NiceProt View of SWISS-PROT: O15119

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

General information about the entry
Entry name	TBX3_HUMAN
Primary accession number	O15119
Secondary accession number(s)	None
Entered in SWISS-PROT in	Release 38, July 1999
Sequence was last modified in	Release 38, July 1999
Annotations were last modified in	Release 38, July 1999
Name and orig in of the protein
Protein name	TBX3 PROTEIN [Fragment]
Synonym(s)	T-BOX PROTEIN 3
Gene name(s)	TBX3
From	Homo sapiens (Human)
Taxonomy	Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo.
References
[1] SEQUENCE FROM N.A. TISSUE=KIDNEY; MEDLINE; 97351519. [NCBI, ExPASy, Israel, Japan] Bamshad M., Lin R.C., Law D.J., Watkins W.S., Krakowiak P.A., Moore M.E., Franceschini P., Lala R., Holmes L.B., Gebuhr T.C., Schinzel A., Bruneau B.G., Seidman J.G., Seidman C.E., Jorde L.B.; "Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome."; Nat. Genet. 16:311-315(1997).
Comments
FUNCTION: PROBABLE TRANSCRIPTIONAL REGULATOR INVOLVED IN DEVELOPMENTAL PROCESSES. SUBCELLULAR LOCATION: NUCLEAR (POTENTIAL). DISEASE: DEFECTS IN TBX3 ARE THE CAUSE OF ULNAR-MAMMARY SYNDROME (UMS). THIS DISEASE IS CHARACTERIZED BY ULNAR RAY DEFECTS, OBESITY, HYPOGENITALISM, DELAYED PUBERTY, HYPOPLASIA OF NIPPLES AND APOCRINE GLANDS. 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 AF002228; AAC12947.1; -. [EMBL / GenBank / DDBJ] [CoDingSequence] MIM 601621; -. 181450; -. GeneCards TBX3. PROSITE PS01283; TBOX_1; 1. PS01264; TBOX_2; 1. PFAM PF00907; T-box; 1. BLOCKS O15119. DOMO O15119. PROTOMAP O15119. PRESAGE O15119. SWISS-2DPAGE GET REGION ON 2D PAGE.
Keywords
Transcription regulation; DNA-binding; Nuclear protein; Developmental protein.
Features
DNA_BIND 112 284 T-BOX. NON_TER 468 468 FT table viewer
Sequence information
Length: 468 AA [This is the length of the partial sequence] Molecular weight: 51770 Da [This is the Mw of the partial sequence] CRC64: 248A630FAACBB874 [This is a checksum on the sequence]
10 20 30 40 50 60 | | | | | | MSLSMRDPVI PGTSMAYHPF LPHRAPDFAM SAVLGHQPPF FPALTLPPNG AAALSLPGAL 70 80 90 100 110 120 | | | | | | AKPIMDQLVG AAETGIPFSS LGPQAHLRPL KTMEPEEEVE DDPKVHLEAK ELWDQFHKRG 130 140 150 160 170 180 | | | | | | TEMVITKSGR RMFPPFKVRC SGLDKKAKYI LLMDIIAADD CRYKFHNSRW MVAGKADPEM 190 200 210 220 230 240 | | | | | | PKRMYIHPDS PATGEQWMSK VVTFHKLKLT NNISDKHGFT ILNSMHKYQP RFHIVRANDI 250 260 270 280 290 300 | | | | | | LKLPYSTFRT YLFPETEFIA VTAYQNDKIT QLKIDNNPFA KGFRDTGNGR REKRKQLTLQ 310 320 330 340 350 360 | | | | | | SMRVFDERHK KENGTSDESS SEQAAFNCFA QASSPAASTV GTSNLKDLCP SEGESDAEAE 370 380 390 400 410 420 | | | | | | SKEEHGPEAC DAAKISTTTS EEPCRDKGSP AVKAHLFAAE RPRDSGRLDK ASPDSRHSPA 430 440 450 460 468 | | | | | TISSSTRGLG AEERRSPVRE GTAPAKVEEA RALPGKEAFA PLTVQTDA O15119 in FASTA format