa ataaaaattc tgcagtttta acctttagaa 5341 gtctaagcaa gattaacaaa tttcatagaa aagtgggagg gagtcagaaa cagagttggt 5401 gctgctcagc aggacggtga aacaatgata cttcttttta tctctttagt atgaacattt 5461 tcaaaaacac acagcttcaa caattgtcac catatggcca atttgcaaca atgggactct 5521 tatgaaaaac ctttatttag gccttctgtg tgacgtatcc acagaaaaga gaagctctga 5581 ttcagctggg gctagctggg ccgctcctct ggaagcccac acttgtgggg acttaggcat 5641 gacacaggtt cttgcaaaga aactagaggc tggcttcact agagagagtc cattcagcag 5701 aaagtcccag gcctctgcct tggtgcttcc aattatcagt gacctgcctg caagcatccc 5761 cagaagcaaa cagcagaggt agaagatatc actgcagcct gctttgtgct ttaattgggt 5821 accaagcttt ggggatgaca gtgagttgca agaatagttt tagttcagag aattgtctta 5881 ggacaacagg ctaatgaagg atttggggtc tgggttttta gcctggctcc gttctggtgt 5941 aacccggtct agcaaaagct aagcctggat tgcagggcag gaaaaaatct ggaattaact 6001 ttagccagtg gaatttcttc aaacagagaa agagaggctg ttcattgatc cactattccc 6061 tctattttcc tctaaggtaa atatttagag gtatttacct gtaaggtgaa gtttcctttt 6121 tatttctact ttacaatttc tctctaaagc aagcttgtcc aacccttggc ccaggacggc 6181 tttgaatatg gcccgacaca aattcgtaaa ctttttaaaa aacattgtaa gattctttct 6241 gtgatttttt tttttctcgt cagctatcgt tagtgtattt tatgtgtggc ccaagataat 6301 tcttcttcca atgtggccca gggaagccaa aagatgggac acccctgctg taaagtttca 6361 tatcactcat gaattgctca gctgatttaa ataatttgta aaatcctgct aactagcaaa 6421 ttcacattga gattttctat tgattgggtc cctttgatag ctttcagatt ggtattgtta 6481 gcgttccatt tgtgaacaaa tgttcccttg gctttagcag atgtttttaa agtttctttt 6541 gtagaccgaa cttctgaaga gtaataccaa atgcctaaaa ttttattttt aaaaaggaaa 6601 attgtttaaa gtattatatg taaacatatg ggtatttttt attttgtgta attttacatt 6661 tcatgaaatg atgtcagttt caaagagaaa gtggagagga cctaacatat gtctctacct 6721 agaacggatg gtttcattaa agaatgtgga ttt // LOCUS TLL1 6654 bp mRNA linear PRI 05-NOV-2002 DEFINITION Homo sapiens tolloid-like 1 (TLL1), mRNA. ACCESSION NM_012464 VERSION NM_012464.3 GI:22547220 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 6654) AUTHORS Scott,I.C., Clark,T.G., Takahara,K., Hoffman,G.G., Eddy,R.L., Haley,L.L., Shows,T.B. and Greenspan,D.S. TITLE Assignment of TLL1 and TLL2, which encode human BMP-1/Tolloid-related metalloproteases, to chromosomes 4q32-->q33 and 10q23-->q24 and assignment of murine Tll2 to chromosome 19 JOURNAL Cytogenet. Cell Genet. 86 (1), 64-65 (1999) MEDLINE 99447609 PUBMED 10516436 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF282732.1, AK021908.1 and U91963.1. On Aug 29, 2002 this sequence version replaced gi:21361400. Summary: This gene encodes an astacin-like zinc-dependent metalloprotease and is a subfamily member of the metzincin family. A similar protein in mice is required during heart development and specifically processes procollagen C-propeptides and chordin at similar cleavage sites. FEATURES Location/Qualifiers source 1..6654 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q32-q33" gene 1..6654 /gene="TLL1" /note="synonym: TLL" /db_xref="LocusID:7092" /db_xref="MIM:606742" CDS 648..3689 /gene="TLL1" /codon_start=1 /product="tolloid-like 1" /protein_id="NP_036596.3" /db_xref="GI:22547221" /db_xref="LocusID:7092" /db_xref="MIM:606742" /translation="MGLGTLSPRMLVWLVASGIVFYGELWVCAGLDYDYTFDGNEEDK TETIDYKDPCKAAVFWGDIALDDEDLNIFQIDRTIDLTQNPFGNLGHTTGGLGDHAMS KKRGALYQLIDRIRRIGFGLEQNNTVKGKVPLQFSGQNEKNRVPRAATSRTERIWPGG VIPYVIGGNFTGSQRAMFKQAMRHWEKHTCVTFIERSDEESYIVFTYRPCGCCSYVGR RGNGPQAISIGKNCDKFGIVVHELGHVIGFWHEHTRPDRDNHVTIIRENIQPGQEYNF LKMEPGEVNSLGERYDFDSIMHYARNTFSRGMFLDTILPSRDDNGIRPAIGQRTRLSK GDIAQARKLYRCPACGETLQESNGNLSSPGFPNGYPSYTHCIWRVSVTPGEKIVLNFT TMDLYKSSLCWYDYIEVRDGYWRKSPLLGRFCGDKLPEVLTSTDSRMWIEFRSSSNWV GKGFAAVYEAICGGEIRKNEGQIQSPNYPDDYRPMKECVWKITVSESYHVGLTFQSFE IERHDNCAYDYLEVRDGTSENSPLIGRFCGYDKPEDIRSTSNTLWMKFVSDGTVNKAG FAANFFKEEDECAKPDRGGCEQRCLNTLGSYQCACEPGYELGPDRRSCEAACGGLLTK LNGTITTPGWPKEYPPNKNCVWQVVAPTQYRISVKFEFFELEGNEVCKYDYVEIWSGL SSESKLHGKFCGAEVPEVITSQFNNMRIEFKSDNTVSKKGFKAHFFSDKDECSKDNGG CQHECVNTMGSYMCQCRNGFVLHDNKHDCKEAECEQKIHSPSGLITSPNWPDKYPSRK ECTWEISATPGHRIKLAFSEFEIEQHQECAYDHLEVFDGETEKSPILGRLCGNKIPDP LVATGNKMFVRFVSDASVQRKGFQATHSTECGGRLKAESKPRDLYSHAQFGDNNYPGQ VDCEWLLVSERGSRLELSFQTFEVEEEADCGYDYVELFDGLDSTAVGLGRFCGSGPPE EIYSIGDSVLIHFHTDDTINKKGFHIRYKSIRYPDTTHTKK" misc_feature 1107..1532 /gene="TLL1" /note="ZnMc; Region: Zinc-dependent metalloprotease" /db_xref="CDD:smart00235" misc_feature 1110..1685 /gene="TLL1" /note="Astacin; Region: Astacin (Peptidase family M12A). The members of this family are enzymes that cleave peptides. These proteases require zinc for catalysis. Members of this family contain two conserved disulphide bridges, these are joined 1-4 and 2-3. Members of this family have an amino terminal propeptide which is cleaved to give the active protease domain. All other linked domains are found to the carboxyl terminus of this domain. This family includes: Astacin, a digestive enzyme from Crayfish. Meprin, a multiple domain membrane component that is constructed from a homologous alpha and beta chain. Proteins involved in morphogenesis, and Tolloid from drosophila" /db_xref="CDD:pfam01400" misc_feature 1692..2030 /gene="TLL1" /note="CUB; Region: Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein" /db_xref="CDD:smart00042" misc_feature 1692..2021 /gene="TLL1" /note="CUB; Region: CUB domain" /db_xref="CDD:pfam00431" misc_feature 2031..2363 /gene="TLL1" /note="CUB; Region: Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein" /db_xref="CDD:smart00042" misc_feature 2031..2360 /gene="TLL1" /note="CUB; Region: CUB domain" /db_xref="CDD:pfam00431" misc_feature 2373..2492 /gene="TLL1" /note="EGF_CA; Region: Calcium-binding EGF-like domain" /db_xref="CDD:smart00179" misc_feature 2499..2837 /gene="TLL1" /note="CUB; Region: Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein" /db_xref="CDD:smart00042" misc_feature 2499..2828 /gene="TLL1" /note="CUB; Region: CUB domain" /db_xref="CDD:pfam00431" misc_feature 2835..2957 /gene="TLL1" /note="EGF_CA; Region: Calcium-binding EGF-like domain" /db_xref="CDD:smart00179" misc_feature 2844..2942 /gene="TLL1" /note="EGF; Region: Epidermal growth factor-like domain" /db_xref="CDD:smart00181" misc_feature 2967..3305 /gene="TLL1" /note="CUB; Region: Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein" /db_xref="CDD:smart00042" misc_feature 2967..3296 /gene="TLL1" /note="CUB; Region: CUB domain" /db_xref="CDD:pfam00431" misc_feature 3306..3656 /gene="TLL1" /note="CUB; Region: Domain first found in C1r, C1s, uEGF, and bone morphogenetic protein" /db_xref="CDD:smart00042" misc_feature 3306..3647 /gene="TLL1" /note="CUB; Region: CUB domain" /db_xref="CDD:pfam00431" BASE COUNT 1928 a 1298 c 1493 g 1935 t ORIGIN 1 ctcacacttt tgctctcttg cagtcagttg ctttgctggc ttctgcaggc ttttaaggtc 61 tcgcggcgta gaaatgcctg gcccccaccc ccttcctcgg tctccccttt caattcagat 121 gtgctgatgt gcagaccgga ttcatcttct cggagctgcg gcggcggctt tgggctcagg 181 cggcggcggc tcgcgctcgg ccgcggagtc ctggcagcag cggggacgcg gcgcgggagt 241 ccgagctctg gtggcagctg agcccgcggg gcgccgctcg ccgagccgcg gccgcgggaa 301 gttcggcagc cagaaggacg acctggcagg ctgcgagcgc cagcgccgcc agagccgagt 361 ttgcctgcgc cctccccgcc tccgagtgca gagttcctta cctgccctcc gcccacccgt 421 gggcccctag ccaacttctc cctgcgactg ggggtaacag gcagtgcttg ccctctctac 481 tgtcccggcg gcatccacat gtttccggac acctgagcac cccggtcccg ccgaggagcc 541 tccgggtggg gagaagagca ccggtgcccc tagccccgca catcagcgcg gaccgcggct 601 gcctaacctc tgggtcccgt cccctccttt tcctccgggg gaggaggatg gggttgggaa 661 cgctttcccc gaggatgctc gtgtggctgg tggcctcggg gattgttttc tacggggagc 721 tatgggtctg cgctggcctc gattatgatt acacttttga tgggaacgaa gaggataaaa 781 cagagactat agattacaag gacccgtgta aagccgctgt attttggggc gatattgcct 841 tagatgatga agacttaaat atctttcaaa tagataggac aattgacctt acgcagaacc 901 cctttggaaa ccttggacat accacaggtg gacttggaga ccatgctatg tcaaagaagc 961 gaggggccct ctaccaactt atagacagga taagaagaat tggctttggc ttggagcaaa 1021 acaacacagt taagggaaaa gtacctctac aattctcagg gcaaaatgag aaaaatcgag 1081 ttcccagagc cgctacatca agaacggaaa gaatatggcc tggaggcgtt attccttatg 1141 ttataggagg aaacttcact ggcagccaga gagccatgtt caagcaggcc atgaggcact 1201 gggaaaagca cacatgtgtg actttcatag aaagaagtga tgaagagagt tacattgtat 1261 tcacctatag gccttgtgga tgctgctcct atgtaggtcg gcgaggaaat ggacctcagg 1321 caatctctat cggcaagaac tgtgataaat ttgggattgt tgttcatgaa ttgggtcatg 1381 tgataggctt ttggcatgaa cacacaagac cagatcgaga taaccacgta actatcataa 1441 gagaaaacat ccagccaggt caagagtaca attttctgaa gatggagcct ggagaagtaa 1501 actcacttgg agaaagatat gatttcgaca gtatcatgca ctatgccagg aacaccttct 1561 caagggggat gtttctggat accattctcc cctcccgtga tgataatggc atacgtcctg 1621 caattggtca gcgaacccgt ctaagcaaag gagatatcgc acaggcaaga aagctgtata 1681 gatgtccagc atgtggagaa actctacaag aatccaatgg caacctttcc tctccaggat 1741 ttcccaatgg ctacccttct tacacacact gcatctggag agtttctgtg accccagggg 1801 agaagattgt tttaaatttt acaacgatgg atctatacaa gagtagtttg tgctggtatg 1861 actatattga agtaagagac gggtactgga gaaaatcacc tctccttggt agattctgtg 1921 gggacaaatt gcctgaagtt cttacttcta cagacagcag aatgtggatt gagtttcgta 1981 gcagcagtaa ttgggtagga aaaggctttg cagctgtcta tgaagcgatc tgtggaggtg 2041 agatacgtaa aaatgaagga cagattcagt ctcccaatta tcctgatgac tatcgcccga 2101 tgaaagaatg tgtgtggaaa ataacagtgt ctgagagcta ccacgtcggg ctgacctttc 2161 agtcctttga gattgaaaga catgacaatt gtgcttatga ctacctggaa gttagagatg 2221 gaaccagtga aaatagccct ttgatagggc gtttctgtgg ttatgacaaa cctgaagaca 2281 taagatctac ctccaatact ttgtggatga agtttgtttc tgacggaact gtgaacaaag 2341 cagggtttgc tgctaacttt tttaaagagg aagatgagtg tgccaaacct gaccgtggag 2401 gctgtgagca gcgatgtctg aacactctgg gcagttacca gtgtgcctgt gagcctggct 2461 atgagctggg cccagacaga aggagctgtg aagctgcttg tggtggactt cttaccaaac 2521 ttaacggcac cataaccacc cctggctggc ccaaggagta ccctcctaat aagaactgtg 2581 tgtggcaagt ggttgcacca acccagtaca gaatttctgt gaagtttgag ttttttgaat 2641 tggaaggcaa tgaagtttgc aaatatgatt atgtggagat ctggagtggt ctttcctctg 2701 agtctaaact gcatggcaaa ttctgtggcg ctgaagtgcc tgaagtgatc acatcccagt 2761 tcaacaatat gagaattgaa ttcaaatctg acaatactgt atccaagaag ggcttcaaag 2821 cacatttttt ctcagacaaa gatgaatgct ctaaggataa tggtggatgt cagcacgaat 2881 gtgtcaacac gatggggagc tacatgtgtc aatgccgtaa tggatttgtg ctacatgaca 2941 ataaacatga ttgcaaggaa gctgagtgtg aacagaagat ccacagtcca agtggcctca 3001 tcaccagtcc caactggcca gacaagtacc caagcaggaa agaatgcact tgggaaatca 3061 gcgccactcc tggccaccga atcaaattag cctttagtga atttgagatt gagcagcatc 3121 aagaatgtgc ttatgaccac ttagaagtat ttgatggaga aacagaaaag tcaccgattc 3181 ttggacgact gtgtggcaac aagataccag atccccttgt ggctactgga aataaaatgt 3241 ttgttcggtt tgtttctgat gcatctgttc aaagaaaagg ctttcaagct acacattcta 3301 cagagtgtgg cggacgattg aaagcagaat caaaaccaag agatctgtac tcacatgctc 3361 agtttggtga taacaactac ccaggacagg ttgactgtga atggctatta gtatcagaac 3421 ggggctctcg acttgaatta tccttccaga catttgaagt ggaggaagaa gcagactgtg 3481 gctatgacta tgtggagctc tttgatggtc ttgattcaac agctgtgggg cttggtcgat 3541 tctgtggatc cgggccacca gaagagattt attcaattgg agattcagtt ttaattcatt 3601 tccacactga tgacacaatc aacaagaagg gatttcatat aagatacaaa agcataagat 3661 atccagatac cacacatacc aaaaaataac accaaaacct ctgtcagaac acaaaggaat 3721 gtgcataatg gagagaagac atattttttt taaaactgaa gatattggca caaatgtttt 3781 atacaaagag tttgaacaaa aaatccctgt aagaccagaa ttatctttgt actaaaagag 3841 aagtttccag caaaaccctc atcagcatta caaggatatt tgaactccat gcttgatggt 3901 attaataaag ctggtgaaag ggcatcatat acttcaagga agactctaca agcttttgtt 3961 cacagcttga aatagatgcc tcacaattca gacagtttaa ttcaggaact gtgaccctgc 4021 agtgttcttt ttgacaattt gtcaagattt agggacataa aatgatcttg caggtcgtaa 4081 actggaaaac agtattttgg ttgtcttagg ataattgctg actttgtatc ttggatacag 4141 tgtaaaccag atccatataa ggtgaatgtg aaatgggagt cttctgaggg tgatttgtac 4201 tttccatgtg tatgtgtgtg tctggtgttt ggaaactggg atatttcagc ttcattattt 4261 ccacttgcag gccagcttaa cctctgaaac acaaatgatc ttgagaccac tttagtgtac 4321 ttacatttag atgagtttga aatctcaatg gtgtctaatt attgcagtta aattctagac 4381 atcagttctt taagtctcag aaaacgccca gtgaattggt aaacttagtt cttttttttg 4441 gaagtgctgc cttttcacac caaatccaag aagcctgtga tgtcttatga accttatgag 4501 aaaactccga agaggtgtga gcaggattct tctgaatgac tgtctggatg gttcattact 4561 caagttactg ctgctgctat tgtctttcct ttgttgtcga tctgttattg ttgtattatt 4621 attgttgatg ttgtcatggt taatctattt tttaaaattg aaatgaagca gaagtaggcc 4681 ttgtgagaac tgaaaggtct ctttcatttt tctcttcctg ggattcattt tttcaaaaca 4741 caatgctgga aaaaaaagat ttgtttctga aagacttctt atggtgctat tccataaact 4801 ttttttcaaa caagtttttg acctttgagc caacccaccc gtagactacg aatgtctccc 4861 tatggctggt agcatttgaa gactaaagac ttgtcaaata tatcaagagt atatcattgc 4921 aagggcagca cttgtcctgt ggaacaacta cttataatgc cttagaattc ctgcacatga 4981 tcaaacagat cctcctaaaa cacacctttt gaaatgttga acataatagt gtatgttaat 5041 taacagctct atgaagaaaa tccatttcca tgactgaagc attggatata aatatggtgt 5101 cctgcttttt ttgtagaaaa tgtaatttga ggatgaattt tctgctttaa aggcatgtgt 5161 gtttttaaaa ttaatgaatg tagatgtgtg attgtctgag tgagtgaaac tacaagaggt 5221 aaaaaataat gggtggttga aaagttaaaa tgtatgtgcc aagttctact agaattccat 5281 ttgaaatagc accttcctta ggtttcatgg acaaataatg ggaacttcta attttgatca 5341 atcccattaa aaaaaggctc tttcctttag agaaactcta ttttgatgtc aatatagatt 5401 actgtatgaa gtagctttgt gtctgttacc tgtccatgag catacaacat tgaatacaat 5461 tgggtgtatt ctttcagttt tacacaatta aagtatacac acagatgtag cttatctgtt 5521 tttttcttaa attgttgccc tgaaaaaatt tcttgcatat gaattgtaaa atgtaaatac 5581 atttttataa ccaatgtttt gatcttattg aatgttactt tgaaaatgta taactattgc 5641 ctgcaatgta gatgagcctt ttagtagagc tgatttattc cagtaacttc ttccatattt 5701 tctcactaat ctcccgttag ccaaaatatg ccagaaatgg gaaagagagg agaaaaagtc 5761 attaacatta acacctatac tgttctatac tactcctacc cgtgtgctag gaatgtgcac 5821 tagctctttt taaattccat gctacacttt gaggactgtc atcatgttct cgttttgtag 5881 ttcagaaagt gaggctcaaa gaatttatgt aaccttccca gagtcacagt gtaaagttag 5941 atgttgaaac ccagtttatc ttatacaaat gagcctctgc ttgttctaca aaggtagtag 6001 aatcaatctc gacctatata aatagtagat tttttatggt gaaactttcc cacataaagt 6061 aaattttagg ggtgaattag agtaaaactt acaggataag cattttgctc tttttaagaa 6121 cagcatgaaa tttagaatac caatgatagc tatctttaag aatcagaatt agtactagaa 6181 atttaaaaaa ccctatagtt tggagttagt atgagccttt tgtgaaaata aatatattaa 6241 attattttgc ctgatgtggt aggggaaatg tattgctcta tattaagaaa tattctggat 6301 attctgattg acatcttatt aggccatagt gagctatgct ctgcacaact gagaaattag 6361 gtatttagaa ggcatataga gatgttgtca taactaggtc ttcaacgtga aaattaattt 6421 ttattgtatc atgtcaagta tcagtttacc acatattatt tttatattaa ttcaacattt 6481 gccttaagtg tgttgttaaa tgaaagtaca gacagcttca ttgttgtatt gttaataatt 6541 gttacttact gctccaggca ttttattaaa ttaatttttt aaattatttt ccaccctaca 6601 tcagtatatt ggttgtgctt tatatttgcc aaagtcctaa ctgactatac atag // LOCUS BMP4 1999 bp mRNA linear PRI 05-NOV-2002 DEFINITION Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 1, mRNA. ACCESSION NM_001202 VERSION NM_001202.2 GI:19528648 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1999) AUTHORS Wozney,J.M., Rosen,V., Celeste,A.J., Mitsock,L.M., Whitters,M.J., Kriz,R.W., Hewick,R.M. and Wang,E.A. TITLE Novel regulators of bone formation: molecular clones and activities JOURNAL Science 242 (4885), 1528-1534 (1988) MEDLINE 89072730 PUBMED 3201241 REFERENCE 2 (bases 1 to 1999) AUTHORS van den Wijngaard,A., Weghuis,D.O., Boersma,C.J., van Zoelen,E.J., Geurts van Kessel,A. and Olijve,W. TITLE Fine mapping of the human bone morphogenetic protein-4 gene (BMP4) to chromosome 14q22-q23 by in situ hybridization JOURNAL Genomics 27 (3), 559-560 (1995) MEDLINE 96047350 PUBMED 7558046 REFERENCE 3 (bases 1 to 1999) AUTHORS Oida,S., Iimura,T., Maruoka,Y., Takeda,K. and Sasaki,S. TITLE Cloning and sequence of bone morphogenetic protein 4 (BMP-4) from a human placental cDNA library JOURNAL DNA Seq. 5 (5), 273-275 (1995) MEDLINE 96063017 PUBMED 7579580 REFERENCE 4 (bases 1 to 1999) AUTHORS van den Wijngaard,A., van Kraay,M., van Zoelen,E.J., Olijve,W. and Boersma,C.J. TITLE Genomic organization of the human bone morphogenetic protein-4 gene: molecular basis for multiple transcripts JOURNAL Biochem. Biophys. Res. Commun. 219 (3), 789-794 (1996) MEDLINE 96216730 PUBMED 8645259 REFERENCE 5 (bases 1 to 1999) AUTHORS Shore,E.M., Xu,M., Shah,P.B., Janoff,H.B., Hahn,G.V., Deardorff,M.A., Sovinsky,L., Spinner,N.B., Zasloff,M.A., Wozney,J.M. and Kaplan,F.S. TITLE The human bone morphogenetic protein 4 (BMP-4) gene: molecular structure and transcriptional regulation JOURNAL Calcif. Tissue Int. 63 (3), 221-229 (1998) MEDLINE 98368971 PUBMED 9701626 REFERENCE 6 (bases 1 to 1999) AUTHORS Tucker,A.S., Matthews,K.L. and Sharpe,P.T. TITLE Transformation of tooth type induced by inhibition of BMP signaling JOURNAL Science 282 (5391), 1136-1138 (1998) MEDLINE 99021745 PUBMED 9804553 REFERENCE 7 (bases 1 to 1999) AUTHORS Van den Wijngaard,A., Pijpers,M.A., Joosten,P.H., Roelofs,J.M., Van zoelen,E.J. and Olijve,W. TITLE Functional characterization of two promoters in the human bone morphogenetic protein-4 gene JOURNAL J. Bone Miner. Res. 14 (8), 1432-1441 (1999) MEDLINE 99388225 PUBMED 10457277 REFERENCE 8 (bases 1 to 1999) AUTHORS van den Wijngaard,A., Mulder,W.R., Dijkema,R., Boersma,C.J., Mosselman,S., van Zoelen,E.J. and Olijve,W. TITLE Antiestrogens specifically up-regulate bone morphogenetic protein-4 promoter activity in human osteoblastic cells JOURNAL Mol. Endocrinol. 14 (5), 623-633 (2000) MEDLINE 20267224 PUBMED 10809227 REFERENCE 9 (bases 1 to 1999) AUTHORS Kawai,S. and Sugiura,T. TITLE Characterization of human bone morphogenetic protein (BMP)-4 and -7 gene promoters: activation of BMP promoters by Gli, a sonic hedgehog mediator JOURNAL Bone 29 (1), 54-61 (2001) MEDLINE 21365305 PUBMED 11472891 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from U43842.1. On Mar 18, 2002 this sequence version replaced gi:4502422. Summary: The protein encoded by this gene is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. This particular family member plays an important role in the onset of endochondral bone formation in humans, and a reduction in expression has been associated with a variety of bone diseases, including the heritable disorder Fibrodysplasia Ossificans Progressiva. Alternative splicing in the 5' untranslated region of this gene has been described and three variants are described, all encoding an identical protein. Transcript Variant: This variant (1) utilizes exons 1, 3, 4 and 5, resulting in the longest transcript. Variants 1, 2 and 3 encode the same protein. FEATURES Location/Qualifiers source 1..1999 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q22-q23" gene 1..1999 /gene="BMP4" /note="synonyms: ZYME, BMP2B, BMP2B1" /db_xref="LocusID:652" /db_xref="MIM:112262" misc_feature 1..345 /gene="BMP4" /note="Region: exon 1" misc_feature 43 /gene="BMP4" /note="alternate transcription initiation site" misc_feature 55 /gene="BMP4" /note="alternate transcription initiation site" misc_feature 106 /gene="BMP4" /note="alternate transcription initiation site" misc_feature 110 /gene="BMP4" /note="alternate transcription initiation site" misc_feature 224 /gene="BMP4" /note="alternate transcription initiation site" misc_feature 334 /gene="BMP4" /note="alternate transcription initiation site" CDS 478..1704 /gene="BMP4" /note="bone morphogenetic protein 2B" /codon_start=1 /product="bone morphogenetic protein 4 preproprotein" /protein_id="NP_001193.1" /db_xref="GI:4502423" /db_xref="LocusID:652" /db_xref="MIM:112262" /translation="MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGG RRSGQSHELLRDFEATLLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEQIHST GLEYPERPASRANTVRSFHHEEHLENIPGTSENSAFRFLFNLSSIPENEAISSAELRL FREQVDQGPDWERGFHRINIYEVMKPPAEVVPGHLITRLLDTRLVHHNVTRWETFDVS PAVLRWTREKQPNYGLAIEVTHLHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFG HDGRGHALTRRRRAKRSPKHHSQRARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQA FYCHGDCPFPLADHLNSTNHAIVQTLVNSVNSSIPKACCVPTELSAISMLYLDEYDKV VLKNYQEMVVEGCGCR" misc_feature 598..1305 /gene="BMP4" /note="TGFb_propeptide; Region: TGF-beta propeptide. This propeptide is known as latency associated peptide (LAP) in TGF-beta. LAP is a homodimer which is disulfide linked to TGF-beta binding protein" /db_xref="CDD:pfam00688" misc_feature 1390..1701 /gene="BMP4" /note="TGF-beta; Region: Transforming growth factor beta like domain" /db_xref="CDD:pfam00019" misc_feature 1399..1701 /gene="BMP4" /note="TGFB; Region: Transforming growth factor-beta (TGF-beta) family" /db_xref="CDD:smart00204" misc_feature 535..1701 /gene="BMP4" /note="bone morphogenetic protein 4 proprotein" variation 1854 /gene="BMP4" /allele="A" /allele="T" /db_xref="dbSNP:2855526" polyA_signal 1973..1978 /gene="BMP4" polyA_site 1999 /gene="BMP4" BASE COUNT 505 a 536 c 549 g 409 t ORIGIN 1 gagggagggg ccgccgggga agaggaggag gaaggaaaga aagaaagcga gggagggaaa 61 gaggaggaag gaagatgcga gaaggcagag gaggagggag ggagggaagg agcgcggagc 121 ccggcccgga agctaggtga gtgtggcatc cgagctgagg gacgcgagcc tgagacgccg 181 ctgctgctcc ggctgagtat ctagcttgtc tccccgatgg gattcccgtc caagctatct 241 cgagcctgca gcgccacagt ccccggccct cgcccaggtt cactgcaacc gttcagaggt 301 ccccaggagc tgctgctggc gagcccgcta ctgcagggac ctatggagcc attccgtagt 361 gccatcccga gcaacgcact gctgcagctt ccctgagcct ttccagcaag tttgttcaag 421 attggctgtc aagaatcatg gactgttatt atatgccttg ttttctgtca agacaccatg 481 attcctggta accgaatgct gatggtcgtt ttattatgcc aagtcctgct aggaggcgcg 541 agccatgcta gtttgatacc tgagacgggg aagaaaaaag tcgccgagat tcagggccac 601 gcgggaggac gccgctcagg gcagagccat gagctcctgc gggacttcga ggcgacactt 661 ctgcagatgt ttgggctgcg ccgccgcccg cagcctagca agagtgccgt cattccggac 721 tacatgcggg atctttaccg gcttcagtct ggggaggagg aggaagagca gatccacagc 781 actggtcttg agtatcctga gcgcccggcc agccgggcca acaccgtgag gagcttccac 841 cacgaagaac atctggagaa catcccaggg accagtgaaa actctgcttt tcgtttcctc 901 tttaacctca gcagcatccc tgagaacgag gcgatctcct ctgcagagct tcggctcttc 961 cgggagcagg tggaccaggg ccctgattgg gaaaggggct tccaccgtat aaacatttat 1021 gaggttatga agcccccagc agaagtggtg cctgggcacc tcatcacacg actactggac 1081 acgagactgg tccaccacaa tgtgacacgg tgggaaactt ttgatgtgag ccctgcggtc 1141 cttcgctgga cccgggagaa gcagccaaac tatgggctag ccattgaggt gactcacctc 1201 catcagactc ggacccacca gggccagcat gtcaggatta gccgatcgtt acctcaaggg 1261 agtgggaatt gggcccagct ccggcccctc ctggtcacct ttggccatga tggccggggc 1321 catgccttga cccgacgccg gagggccaag cgtagcccta agcatcactc acagcgggcc 1381 aggaagaaga ataagaactg ccggcgccac tcgctctatg tggacttcag cgatgtgggc 1441 tggaatgact ggattgtggc cccaccaggc taccaggcct tctactgcca tggggactgc 1501 ccctttccac tggctgacca cctcaactca accaaccatg ccattgtgca gaccctggtc 1561 aattctgtca attccagtat ccccaaagcc tgttgtgtgc ccactgaact gagtgccatc 1621 tccatgctgt acctggatga gtatgataag gtggtactga aaaattatca ggagatggta 1681 gtagagggat gtgggtgccg ctgagatcag gcagtccttg aggatagaca gatatacaca 1741 ccacacacac acaccacata caccacacac acacgttccc atccactcac ccacacacta 1801 cacagactgc ttccttatag ctggactttt atttaaaaaa aaaaaaaaaa aaatggaaaa 1861 aatccctaaa cattcacctt gaccttattt atgactttac gtgcaaatgt tttgaccata 1921 ttgatcatat attttgacaa aatatattta taactacgta ttaaaagaaa aaaataaaat 1981 gagtcattat tttaaaggt // LOCUS madh5 2352 bp mRNA linear VRT 05-NOV-2002 DEFINITION Danio rerio MAD homolog 5 (Drosophila) (madh5), mRNA. ACCESSION NM_131368 VERSION NM_131368.1 GI:18858988 KEYWORDS . SOURCE Danio rerio (zebrafish) ORGANISM Danio rerio Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Cyprinidae; Danio. REFERENCE 1 (bases 1 to 2352) AUTHORS Nguyen,V.H., Schmid,B., Trout,J., Connors,S.A., Ekker,M. and Mullins,M.C. TITLE Ventral and lateral regions of the zebrafish gastrula, including the neural crest progenitors, are established by a bmp2b/swirl pathway of genes JOURNAL Dev. Biol. 199 (1), 93-110 (1998) MEDLINE 98340884 PUBMED 9676195 REFERENCE 2 (bases 1 to 2352) AUTHORS Gates,M.A., Kim,L., Egan,E.S., Cardozo,T., Sirotkin,H.I., Dougan,S.T., Lashkari,D., Abagyan,R., Schier,A.F. and Talbot,W.S. TITLE A genetic linkage map for zebrafish: comparative analysis and localization of genes and expressed sequences JOURNAL Genome Res. 9 (4), 334-347 (1999) MEDLINE 99225674 PUBMED 10207156 REFERENCE 3 (bases 1 to 2352) AUTHORS Hild,M., Dick,A., Rauch,G.J., Meier,A., Bouwmeester,T., Haffter,P. and Hammerschmidt,M. TITLE The smad5 mutation somitabun blocks Bmp2b signaling during early dorsoventral patterning of the zebrafish embryo JOURNAL Development 126 (10), 2149-2159 (1999) MEDLINE 99225462 PUBMED 10207140 REFERENCE 4 (bases 1 to 2352) AUTHORS Dick,A., Meier,A. and Hammerschmidt,M. TITLE Smad1 and Smad5 have distinct roles during dorsoventral patterning of the zebrafish embryo JOURNAL Dev. Dyn. 216 (3), 285-298 (1999) MEDLINE 20058452 PUBMED 10590480 REFERENCE 5 (bases 1 to 2352) AUTHORS Mowbray,C., Hammerschmidt,M. and Whitfield,T.T. TITLE Expression of BMP signalling pathway members in the developing zebrafish inner ear and lateral line JOURNAL Mech. Dev. 108 (1-2), 179-184 (2001) MEDLINE 21463385 PUBMED 11578872 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AF127920.1. FEATURES Location/Qualifiers source 1..2352 /organism="Danio rerio" /db_xref="taxon:7955" /chromosome="LG 14" /map="LG 14" gene 1..2352 /gene="madh5" /note="synonym: mad" /db_xref="LocusID:30641" CDS 366..1760 /gene="madh5" /note="SMA- and MAD-related protein 5; MAD (mothers against decapentaplegic, Drosophila) homolog 5" /codon_start=1 /product="MAD homolog 5" /protein_id="NP_571443.1" /db_xref="GI:18858989" /db_xref="LocusID:30641" /translation="MTSMSSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDALVKKLKK KKGAMEDLEKALSSPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHH ELKPLEVCEYPFGSKQKEVCINPYHYKRVESPVLPPVLVPRHSEFNPQHSLLVQFRNL SHNEPHMPLNATFPESFQQHSGGSSFPISPNSPYPPSPASSGTYPNSPASSGPSSPFQ LPADTPPPAYMPPDEQMGQDGSQSMETGSSLAPQNMPRGDVQPVEYQEPSHWCSIVYY ELNNRVGEAYHASSTSVLVDGFTDPSNNKNRFCLGLLSNVNRNSTIENTRRHIGKGVH LYYVGGEVYAECLSDTSIFVQSRNCNYHHGFHPTTVCKIPSGCSLKIFNNQEFAQLLA QSVNHGFEAVYELTKMCTIRMSFVKGWGAEYHRQDVTSTPCWIEVHLHGPLQWLDKVL TQMGSPLNPISSVS" misc_feature 408..764 /gene="madh5" /note="MH1; Region: MH1 domain. This is the MH1 (MAD homology 1) domain found at the amino terminus of MAD related proteins. This domain can bind to DNA. This domain is separated from the MH2 domain by a non-conserved linker region. The crystal structure of the MH1 domain shows that a highly conserved 11 residue beta hairpin is used to bind DNA in the major groove. Not all examples of MH1 can bind to DNA however. Smad2 cannot bind DNA and has a large insertion within the hairpin that presumably abolishes DNA binding" /db_xref="CDD:pfam03165" misc_feature 441..764 /gene="madh5" /note="DWA; Region: Domain A in dwarfin family proteins" /db_xref="CDD:smart00523" misc_feature 1155..1691 /gene="madh5" /note="MH2; Region: MH2 domain. This is the MH2 (MAD homology 2) domain found at the carboxy terminus of MAD related proteins. This domain is separated from the MH1 domain by a non-conserved linker region. The MH2 domain mediates interaction with a wide variety of proteins" /db_xref="CDD:pfam03166" misc_feature 1167..1685 /gene="madh5" /note="DWB; Region: Domain B in dwarfin family proteins" /db_xref="CDD:smart00524" variation 566 /gene="madh5" /allele="C" /allele="T" /db_xref="dbSNP:3728632" variation 572 /gene="madh5" /allele="C" /allele="T" /db_xref="dbSNP:3728633" variation 573 /gene="madh5" /allele="A" /allele="C" /db_xref="dbSNP:3728634" BASE COUNT 581 a 648 c 510 g 613 t ORIGIN 1 tgcaggtgga ctttgagtcc ggtgtcagtc tctgaccaca accaatatct ggcatggatt 61 agtttataaa atctcctaac tgcctggttg tgtgtttcca gccttgattc ctcaattgcc 121 ctttacgcta attctcgcag tagttgtgac ccagttcctc ccccggcttc actgcaggcc 181 ttcctgagcc ccaagtacca gcagctgcgt cctgctttcc acttcctgtc cttggtcctg 241 caaggctaag cctgtccact tcccccctcc ccccctgaca tacacaaaca cacacataat 301 catcttcctg gcacactgct ggccgaggac gctccagatt cggcttcctg gtgcagccca 361 gcactatgac ctccatgtct agtctgtttt ccttcaccag cccggcagtg aagcggttgc 421 tgggctggaa gcagggcgat gaggaggaaa aatgggcgga aaaagctgtg gatgccctgg 481 tgaagaagct gaaaaagaaa aagggtgcca tggaagactt ggaaaaggcc cttagtagtc 541 ctgggcagcc cagcaaatgt gttaccattc cccggtcgct ggacgggcgg ctgcaggtgt 601 cccacaggaa gggcctccca cacgtcatct actgccgcgt gtggcgctgg cctgacctgc 661 agtcccacca tgagctcaaa ccgctcgagg tttgcgagta tccattcggc tccaaacaga 721 aagaagtgtg catcaaccca tatcactaca aacgagttga aagtccagta cttcctccgg 781 ttctggtgcc gcgacacagt gagttcaacc ctcaacacag tctcctggtg cagtttcgca 841 acttgagtca caacgagcct catatgcctc tcaacgccac cttcccagag tccttccagc 901 agcacagcgg aggaagctcc ttccccatct ctccaaactc accctaccct ccatctcccg 961 ccagcagtgg cacatacccc aactctcctg caagctctgg gccatccagc cccttccagc 1021 taccagctga tactcctcct cctgcctaca tgcctccaga tgaacagatg gggcaagacg 1081 gttctcagtc catggagact ggtagcagcc tggctcctca gaacatgccc agaggggatg 1141 tgcagccagt ggagtatcag gagcccagtc actggtgctc tattgtgtac tatgagctga 1201 ataatcgtgt gggagaggct taccacgctt cctccaccag cgtactggtt gatggattca 1261 ccgatccatc caacaacaag aaccgcttct gcctgggcct gctctctaat gtcaatcgca 1321 actcgactat tgaaaacacc cgtcgccaca tcggcaaagg tgtccacctg tactatgttg 1381 gaggagaggt gtatgcagag tgtttgagtg ataccagcat ttttgtccag agtcgaaact 1441 gcaactacca tcatggcttt caccccacga ctgtctgcaa aatccccagc ggctgcagcc 1501 tcaagatctt caacaaccaa gaatttgctc agcttctcgc tcagtctgtc aaccatggct 1561 tcgaggccgt ctatgagctc accaagatgt gcaccatccg catgagcttt gtaaagggtt 1621 ggggtgccga gtaccacaga caagatgtga caagcacccc ctgctggata gaagtgcatc 1681 tccacggccc cctgcaatgg ctggataaag ttctaacaca aatgggttcc cctctgaacc 1741 ccatctcttc tgtctcgtaa tgatgggctg acctgggagg aagcctttgt tttcttcttc 1801 ttattttctt tcttcacttt tgaaagaaat aggaggtctt aagggctgaa ctgtttacac 1861 aacctgcaga atgccaccaa atcctgcagc agtcagaacg agaagatgaa tggggctaca 1921 agcacatcta gcataggaga atctaggcag tgacacaaaa tggactaact actgctttaa 1981 caattgactt catgttccgt tttgttgttt tttgcataca ttgttttaca atgatgcttg 2041 tatgactgat tttctctaac tgtaggtaat ctagtagatg acattgacat gctttcatgt 2101 atctctactt cactttacac cagttgaaaa atgcaattgc agtttcctag ttttatgaga 2161 atctttttaa ttgctatgtt gtctaatcct gttattcgca aggcatattt tcctttttat 2221 gtttactgtt agactcaaag ctcattacaa atgttccctt tttatagcat ctgttgcctt 2281 taggcaaatc aaagttactg cttttaaata aagttctttt atctgatgaa aaaaaaaaaa 2341 aaaaaaaaaa aa // LOCUS madh1 1419 bp mRNA linear VRT 05-NOV-2002 DEFINITION Danio rerio MAD homolog 1 (Drosophila) (madh1), mRNA. ACCESSION NM_131356 VERSION NM_131356.1 GI:18858984 KEYWORDS . SOURCE Danio rerio (zebrafish) ORGANISM Danio rerio Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Cyprinidae; Danio. REFERENCE 1 (bases 1 to 1419) AUTHORS Robinson,J., Schmitt,E.A., Harosi,F.I., Reece,R.J. and Dowling,J.E. TITLE Zebrafish ultraviolet visual pigment: absorption spectrum, sequence, and localization JOURNAL Proc. Natl. Acad. Sci. U.S.A. 90 (13), 6009-6012 (1993) MEDLINE 93317613 PUBMED 8327475 REFERENCE 2 (bases 1 to 1419) AUTHORS Robinson,J., Schmitt,E.A. and Dowling,J.E. TITLE Temporal and spatial patterns of opsin gene expression in zebrafish (Danio rerio) JOURNAL Vis. Neurosci. 12 (5), 895-906 (1995) MEDLINE 96244282 PUBMED 8924413 REFERENCE 3 (bases 1 to 1419) AUTHORS Muller,F., Blader,P., Rastegar,S., Fischer,N., Knochel,W. and Strahle,U. TITLE Characterization of zebrafish smad1, smad2 and smad5: the amino-terminus of smad1 and smad5 is required for specific function in the embryo JOURNAL Mech. Dev. 88 (1), 73-88 (1999) MEDLINE 99454756 PUBMED 10525190 REFERENCE 4 (bases 1 to 1419) AUTHORS Dick,A., Meier,A. and Hammerschmidt,M. TITLE Smad1 and Smad5 have distinct roles during dorsoventral patterning of the zebrafish embryo JOURNAL Dev. Dyn. 216 (3), 285-298 (1999) MEDLINE 20058452 PUBMED 10590480 REFERENCE 5 (bases 1 to 1419) AUTHORS Mowbray,C., Hammerschmidt,M. and Whitfield,T.T. TITLE Expression of BMP signalling pathway members in the developing zebrafish inner ear and lateral line JOURNAL Mech. Dev. 108 (1-2), 179-184 (2001) MEDLINE 21463385 PUBMED 11578872 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AF167985.1. FEATURES Location/Qualifiers source 1..1419 /organism="Danio rerio" /db_xref="taxon:7955" gene 1..1419 /gene="madh1" /db_xref="LocusID:30628" CDS 1..1419 /gene="madh1" /note="SMA- and MAD-related protein 1; MAD (mothers against decapentaplegic, Drosophila) homolog 1" /codon_start=1 /product="MAD homolog 1" /protein_id="NP_571431.1" /db_xref="GI:18858985" /db_xref="LocusID:30628" /translation="MNVTSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDALVKKLKKK KGAMEELERALSCPGQPSNCVTIPRSLDGRLQVSHRKVLPHVIYCRVWRWPDLQSHHE LKALECCEFPFGSKQKDVCINPYHYKRVDSPVLPPVLVPRNSEFNAKLSMLPRFRNPL HQTEPPMPQNATFPDSFPQQPANALPFTPNSPTNSYPSSPNSGTGSTATFPHSPSSSD PGSPFQMPETPPPAYMPPEEPMTQDCPQPMDTNLLAPNLPLEISNRTDVHPVAYQEPK HWCSIVYYELNNRVGEAFLASSTSVLVDGFTDPSNNRNRFCLGLLSNVNRNSTIENTR RHIGKGVHLYYVGGEVYAECLSDSSIFVQSRNCNYHHGFHPTTVCKIPSRCSLKIFNN QEFAELLAQSVNHGFEAVYELTKMCTIRMSFVKGWGAKYHRQDVTSTPCWIEIHLHGP LQWLDKVLTQMGSPHNPISSVS" misc_feature 40..390 /gene="madh1" /note="MH1; Region: MH1 domain. This is the MH1 (MAD homology 1) domain found at the amino terminus of MAD related proteins. This domain can bind to DNA. This domain is separated from the MH2 domain by a non-conserved linker region. The crystal structure of the MH1 domain shows that a highly conserved 11 residue beta hairpin is used to bind DNA in the major groove. Not all examples of MH1 can bind to DNA however. Smad2 cannot bind DNA and has a large insertion within the hairpin that presumably abolishes DNA binding" /db_xref="CDD:pfam03165" misc_feature 157..390 /gene="madh1" /note="DWA; Region: Domain A in dwarfin family proteins" /db_xref="CDD:smart00523" misc_feature 814..1350 /gene="madh1" /note="MH2; Region: MH2 domain. This is the MH2 (MAD homology 2) domain found at the carboxy terminus of MAD related proteins. This domain is separated from the MH1 domain by a non-conserved linker region. The MH2 domain mediates interaction with a wide variety of proteins" /db_xref="CDD:pfam03166" misc_feature 826..1344 /gene="madh1" /note="DWB; Region: Domain B in dwarfin family proteins" /db_xref="CDD:smart00524" BASE COUNT 352 a 432 c 335 g 300 t ORIGIN 1 atgaatgtca cctcactctt ttccttcacc agcccggcgg tcaaacgact gctgggctgg 61 aagcaagggg atgaagaaga gaagtgggca gagaaggcgg tggatgcact ggtcaagaag 121 ttgaagaaga agaagggcgc tatggaggaa ctagagaggg cactcagctg ccccggtcag 181 ccaagcaatt gtgtcactat cccacgctca ctggatggga ggcttcaggt atcacaccga 241 aaggtgcttc ctcacgtcat ctactgccgt gtgtggcgat ggcccgacct gcaatcgcac 301 catgagctca aggccctaga gtgctgtgag tttccttttg gatccaagca gaaggatgtg 361 tgcatcaacc cttaccacta caaaagggtg gacagtccag tgctgccacc cgtgctggtt 421 ccacgaaaca gcgagttcaa cgctaaactc tccatgctgc cacgcttccg taacccactc 481 caccagacgg agccccccat gcctcagaac gccaccttcc cagactcctt cccccagcag 541 ccagcaaatg cccttccctt taccccgaac tccccaacca acagttatcc cagctcgccc 601 aacagcggca caggcagcac tgccaccttt ccgcattcgc catccagctc agatccaggc 661 agcccttttc agatgccaga aacccctcca cctgcgtata tgcctccaga ggagccaatg 721 acacaggact gtccccagcc aatggacact aacctattag ctccaaactt gccattggag 781 atcagcaacc gaacagatgt tcatcctgtg gcctatcagg aacccaagca ctggtgctcc 841 attgtgtact atgagctgaa taatcgtgtg ggtgaagcct ttctggcctc atccaccagt 901 gtactcgtgg atggctttac tgacccatcc aacaaccgca accgcttctg cctgggtctg 961 ctgtcaaatg tcaaccggaa ctcaaccatc gaaaacaccc ggcgtcacat cggaaaagga 1021 gtccatttgt actatgtggg aggagaggtg tatgccgaat gtttgagcga cagcagtatc 1081 tttgtccaga gccgcaactg caattaccac catggtttcc accccaccac cgtatgcaag 1141 atccccagtc gctgcagcct caagatcttc aacaaccagg agtttgcaga gctcttggca 1201 cagtcagtca atcacggttt tgaagctgtc tatgaactca ccaagatgtg caccatccgc 1261 atgagttttg taaagggctg gggtgcaaag taccatcggc aggatgtgac cagcaccccg 1321 tgctggattg agattcatct tcatggaccc ctgcagtggt tggataaagt cctcacccag 1381 atgggatctc ctcacaaccc catttcttca gtgtcctag // LOCUS gsc 1252 bp mRNA linear VRT 05-NOV-2002 DEFINITION Danio rerio goosecoid (gsc), mRNA. ACCESSION NM_131017 VERSION NM_131017.1 GI:18858778 KEYWORDS . SOURCE Danio rerio (zebrafish) ORGANISM Danio rerio Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Cyprinidae; Danio. REFERENCE 1 (bases 1 to 1252) AUTHORS Stachel,S.E., Grunwald,D.J. and Myers,P.Z. TITLE Lithium perturbation and goosecoid expression identify a dorsal specification pathway in the pregastrula zebrafish JOURNAL Development 117 (4), 1261-1274 (1993) MEDLINE 94008530 PUBMED 8104775 REFERENCE 2 (bases 1 to 1252) AUTHORS Robinson,J., Schmitt,E.A., Harosi,F.I., Reece,R.J. and Dowling,J.E. TITLE Zebrafish ultraviolet visual pigment: absorption spectrum, sequence, and localization JOURNAL Proc. Natl. Acad. Sci. U.S.A. 90 (13), 6009-6012 (1993) MEDLINE 93317613 PUBMED 8327475 REFERENCE 3 (bases 1 to 1252) AUTHORS Xu,Q., Holder,N., Patient,R. and Wilson,S.W. TITLE Spatially regulated expression of three receptor tyrosine kinase genes during gastrulation in the zebrafish JOURNAL Development 120 (2), 287-299 (1994) MEDLINE 94200158 PUBMED 8149909 REFERENCE 4 (bases 1 to 1252) AUTHORS Schulte-Merker,S., Hammerschmidt,M., Beuchle,D., Cho,K.W., De Robertis,E.M. and Nusslein-Volhard,C. TITLE Expression of zebrafish goosecoid and no tail gene products in wild-type and mutant no tail embryos JOURNAL Development 120 (4), 843-852 (1994) MEDLINE 95324371 PUBMED 7600961 REFERENCE 5 (bases 1 to 1252) AUTHORS Thisse,C., Thisse,B., Halpern,M.E. and Postlethwait,J.H. TITLE Goosecoid expression in neurectoderm and mesendoderm is disrupted in zebrafish cyclops gastrulas JOURNAL Dev. Biol. 164 (2), 420-429 (1994) MEDLINE 94320695 PUBMED 8045345 REFERENCE 6 (bases 1 to 1252) AUTHORS Robinson,J., Schmitt,E.A. and Dowling,J.E. TITLE Temporal and spatial patterns of opsin gene expression in zebrafish (Danio rerio) JOURNAL Vis. Neurosci. 12 (5), 895-906 (1995) MEDLINE 96244282 PUBMED 8924413 REFERENCE 7 (bases 1 to 1252) AUTHORS Sagerstrom,C.G., Grinbalt,Y. and Sive,H. TITLE Anteroposterior patterning in the zebrafish, Danio rerio: an explant assay reveals inductive and suppressive cell interactions JOURNAL Development 122 (6), 1873-1883 (1996) MEDLINE 96232301 PUBMED 8674426 REFERENCE 8 (bases 1 to 1252) AUTHORS Hammerschmidt,M., Pelegri,F., Mullins,M.C., Kane,D.A., Brand,M., van Eeden,F.J., Furutani-Seiki,M., Granato,M., Haffter,P., Heisenberg,C.P., Jiang,Y.J., Kelsh,R.N., Odenthal,J., Warga,R.M. and Nusslein-Volhard,C. TITLE Mutations affecting morphogenesis during gastrulation and tail formation in the zebrafish, Danio rerio JOURNAL Development 123, 143-151 (1996) MEDLINE 97159720 PUBMED 9007236 REFERENCE 9 (bases 1 to 1252) AUTHORS Heisenberg,C.P., Brand,M., Jiang,Y.J., Warga,R.M., Beuchle,D., van Eeden,F.J., Furutani-Seiki,M., Granato,M., Haffter,P., Hammerschmidt,M., Kane,D.A., Kelsh,R.N., Mullins,M.C., Odenthal,J. and Nusslein-Volhard,C. TITLE Genes involved in forebrain development in the zebrafish, Danio rerio JOURNAL Development 123, 191-203 (1996) MEDLINE 97159724 PUBMED 9007240 REFERENCE 10 (bases 1 to 1252) AUTHORS Schier,A.F., Neuhauss,S.C., Helde,K.A., Talbot,W.S. and Driever,W. TITLE The one-eyed pinhead gene functions in mesoderm and endoderm formation in zebrafish and interacts with no tail JOURNAL Development 124 (2), 327-342 (1997) MEDLINE 97178968 PUBMED 9053309 REFERENCE 11 (bases 1 to 1252) AUTHORS Bisgrove,B.W., Essner,J.J. and Yost,H.J. TITLE Regulation of midline development by antagonism of lefty and nodal signaling JOURNAL Development 126 (14), 3253-3262 (1999) MEDLINE 99307087 PUBMED 10375514 REFERENCE 12 (bases 1 to 1252) AUTHORS Koos,D.S. and Ho,R.K. TITLE The nieuwkoid/dharma homeobox gene is essential for bmp2b repression in the zebrafish pregastrula JOURNAL Dev. Biol. 215 (2), 190-207 (1999) MEDLINE 20014846 PUBMED 10545230 REFERENCE 13 (bases 1 to 1252) AUTHORS Shimizu,T., Yamanaka,Y., Ryu,S.L., Hashimoto,H., Yabe,T., Hirata,T., Bae,Y.K., Hibi,M. and Hirano,T. TITLE Cooperative roles of Bozozok/Dharma and Nodal-related proteins in the formation of the dorsal organizer in zebrafish JOURNAL Mech. Dev. 91 (1-2), 293-303 (2000) MEDLINE 20171051 PUBMED 10704853 REFERENCE 14 (bases 1 to 1252) AUTHORS Saude,L., Woolley,K., Martin,P., Driever,W. and Stemple,D.L. TITLE Axis-inducing activities and cell fates of the zebrafish organizer JOURNAL Development 127 (16), 3407-3417 (2000) MEDLINE 20363650 PUBMED 10903167 REFERENCE 15 (bases 1 to 1252) AUTHORS Bisgrove,B.W., Essner,J.J. and Yost,H.J. TITLE Multiple pathways in the midline regulate concordant brain, heart and gut left-right asymmetry JOURNAL Development 127 (16), 3567-3579 (2000) MEDLINE 20363664 PUBMED 10903181 REFERENCE 16 (bases 1 to 1252) AUTHORS Kelly,C., Chin,A.J., Leatherman,J.L., Kozlowski,D.J. and Weinberg,E.S. TITLE Maternally controlled (beta)-catenin-mediated signaling is required for organizer formation in the zebrafish JOURNAL Development 127 (18), 3899-3911 (2000) MEDLINE 20411166 PUBMED 10952888 REFERENCE 17 (bases 1 to 1252) AUTHORS Pogoda,H.M., Solnica-Krezel,L., Driever,W. and Meyer,D. TITLE The zebrafish forkhead transcription factor FoxH1/Fast1 is a modulator of nodal signaling required for organizer formation JOURNAL Curr. Biol. 10 (17), 1041-1049 (2000) MEDLINE 20453762 PUBMED 10996071 REFERENCE 18 (bases 1 to 1252) AUTHORS Sirotkin,H.I., Gates,M.A., Kelly,P.D., Schier,A.F. and Talbot,W.S. TITLE Fast1 is required for the development of dorsal axial structures in zebrafish JOURNAL Curr. Biol. 10 (17), 1051-1054 (2000) MEDLINE 20453763 PUBMED 10996072 REFERENCE 19 (bases 1 to 1252) AUTHORS Piotrowski,T. and Nusslein-Volhard,C. TITLE The endoderm plays an important role in patterning the segmented pharyngeal region in zebrafish (Danio rerio) JOURNAL Dev. Biol. 225 (2), 339-356 (2000) MEDLINE 20442154 PUBMED 10985854 REFERENCE 20 (bases 1 to 1252) AUTHORS Kawahara,A., Wilm,T., Solnica-Krezel,L. and Dawid,I.B. TITLE Antagonistic role of vega1 and bozozok/dharma homeobox genes in organizer formation JOURNAL Proc. Natl. Acad. Sci. U.S.A. 97 (22), 12121-12126 (2000) MEDLINE 20504473 PUBMED 11050240 REFERENCE 21 (bases 1 to 1252) AUTHORS Kawahara,A., Wilm,T., Solnica-Krezel,L. and Dawid,I.B. TITLE Functional interaction of vega2 and goosecoid homeobox genes in zebrafish JOURNAL Genesis 28 (2), 58-67 (2000) MEDLINE 21062108 PUBMED 11064422 REFERENCE 22 (bases 1 to 1252) AUTHORS Chen,S. and Kimelman,D. TITLE The role of the yolk syncytial layer in germ layer patterning in zebrafish JOURNAL Development 127 (21), 4681-4689 (2000) MEDLINE 20480559 PUBMED 11023870 REFERENCE 23 (bases 1 to 1252) AUTHORS Goutel,C., Kishimoto,Y., Schulte-Merker,S. and Rosa,F. TITLE The ventralizing activity of Radar, a maternally expressed bone morphogenetic protein, reveals complex bone morphogenetic protein interactions controlling dorso-ventral patterning in zebrafish JOURNAL Mech. Dev. 99 (1-2), 15-27 (2000) MEDLINE 20544950 PUBMED 11091070 REFERENCE 24 (bases 1 to 1252) AUTHORS Gonzalez,E.M., Fekany-Lee,K., Carmany-Rampey,A., Erter,C., Topczewski,J., Wright,C.V. and Solnica-Krezel,L. TITLE Head and trunk in zebrafish arise via coinhibition of BMP signaling by bozozok and chordino JOURNAL Genes Dev. 14 (24), 3087-3092 (2000) MEDLINE 20573920 PUBMED 11124801 REFERENCE 25 (bases 1 to 1252) AUTHORS Winkler,C. and Moon,R.T. TITLE Zebrafish mdk2, a novel secreted midkine, participates in posterior neurogenesis JOURNAL Dev. Biol. 229 (1), 102-118 (2001) MEDLINE 20575908 PUBMED 11133157 REFERENCE 26 (bases 1 to 1252) AUTHORS Muller,F., Lakatos,L., Dantonel,J., Strahle,U. and Tora,L. TITLE TBP is not universally required for zygotic RNA polymerase II transcription in zebrafish JOURNAL Curr. Biol. 11 (4), 282-287 (2001) MEDLINE 21148089 PUBMED 11250159 REFERENCE 27 (bases 1 to 1252) AUTHORS Chan,J., Mably,J.D., Serluca,F.C., Chen,J.N., Goldstein,N.B., Thomas,M.C., Cleary,J.A., Brennan,C., Fishman,M.C. and Roberts,T.M. TITLE Morphogenesis of prechordal plate and notochord requires intact Eph/ephrin B signaling JOURNAL Dev. Biol. 234 (2), 470-482 (2001) MEDLINE 21290827 PUBMED 11397014 REFERENCE 28 (bases 1 to 1252) AUTHORS Andreazzoli,M., Broccoli,V. and Dawid,I.B. TITLE Cloning and expression of noz1, a zebrafish zinc finger gene related to Drosophila nocA JOURNAL Mech. Dev. 104 (1-2), 117-120 (2001) MEDLINE 21297711 PUBMED 11404087 REFERENCE 29 (bases 1 to 1252) AUTHORS Dickmeis,T., Mourrain,P., Saint-Etienne,L., Fischer,N., Aanstad,P., Clark,M., Strahle,U. and Rosa,F. TITLE A crucial component of the endoderm formation pathway, CASANOVA, is encoded by a novel sox-related gene JOURNAL Genes Dev. 15 (12), 1487-1492 (2001) MEDLINE 21303274 PUBMED 11410529 REFERENCE 30 (bases 1 to 1252) AUTHORS Kikuchi,Y., Agathon,A., Alexander,J., Thisse,C., Waldron,S., Yelon,D., Thisse,B. and Stainier,D.Y. TITLE casanova encodes a novel Sox-related protein necessary and sufficient for early endoderm formation in zebrafish JOURNAL Genes Dev. 15 (12), 1493-1505 (2001) MEDLINE 21303275 PUBMED 11410530 REFERENCE 31 (bases 1 to 1252) AUTHORS Kudoh,T. and Dawid,I.B. TITLE Role of the iroquois3 homeobox gene in organizer formation JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (14), 7852-7857 (2001) MEDLINE 21332328 PUBMED 11438735 REFERENCE 32 (bases 1 to 1252) AUTHORS Erter,C.E., Wilm,T.P., Basler,N., Wright,C.V. and Solnica-Krezel,L. TITLE Wnt8 is required in lateral mesendodermal precursors for neural posteriorization in vivo JOURNAL Development 128 (18), 3571-3583 (2001) MEDLINE 21450573 PUBMED 11566861 REFERENCE 33 (bases 1 to 1252) AUTHORS Lele,Z., Nowak,M. and Hammerschmidt,M. TITLE Zebrafish admp is required to restrict the size of the organizer and to promote posterior and ventral development JOURNAL Dev. Dyn. 222 (4), 681-687 (2001) MEDLINE 21614694 PUBMED 11748836 REFERENCE 34 (bases 1 to 1252) AUTHORS Mathieu,J., Barth,A., Rosa,F.M., Wilson,S.W. and Peyrieras,N. TITLE Distinct and cooperative roles for Nodal and Hedgehog signals during hypothalamic development JOURNAL Development 129 (13), 3055-3065 (2002) MEDLINE 22065256 PUBMED 12070082 REFERENCE 35 (sites) AUTHORS Stachel,S.E., Grunwald,D.J. and Myers,P.Z. TITLE Lithium perturbation and goosecoid expression identify a dorsal specification pathway in the pre-gastrula zebrafish JOURNAL Unpublished (1992) COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from L03395.1. FEATURES Location/Qualifiers source 1..1252 /organism="Danio rerio" /db_xref="taxon:7955" /chromosome="LG 17" /map="LG 17" /tissue_type="embryo" /dev_stage="gastrula (6-9 hours post fertilization)" gene 1..1252 /gene="gsc" /db_xref="LocusID:30212" CDS 137..859 /gene="gsc" /citation=[35] /codon_start=1 /product="goosecoid" /protein_id="NP_571092.1" /db_xref="GI:18858779" /db_xref="LocusID:30212" /translation="MPAGMFSIDSILAGRPSCKDSVLLHRNAPVVFSNLTESLYTAAG DFNGLYSHTGPPAPNLQSVNGRIGYNNYYYGQLHVQGPTGPACCGAIPTLGSQQCPCI PTGYDSAGSVLISPVPHQMMSYMNVGTLSRTELQLLNQLHCRRKRRHRTIFTDEQLEA LENLFQETKYPDVGTREQLARKVHLREEKVEVWFKNRRAKWRRQKRSSSEESENSQKW NKSTKTTSEKIEEGKSDVDSDS" misc_feature 572..733 /gene="gsc" /note="HOX; Region: Homeodomain" /db_xref="CDD:smart00389" misc_feature 575..733 /gene="gsc" /note="homeobox; Region: Homeobox domain" /db_xref="CDD:pfam00046" misc_feature 449^450 /gene="gsc" /note="exon-exon splice boundary" misc_feature 571..751 /gene="gsc" /standard_name="goosecoid homeodomain" /note="bicoid-type homeobox domain" /citation=[35] BASE COUNT 401 a 264 c 280 g 307 t ORIGIN 1 cgcggtcact cttacaacag gaaacaaaca gaattcgcgg tttttgtcac tatgaaggac 61 actcgtgctt tttaaaagga ctaaaataac acgttattac cgttggcaac aaatctcaca 121 catcttttcg cttgtgatgc ccgctgggat gtttagtatc gacagcatct tggccgggag 181 acccagctgc aaagactcgg ttctgctcca ccggaatgcc ccggttgtgt tctccaactt 241 gacggaatcc ttgtacacgg cagctggcga ttttaatgga ctgtattcac acacaggacc 301 tccagcgccg aacttacaat cggtgaatgg aaggataggc tacaacaact actactatgg 361 acaacttcac gtccaggggc cgactggacc agcttgctgt ggcgcaatac caacccttgg 421 ttcgcaacag tgtccgtgta ttcctacagg ttatgacagc gccggctctg tgcttatttc 481 tccagtccca catcaaatga tgtcgtacat gaacgtgggc accttgtcca gaaccgagct 541 acagctgctc aaccagctac actgtcggcg caagagacga caccgaacca ttttcaccga 601 cgagcagctg gaggcactgg aaaacctttt tcaagaaacg aaataccctg acgtcggcac 661 aagagaacaa ctggcacgaa aggtgcacct acgtgaagag aaggtagagg tttggttcaa 721 aaacagacga gcaaaatgga gaagacagaa aaggtcgtcg tcagaggaat cagaaaactc 781 acagaaatgg aacaaatcca cgaaaacaac ctcagagaaa attgaggagg gcaaaagcga 841 cgtggattct gacagctgat ataaagaaca cgagaacggg aaatcttgca caaatataat 901 tcggacttta ttgtacatat tgtaaagtat gtgagttgga gtaaatagtg ttgtcttgct 961 gttgcacaga tgtatagtaa atgttacctt taacaatgat atagttattt atattaattt 1021 aaatttacag acaaaataac gtggattcta gccatagtaa tattacctgg tgtatactgc 1081 aaacgttttt aaagtcttgt cgtgataaga tgtacctaaa tctgatgttc tggaatgggc 1141 tgtagctgaa gacatgtacg atggcaggac gatacattcg gacattaatt aatttaaagt 1201 ttaatgtcgc ctgaaaacag gaacaaatat taaagtaata tctaaaaaaa aa //