Version 5.4
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
IDBP-1421
T-box 1
IDBP-1423
T-box 1
IDBP-1425
T-box 1
IDBP-808004
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
ENSMUSG00000009097
View Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.173984 Hs.618637
RefSeq NM_005992 NM_080646 NM_080647 XM_005261269 XM_006724312
HUGO
OMIM
CCDS CCDS13765 CCDS13766 CCDS13767
HPRD 09069
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca