NiceProt View of SWISS-PROT: Q99593

[General] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

General information about the entry
Entry name	TBX5_HUMAN
Primary accession number	Q99593
Secondary accession number(s)	None
Entered in SWISS-PROT in	Release 35, November 1997
Sequence was last modified in	Release 35, November 1997
Annotations were last modified in	Release 35, November 1997
Name and orig in of the protein
Protein name	TBX5 PROTEIN
Synonym(s)	T-BOX PROTEIN 5
Gene name(s)	TBX5
From	Homo sapiens (Human)
Taxonomy	Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
References
[1] SEQUENCE FROM N.A. MEDLINE; 97141914. [NCBI, ExPASy, Israel, Japan] Li Q.Y., Newbury-Ecob R., Terrett J.A., Wilson D.I., Curtis A., Yi C.H., Bullen P.J., Strachan T., Robson S., Bonnet D., Young I.E., Raeburn J.A., Buckler A.J., Gebuhr T., Law D.J., Brook J.D.; "Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family."; Nat. Genet. 15:21-29(1997).
[2] VARIANT HOS GLN-234. MEDLINE; 97141915. [NCBI, ExPASy, Israel, Japan] 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.; "Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome."; Nat. Genet. 15:30-35(1997).
Comments
FUNCTION: PROBABLE TRANSCRIPTIONAL REGULATOR INVOLVED IN DEVELOPMENTAL PROCESSES. SUBCELLULAR LOCATION: NUCLEAR (POTENTIAL). DISEASE: DEFECTS IN TBX5 ARE THE CAUSE OF HOLT-ORAM SYNDROME (HOS), A DEVELOPMENTAL DISORDER AFFECTING THE HEART AND UPPER LIMBS. IT IS CHARACTERIZED BY THUMB ANOMALY AND ATRIAL SEPTAL DEFECTS. SIMILARITY: CONTAINS A T-BOX DOMAIN.
Copyright
This SWISS-PROT entry is copyright. It is produced through a collaboration between the Swiss Institute of Bioinformatics and the EMBL outstation - the European Bioinformatics Institute. There are no restrictions on its use by non-profit institutions as long as its content is in no way modified and this statement is not removed. Usage by and for commercial entities requires a license agreement (See http://www.isb-sib.ch/announce/ or send an email to license@isb-sib.ch).
Cross-references
EMBL Y09445; CAA70592.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence] HSSP P24781; 1XBR. [HSSP ENTRY / SWISS-3DIMAGE / PDB] MIM 601620; -. 142900; -. GeneCards TBX5. PRINTS PR00937; TBOX. PROSITE PS01283; TBOX_1; 1. PS01264; TBOX_2; 1. PFAM PF00907; T-box; 1. PRODOM [Domain structure / List of seq. sharing at least 1 domain] BLOCKS Q99593. DOMO Q99593. PROTOMAP Q99593. PRESAGE Q99593. SWISS-2DPAGE GET REGION ON 2D PAGE.
Keywords
Transcription regulation; DNA-binding; Nuclear protein; Developmental protein; Disease mutation.
Features
DNA_BIND 61 235 T-BOX. VARIANT 234 234 R -> Q (IN HOS). /FTId=VAR_007456. FT table viewer
Sequence information
Length: 513 AA Molecular weight: 57439 Da CRC64: C8A93CDC2D84554C [This is a checksum on the sequence]
10 20 30 40 50 60 | | | | | | MADADEALAG AHLWSLTQKT CLRFEPRARS GPPASPPGRP RSRLHPAGME GIKVFLHERE 70 80 90 100 110 120 | | | | | | LWLKFHEVTE MIITKAGRRM FPSYKVKVTG INPKTKYILL MDIVPADDHR YKFADNKWCV 130 140 150 160 170 180 | | | | | | TGKAEPAMAG RLYVHPDSPA TGAHWMRQLV SFQKLKLTNN HLDPFGHIIL NSMHKYQPRL 190 200 210 220 230 240 | | | | | | HIVKADENNG FGSKNTAFCT HVFPETAFIA VTSYQNHKIT QLKIENNPFA KGFRGSDDME 250 260 270 280 290 300 | | | | | | LHRMSRMQSK EYPVVPRSTV RQKVASNHSP FSSESRALST SSNLGSQYQC ENGVSGPSQD 310 320 330 340 350 360 | | | | | | LLPPPNPYPL PQEHSQIYHC TKRKEEECST TDHPYKKPYM ETSPSEEDSF YRSSYPQQQG 370 380 390 400 410 420 | | | | | | LGASYRTESA QRQACMYASS APPSEPVPSL EDISCNTWPS MPSYSSCTVT TVQPWTGYPT 430 440 450 460 470 480 | | | | | | STSPLTSPRG PWSLGWLAWQ PWLPTAGRGN VPSTRPPVAH QPVVSSVGPQ TGLQSPGTLQ 490 500 510 | | | PPEFLYSHGV QGLYPLISTT LCTELAWCRV ERQ Q99593 in FASTA format