LOCUS HSU89353 1557 bp mRNA linear HUM 25-MAR-1999 DEFINITION Homo sapiens transcription factor T-box 5 (TBX5) mRNA, alternatively spliced, complete cds. ACCESSION U89353 VERSION U89353.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 1557) AUTHORS Basson,C.T., Bachinsky,D.R., Lin,R.C., Levi,T., Elkins,J.A., Soults,J., Grayzel,D., Kroumpouzou,E., Traill,T.A., Leblanc-Straceski,J., Renault,B., Kucherlapati,R., Seidman,J.G. and Seidman,C.E. TITLE Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome JOURNAL Nat. Genet. 15 (1), 30-35 (1997) PUBMED 8988165 REFERENCE 2 (bases 1 to 1557) AUTHORS Basson,C.T., Huang,T., Lin,R.C., Bachinsky,D.R., Weremowicz,S., Vaglio,A., Bruzzone,R., Quadrelli,R., Lerone,M., Romeo,G., Silengo,M., Pereira,A., Krieger,J., Mesquita,S.F., Kamisago,M., Morton,C.C., Pierpont,M.E., Muller,C.W., Seidman,J.G. and Seidman,C.E. TITLE Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (6), 2919-2924 (1999) PUBMED 10077612 REFERENCE 3 (bases 1 to 1557) AUTHORS Basson,C.T. TITLE Direct Submission JOURNAL Submitted (12-FEB-1997) Molecular Cardiology Laboratory, Cardiology Division, Cornell University Medical College, Starr 4, 525 E. 68th Street, New York, NY 10021, USA REFERENCE 4 (bases 1 to 1557) AUTHORS Basson,C.T., Lin,R.C., Bachinksy,D.R., Seidman,J.G. and Seidman,C.E. TITLE Direct Submission JOURNAL Submitted (12-FEB-1997) Medicine, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA FEATURES Location/Qualifiers source 1..1557 /db_xref="H-InvDB:HIT000222128" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="12" /map="12q24.1" gene 1..1557 /gene="TBX5" CDS 1..1557 /gene="TBX5" /note="TBX5; alternatively spliced; see alternative TBX5 mRNA in GenBank Accession Number U80987; T-box transcription factor family member" /codon_start=1 /product="transcription factor T-box 5" /protein_id="AAC04619.1" /translation="MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQA AFTQQGMEGIKVFLHERELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYIL LMDIVPADDHRYKFADNKWSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKL TNNHLDPFGHIILNSMHKYQPRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQ NHKITQLKIENNPFAKGFRGSDDMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSS ESRALSTSSNLGSQYQCENGVSGPSQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTT DHPYKKPYMETSPSEEDSFYRSSYPQQQGLGASYRTESAQRQACMYASSAPPSEPVPS LEDISCNTWPSMPSYSSCTVTTVQPMDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQL GEGMFQHQTSVAHQPVVRQCGPQTGLQSPGTLQPPEFLYSHGVPRTLSPHQYHSVHGV GMVPEWSDNS" BASE COUNT 393 a 489 c 376 g 299 t ORIGIN 1 atggccgacg cagacgaggg ctttggcctg gcgcacacgc ctctggagcc tgacgcaaaa 61 gacctgccct gcgattcgaa acccgagagc gcgctcgggg cccccagcaa gtccccgtcg 121 tccccgcagg ccgccttcac ccagcagggc atggagggaa tcaaagtgtt tctccatgaa 181 agagaactgt ggctaaaatt ccacgaagtg ggcacggaaa tgatcataac caaggctgga 241 aggcggatgt ttcccagtta caaagtgaag gtgacgggcc ttaatcccaa aacgaagtac 301 attcttctca tggacattgt acctgccgac gatcacagat acaaattcgc agataataaa 361 tggtctgtga cgggcaaagc tgagcccgcc atgcctggcc gcctgtacgt gcacccagac 421 tcccccgcca ccggggcgca ttggatgagg cagctcgtct ccttccagaa actcaagctc 481 accaacaacc acctggaccc atttgggcat attattctaa attccatgca caaataccag 541 cctagattac acatcgtgaa agcggatgaa aataatggat ttggctcaaa aaatacagcg 601 ttctgcactc acgtctttcc tgagactgcg tttatagcag tgacttccta ccagaaccac 661 aagatcacgc aattaaagat tgagaataat ccctttgcca aaggatttcg gggcagtgat 721 gacatggagc tgcacagaat gtcaagaatg caaagtaaag aatatcccgt ggtccccagg 781 agcaccgtga ggcaaaaagt ggcctccaac cacagtcctt tcagcagcga gtctcgagct 841 ctctccacct catccaattt ggggtcccaa taccagtgtg agaatggtgt ttccggcccc 901 tcccaggacc tcctgcctcc acccaaccca tacccactgc cccaggagca tagccaaatt 961 taccattgta ccaagaggaa agaggaagaa tgttccacca cagaccatcc ctataagaag 1021 ccctacatgg agacatcacc cagtgaagaa gattccttct accgctctag ctatccacag 1081 cagcagggcc tgggtgcctc ctacaggaca gagtcggcac agcggcaagc ttgcatgtat 1141 gccagctctg cgccccccag cgagcctgtg cccagcctag aggacatcag ctgcaacacg 1201 tggccaagca tgccttccta cagcagctgc accgtcacca ccgtgcagcc catggacagg 1261 ctaccctacc agcacttctc cgctcacttc acctcggggc ccctggtccc tcggctggct 1321 ggcatggcca accatggctc cccacagctg ggagagggaa tgttccagca ccagacctcc 1381 gtggcccacc agcctgtggt caggcagtgt gggcctcaga ctggcctgca gtcccctggc 1441 acccttcagc cccctgagtt cctctactct catggcgtgc caaggactct atcccctcat 1501 cagtaccact ctgtgcacgg agttggcatg gtgccagagt ggagcgacaa tagctaa //