InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBX1

Summary

InnateDB Protein

IDBP-1423.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TBX1

Protein Name

T-box 1

Synonyms

CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS;

Species

Homo sapiens

Ensembl Protein

ENSP00000331176

InnateDB Gene

IDBG-1419 (TBX1)

Protein Structure

UniProt Annotation

Function

Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00201}.

Disease Associations

Note=Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.DiGeorge syndrome (DGS) [MIM:188400]: A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. {ECO:0000269PubMed:14585638}. Note=The disease is caused by mutations affecting the gene represented in this entry.Velocardiofacial syndrome (VCFS) [MIM:192430]: A syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders. {ECO:0000269PubMed:14585638, ECO:0000269PubMed:17273972}. Note=The disease is caused by mutations affecting the gene represented in this entry.Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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: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: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: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