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


AC T04345 XX ID T04345 XX DT 22.02.2001 (created); rio. DT 20.11.2007 (updated); man. CO Copyright (C), QIAGEN. XX FA TBX5-L XX SY T-box protein 5; TBX5 (long isoform). XX OS human, Homo sapiens OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates XX GE G004032 TBX5; HGNC: TBX5. XX CL C0044; T-box; 6.5.4.0.4.1. XX SZ 518 AA; 57.7 kDa (cDNA) (calc.). XX SQ MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHE SQ RELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNK SQ WSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQ SQ PRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQLKIENNPFAKGFRGSD SQ DMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGP SQ SQDLLPPPNPYPLPQEHSQIYHCTKRKEEECSTTDHPYKKPYMETSPSEEDSFYRSSYPQ SQ QQGLGASYRTESAQRQACMYASSAPPSEPVPSLEDISCNTWPSMPSYSSCTVTTVQPMDR SQ LPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQTSVAHQPVVRQCGPQTGLQSPG SQ TLQPPEFLYSHGVPRTLSPHQYHSVHGVGMVPEWSDNS XX SC translated from EMBL #U89353 XX FT 53 243 SM00425; tbox5. FT 55 239 PF00907; T-box. FT 56 238 T domain [1]. FT 58 238 PS50252; TBOX_3. XX SF different DNA-interactions in heart and limb: mutations near the N-terminal end of the T domain (interaction with major groove) produce cardiac malformations whereas amino acid alterations near the C-terminal end of the T domain (interaction with minor groove) produce severe limb abnormalities [2]; XX FF mutations cause Holt-Oram syndrome (HOS) which results in skeletal and cardiac abnormalities [1]; FF critical for limb and heart development especially cardiac septation and chamber specification [1]; XX IN T04323 CSX; human, Homo sapiens. XX MX M08900 V$TBX2RELATED_Q6. MX M01019 V$TBX5_01. MX M01020 V$TBX5_02. MX M03856 V$TBX5_Q2. MX M01044 V$TBX5_Q5. XX BS R15821. BS R15822. BS R15823. BS R15824. BS R15825. BS R15826. BS R15835. BS R15836. BS R15769. BS R15837. BS R15827. BS R15830. BS R15969. XX DR TRANSPATH: MO000028203. DR EMBL: U89353; DR UniProtKB: Q99593-1; XX RN [1]; RE0015789. RX PUBMED: 8988165. RA 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., Seidman C. E. RT Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome RL Nat. Genet. 15:30-35 (1997). RN [2]; RE0015790. RX PUBMED: 10077612. RA 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., Mueller C. W., Seidman J. G., Seidman C. E. RT Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations RL Proc. Natl. Acad. Sci. USA 96:2919-2924 (1999). XX //