LOCUS X62009 2823 bp mRNA linear HUM 29-SEP-1999 DEFINITION Homo sapiens partial mRNA for fibrillin 5. ACCESSION X62009 VERSION X62009.1 KEYWORDS EGF-like repeat; fibrillin 5. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 AUTHORS Lee B., Godfrey M., Vitale E., Hori H., Mattei M.G., Sarfarazi M, Tsipouras P., Ramirez F., Hollister D. TITLE Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes JOURNAL Nature 352(6333), 330-334(1991). PUBMED 1852206 REFERENCE 2 (bases 1 to 2823) AUTHORS Milewicz D.M. JOURNAL Submitted (30-DEC-1992) to the INSDC. D.M. Milewicz, University of Texas Medical School at Houston, Dep.of Internal Medicine, Division of Cardiology, 6431 Fannin, Suite 1.614,TX 77030 Houston, USA FEATURES Location/Qualifiers source 1..2823 /db_xref="H-InvDB:HIT000322502" /organism="Homo sapiens" /chromosome="5" /map="5q23-q31" /mol_type="mRNA" /cell_line="primary fibroblast culture" /cell_type="fibroblast" /db_xref="taxon:9606" CDS <1..2265 /codon_start=1 /product="fibrillin 5" /db_xref="GOA:P35556" /db_xref="H-InvDB:HIT000322502.14" /db_xref="HGNC:HGNC:3604" /db_xref="InterPro:IPR000152" /db_xref="InterPro:IPR000742" /db_xref="InterPro:IPR001881" /db_xref="InterPro:IPR009030" /db_xref="InterPro:IPR013032" /db_xref="InterPro:IPR017878" /db_xref="InterPro:IPR018097" /db_xref="InterPro:IPR026823" /db_xref="InterPro:IPR036773" /db_xref="InterPro:IPR040872" /db_xref="UniProtKB/Swiss-Prot:P35556" /protein_id="CAB56757.1" /translation="HGLCSSGVGITVDGRDINECALDPDICANGICENLRGSYRCNCN SGYEPDASGRNCIDIDECLVNRLLCDNGLCRNTPGSYSCTCPPGYVFRTETETCEDIN ECESNPCVNGACRNNLGSFNCECSPGSKLSSTGLICIDSLKGTCWLNIQDSRCEVNIN GATLKSECCATLGAAWGSPCERCELDTACPRGLARIKGVTCEDVNECEVFPGVCPNGR CVNSKGSFHCECPEGLTLDGTGRVCLDIRMEQCYLKWDEDECIHPVPGKFRMDACCCA VGAAWGTECEECPKPGTKEYETLCPRGAGFANRGDVLTGRPFYKDINECKAFPGMCTY GKCRNTIGSFKCRCNSGFALDMEERNCTDIDECRISPDLCGSGICVNTPGSFECECFE GYESGFMMMKNCMDIDGCERNPLLCRGGTCVNTEGSFQCDCPLGHELSPSREDCVDIN ECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCTDIDECMIMNGGCDTQCTNS EGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASM DMKTCIDVNECDLNSNICMFGECENTKGSFICHCQLGYSVKKGTTGCTDVDECEIGAH NCDMHASCLNIPGSFKCSCREGWIGNGIKCIDRDECSNGTHQCSINAQCVNTPGSYRC ACSEGFTGDGFTCSDVDECAENINLCENGQCLNVPGAYRCECEMGFTPASDSRSCQGG SPGFQLIFKLDQPQ" BASE COUNT 740 a 578 c 739 g 766 t ORIGIN 1 cacggccttt gtagtagtgg agtaggtatc actgtggatg gaagagatat caatgaatgt 61 gctttggatc ctgatatatg tgccaatggg atttgtgaaa acttacgtgg tagttaccgt 121 tgtaattgca acagtggcta tgaaccagat gcctctggaa gaaactgtat tgacattgat 181 gaatgtttag taaacagact gctttgtgat aacggattgt gccgaaacac gccaggaagt 241 tacagctgta cgtgcccacc agggtatgtg ttcaggactg agacagagac ctgtgaagat 301 ataaatgaat gtgaaagcaa cccatgtgtc aatggggcct gcagaaacaa ccttggatct 361 ttcaattgtg aatgttcgcc cggcagcaaa ctcagctcca caggattgat ctgtattgac 421 agcctgaagg ggacctgttg gctcaacatc caggacagcc gctgtgaggt gaatattaat 481 ggagccactc tgaaatctga atgctgtgcc accctcggag ccgcctgggg gagcccctgt 541 gagcggtgtg aactagatac agcttgccca agagggcttg ccaggattaa aggtgttacg 601 tgtgaagatg ttaatgagtg tgaggtgttc cctggcgttt gtccaaatgg acgctgtgtc 661 aacagtaagg gatcttttca ttgcgagtgc cctgaaggcc ttacgttgga tgggactggc 721 cgtgtatgtt tggatattcg catggagcag tgttacttga agtgggatga agatgaatgc 781 atccaccccg ttcctggaaa gttccgcatg gatgcctgct gctgtgctgt cggggcggct 841 tggggcaccg agtgtgagga gtgccccaaa cctggcacca aggaatacga gacactgtgc 901 ccccgcgggg ctggctttgc taaccgaggg gatgttctta ctgggcggcc attttacaaa 961 gacatcaatg aatgcaaagc atttcctggg atgtgcactt atgggaagtg cagaaataca 1021 atcggaagct tcaaatgccg ttgcaatagt ggctttgctc tagacatgga ggaaagaaac 1081 tgcacggaca tcgacgagtg caggatttct cctgacctct gtggcagtgg aatctgcgtc 1141 aatacaccgg gcagctttga gtgcgagtgc ttcgaaggct atgaaagtgg cttcatgatg 1201 atgaagaact gcatggacat tgacggatgt gaacgtaacc ctctcctttg taggggtggc 1261 acctgtgtga acactgaggg cagctttcag tgtgactgcc cactgggaca cgagctgtca 1321 ccatcccgtg aggactgtgt ggatattaat gaatgctccc tgagtgacaa tctctgcaga 1381 aatggaaaat gtgtgaacat gattggaacc tatcagtgct cttgcaatcc tggatatcag 1441 gctacgccag accgccaggg ctgtacagat attgatgaat gtatgataat gaacggaggc 1501 tgtgacaccc agtgcacaaa ttcagaggga agctacgaat gcagctgcag tgagggttat 1561 gccctgatgc cagatgggag atcgtgtgca gacattgatg aatgtgaaaa caatcctgat 1621 atctgtgatg gcggccagtg taccaacatt cctggagagt atcgctgcct ctgctatgat 1681 ggcttcatgg cttccatgga catgaaaaca tgcattgatg tcaatgaatg tgacctaaat 1741 tcaaatatct gcatgtttgg ggaatgtgag aacacaaagg gatccttcat ttgccactgt 1801 cagctgggtt actcagtgaa gaaggggacc acaggatgta cagatgtgga tgagtgtgaa 1861 attggtgctc ataactgcga catgcatgcc tcatgtctga atatcccagg aagcttcaag 1921 tgtagctgca gagaaggctg gattggaaac ggcatcaagt gtattgatcg tgacgaatgt 1981 tctaatggaa cccaccagtg tagcatcaat gctcagtgtg taaatacccc gggctcatac 2041 cgctgtgcct gctccgaagg tttcactggt gatggcttta cctgctcaga tgttgatgag 2101 tgtgcagaaa acataaacct ctgtgagaac ggacagtgcc ttaatgtccc gggtgcatat 2161 cgctgcgagt gtgagatggg cttcactcca gcctcagaca gcagatcctg ccaaggtggg 2221 tcaccaggat tccaactcat tttcaagttg gatcaaccac agtaaatgaa accacaacaa 2281 gggctggaac aagctccacc tggaagcaga atacatagca catgctgcac tataaaagtc 2341 attcgtttaa gcgtggatta ttttgccgaa tgaataatga tgatggcggc tttcatctct 2401 tatgaagttt tcctggccaa gagccagtag ttggaagttt ggatcattct tttttctttt 2461 ttaatcattt cttctcttct ttctcttttt tatcactaaa tgaatgacat gtggagaaac 2521 tattcagctt ttaaagtatg ctccattact tgtctcaact accactattt attgtgttta 2581 tcaaaatcat aaaaagctca tttttggcat ttaccttcgt ggttgagact gctgtctgta 2641 tgtctgggaa tggaagtcct cttcagggat tcagcaaggg ctgtactttt gcttaatact 2701 agtggttcct tattctaagt gatgacatca tccacctttc ctagaaatgg gtctttgtgc 2761 ctagtatgat atctttccaa gaaaaagaat ttggattttc tattaaatta gaaactcaat 2821 tcc //