Homo sapiens Gene: TBX1
Summary
InnateDB Gene IDBG-1419.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TBX1
Gene Name T-box 1
Synonyms CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS;
Species Homo sapiens
Ensembl Gene ENSG00000184058
Encoded Proteins
T-box 1
T-box 1
T-box 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:19756703-19783593
Strand Forward strand
Band q11.21
Transcripts
ENST00000359500 ENSP00000352483
ENST00000329705 ENSP00000331176
ENST00000332710 ENSP00000331791
ENST00000475303
ENST00000484336
ENST00000621939 ENSP00000477982
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0046983 protein dimerization activity
Biological Process
GO:0001525 angiogenesis
GO:0001568 blood vessel development
GO:0001708 cell fate specification
GO:0001755 neural crest cell migration
GO:0001934 positive regulation of protein phosphorylation
GO:0001945 lymph vessel development
GO:0001974 blood vessel remodeling
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0003007 heart morphogenesis
GO:0003148 outflow tract septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007368 determination of left/right symmetry
GO:0007389 pattern specification process
GO:0007498 mesoderm development
GO:0007507 heart development
GO:0007517 muscle organ development
GO:0007605 sensory perception of sound
GO:0008283 cell proliferation
GO:0008284 positive regulation of cell proliferation
GO:0009952 anterior/posterior pattern specification
GO:0021644 vagus nerve morphogenesis
GO:0030855 epithelial cell differentiation
GO:0030878 thyroid gland development
GO:0035176 social behavior
GO:0035909 aorta morphogenesis
GO:0042471 ear morphogenesis
GO:0042472 inner ear morphogenesis
GO:0042473 outer ear morphogenesis
GO:0042474 middle ear morphogenesis
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042693 muscle cell fate commitment
GO:0043410 positive regulation of MAPK cascade
GO:0043587 tongue morphogenesis
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0045596 negative regulation of cell differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048384 retinoic acid receptor signaling pathway
GO:0048514 blood vessel morphogenesis
GO:0048538 thymus development
GO:0048644 muscle organ morphogenesis
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048703 embryonic viscerocranium morphogenesis
GO:0048752 semicircular canal morphogenesis
GO:0048844 artery morphogenesis
GO:0050679 positive regulation of epithelial cell proliferation
GO:0060017 parathyroid gland development
GO:0060023 soft palate development
GO:0060037 pharyngeal system development
GO:0060325 face morphogenesis
GO:0060415 muscle tissue morphogenesis
GO:0060982 coronary artery morphogenesis
GO:0070166 enamel mineralization
GO:0071300 cellular response to retinoic acid
GO:0071600 otic vesicle morphogenesis
GO:0072513 positive regulation of secondary heart field cardioblast proliferation
GO:0090103 cochlea morphogenesis
GO:0097152 mesenchymal cell apoptotic process
GO:2000027 regulation of organ morphogenesis
GO:2001037 positive regulation of tongue muscle cell differentiation
GO:2001054 negative regulation of mesenchymal cell apoptotic process
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Cross-References
SwissProt
TrEMBL Q152R5
UniProt Splice Variant
Entrez Gene 6899
UniGene
RefSeq NM_005992 NM_080646 NM_080647 XM_005261269 XM_006724312
HUGO HGNC:11592
OMIM 602054
CCDS CCDS13765 CCDS13766 CCDS13767
HPRD
IMGT
EMBL CH471176 DQ650705 FJ515849
GenPept ABG25916 ACS13740 EAX03026
RNA Seq Atlas 6899