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T-box transcription factor TBX1; T-box protein 1; testis-specific T-box protein (TBX1)
Function:
- probable transcriptional regulator
- role in developmental processes
- required for normal development of the pharyngeal arch arteries (putative)
Structure: contains 1 T-box DNA-binding domain
Compartment: nucleus (putative)
Alternative splicing: named isoforms=3; A, B, C
Pathology:
- defects in TBX1 are a cause of
a) DiGeorge syndrome
b) velocardiofacial syndrome
c) conotruncal heart malformation
General
testis-specific protein
T-box (TBX) protein
Properties
SIZE: entity length = 398 aa
MW = 43 kD
COMPARTMENT: cell nucleus
MOTIF: proline-rich region
SITE: 43-48
MOTIF: proline residue (SEVERAL)
alanine-rich region {54-57}
MOTIF: alanine residue (SEVERAL)
proline-rich region
SITE: 61-67
MOTIF: proline residue (SEVERAL)
alanine-rich region {94-99}
MOTIF: alanine residue (SEVERAL)
T-box domain
SITE: 119-297
Database Correlations
OMIM correlations
MORBIDMAP 602054
UniProt O43435
Pfam PF00907
Entrez Gene 6899
Kegg hsa:6899
References
- UniProt :accession O43435
- Entrez Gene :accession 6899