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TRANSFAC FACTOR TABLE, Release 2017.2 - public - 2017-06-30, (C) QIAGEN


AC T04352 XX ID T04352 XX DT 22.02.2001 (created); rio. DT 20.11.2007 (updated); man. CO Copyright (C), QIAGEN. XX FA TBX1A XX SY T-box protein 1. XX OS human, Homo sapiens OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates XX GE G014434 TBX1; HGNC: TBX1. XX CL C0044; T-box; 6.5.3.0.1.1. XX SZ 398 AA; 43.1 kDa (cDNA) (calc.). XX SQ MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGA SQ PGPPPPPHAYPFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALW SQ DEFNQLGTEMIVTKAGRRMFPTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWL SQ VAGKADPATPGRVHYHPDSPAKGAQWMKQIVSFDKLKLTNNLLDDNGHIILNSMHRYQPR SQ FHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHRITQLKIASNPFAKGFRDCDP SQ EDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAETSRNTPEREVE SQ LLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC XX SC translated from EMBL #AF012130 XX FT 109 302 SM00425; tbox5. FT 111 298 PF00907; T-box. FT 114 297 PS50252; TBOX_3. FT 119 302 T domain [1]. XX SF 98% amino acid identity over 233 amino acids to murine Tbx1 [1]; XX CP (fetus 18-24 weeks:) lung, low in kidney, liver and brain, (adult:) testis, skeletal muscle [1]. XX FF possible candidate for DiGeorge syndrome [1]; XX DR TRANSPATH: MO000028210. DR EMBL: AF012130; DR UniProtKB: O43435-1; XX RN [1]; RE0015794. RX PUBMED: 9268629. RA Chieffo C., Garvey N., Gong W., Roe B., Zhang G., Silver L., Emanuel B. S., Budarf M. L. RT Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene RL Genomics 43:267-277 (1997). XX //