LOCUS AF012131 1538 bp mRNA linear HUM 01-JAN-1998
DEFINITION Homo sapiens brachyury variant B (TBX1) mRNA, complete cds.
ACCESSION AF012131
VERSION AF012131.1
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 1538)
AUTHORS Chieffo,C., Garvey,N., Gong,W., Roe,B., Zhang,G., Silver,L.,
Emanuel,B.S. and Budarf,M.L.
TITLE Isolation and characterization of a gene from the DiGeorge
chromosomal region homologous to the mouse Tbx1 gene
JOURNAL Genomics 43 (3), 267-277 (1997)
PUBMED 9268629
REFERENCE 2 (bases 1 to 1538)
AUTHORS Chieffo,C., Garvey,N., Gong,W., Roe,B., Zhang,G., Silver,L.,
Emanuel,B.S. and Budarf,M.L.
TITLE Direct Submission
JOURNAL Submitted (01-JUL-1997) Div. of Human Genetics, Children's Hosp. of
Phila., 1 Children's Center, Philadelphia, PA 19104, USA
FEATURES Location/Qualifiers
source 1..1538
/db_xref="H-InvDB:HIT000062235"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q11"
/tissue_type="adult skeletal muscle; testis"
gene 1..1538
/gene="TBX1"
CDS 130..1248
/gene="TBX1"
/note="variant B; similar to murine Tbx1"
/codon_start=1
/product="brachyury"
/protein_id="AAB94019.1"
/translation="MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPP
PPPPRYDPCAAAAPGAPGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVK
KNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLM
DFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKL
TNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAY
QNHRITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGT
EKGLVTEGSGLQPGLLDVLLKPPSKKSESLRPPHCKDT"
BASE COUNT 321 a 511 c 481 g 225 t
ORIGIN
1 ccggcagggg gagcgaggag gaagggaacc gcggccgggc cagcggaggc ggcggagcgc
61 accgcccacc agggctcagg gtcctccgac cgggtgaagc ttcgctggct gccaggatcc
121 ccggcaggga tgcacttcag caccgtcacc agggacatgg aagccttcac ggccagcagc
181 ctgagcagcc tgggggccgc ggggggcttc ccgggcgccg cgtcgcccgg cgccgacccg
241 tacggcccgc gcgagccccc gccgccgccg ccgcgctacg acccgtgcgc cgccgccgcc
301 cccggcgccc cgggcccgcc gccgccgccg cacgcctacc cgtttgcgcc ggccgccggg
361 gccgccacca gcgccgccgc cgagcccgag ggccccgggg ccagctgcgc ggccgcagcc
421 aaggcgccgg tgaagaagaa cgcgaaggtg gccggtgtga gcgtgcagct agagatgaag
481 gcgctgtggg acgagttcaa ccagctgggc accgagatga tcgtcaccaa ggccggcagg
541 cggatgtttc ccaccttcca agtgaagctc ttcggcatgg atcccatggc cgactatatg
601 ctgctcatgg acttcgtgcc ggtggacgat aagcgctacc ggtacgcctt ccacagctcc
661 tcctggctgg tggcggggaa ggccgaccct gccacgccag gccgcgtgca ctaccacccg
721 gactcgcctg ccaagggcgc gcagtggatg aagcaaatcg tgtccttcga caagctcaag
781 ctgaccaaca acctactgga cgacaacggc cacattattc tgaattccat gcacagatac
841 cagccccgct tccacgtggt ctatgtggac ccacgcaaag atagcgagaa atatgccgag
901 gagaacttca aaacctttgt gttcgaggag acacgattca ccgcggtcac tgcctaccag
961 aaccatcgga tcacgcagct caagattgcc agcaatccct tcgcgaaagg cttccgggac
1021 tgtgaccctg aggactggcc ccggaaccac cggcccggcg cactgccgct catgagcgcc
1081 ttcgcgcgct cgcggaaccc cgtggcttcc ccgacgcagc ccagcggcac ggagaaaggg
1141 ctggtcacag aaggctctgg gctccaacct ggcttgctgg acgtgctctt gaagccccca
1201 agtaagaagt ctgagtccct gagaccacca cactgcaagg acacttgaag gtactcaggt
1261 ttcagagccc aagtcaggag gtcaagtgtg catgcaagag gtggcagggg acagatgtgc
1321 tgctgttccc aggccacctg cacagctgga tggtggaagc agttcactta aaggccatga
1381 gttactcggg aggctgaggc aggaggatca cttgagccta ttagttggag gctgcagtaa
1441 gctatgatca tgccactgca ctccagcctg ggtgacagag tgagaccccc actgtccctg
1501 gtctcttaaa agaaaaaaca aacaaacaaa ccaaaaaa
//