AC T04346
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ID T04346
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DT 22.02.2001 (created); rio.
DT 20.11.2007 (updated); man.
CO Copyright (C), QIAGEN.
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FA TBX5-S
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SY T-box protein 5; TBX5(short isoform).
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G004032 TBX5; HGNC: TBX5.
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CL C0044; T-box; 6.5.4.0.4.2.
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SZ 349 AA; 39.2 kDa (cDNA) (calc.).
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SQ MADADEGFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFTQQGMEGIKVFLHE
SQ RELWLKFHEVGTEMIITKAGRRMFPSYKVKVTGLNPKTKYILLMDIVPADDHRYKFADNK
SQ WSVTGKAEPAMPGRLYVHPDSPATGAHWMRQLVSFQKLKLTNNHLDPFGHIILNSMHKYQ
SQ PRLHIVKADENNGFGSKNTAFCTHVFPETAFIAVTSYQNHKITQLKIENNPFAKGFRGSD
SQ DMELHRMSRMQSKEYPVVPRSTVRQKVASNHSPFSSESRALSTSSNLGSQYQCENGVSGP
SQ SQDLLPPPNPYPLPQEHSQIYHCTKRKGECDHPWSICFLSYLFLSLGWG
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SC translated from EMBL #U80987
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FT 53 243 
SM00425; tbox5.
FT 55 239 
PF00907; T-box.
FT 56 238 
T domain [1].
FT 58 238 
PS50252; TBOX_3.
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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];
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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];
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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.
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DR TRANSPATH: MO000028204.
DR EMBL: U80987;
DR UniProtKB: Q99593-2;
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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).
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//