TBX1

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Description

T-box transcription factor 1

Tissue specificity

Tissue enhanced (skeletal muscle, tongue)

Subcell location

Nuclear bodies, Cytoplasmic bodies

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Transcription factors

Chromosome

22 (19756703 - 19783593)

Ensembl ID

ENSG00000184058  (ver. 103.38)

Orthologs

Mouse Tbx1: ENSMUSG00000009097

UniProt

O43435

neXtProt

NX_O43435

Human splice variants
Mouse splice variants

Protein structure