Entity Details

Primary name TBX1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43435
EntryNameTBX1_HUMAN
FullNameT-box transcription factor TBX1
TaxID9606
Evidenceevidence at protein level
Length398
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesTBX1

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
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:0003677 DNA binding
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
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 population proliferation
GO:0008284 positive regulation of cell population 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:0042803 protein homodimerization activity
GO:0043410 positive regulation of MAPK cascade
GO:0043565 sequence-specific DNA binding
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 by RNA polymerase II
GO:0046983 protein dimerization activity
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:1990837 sequence-specific double-stranded DNA binding
GO:2000027 regulation of animal organ morphogenesis
GO:2001037 positive regulation of tongue muscle cell differentiation
GO:2001054 negative regulation of mesenchymal cell apoptotic process

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001699 Transcription factor, T-boxFamilyFamily
IPR008967 p53-like transcription factor, DNA-bindingFamilyHomologous superfamily
IPR018186 Transcription factor, T-box, conserved siteSiteConserved site
IPR036960 T-box superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
217095 OMIMConotruncal heart malformations (CTHM)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. The disease is caused by variants affecting the gene represented in this entry.
188400 OMIMDiGeorge syndrome (DGS)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. The disease is caused by variants affecting the gene represented in this entry.
192430 OMIMVelocardiofacial syndrome (VCFS)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions