GENERAL INFORMATIONi
Gene namei TBX1
Synonyms CATCH22, VCF
Gene descriptioni T-box transcription factor 1
Protein classi Disease related genes
Human disease related genes
Transcription factors
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome 22
Cytoband q11.21
Chromosome location (bp) 19756703 - 19783593
Number of transcriptsi 6
Ensembl ENSG00000184058 (version 109)
Entrez gene 6899
HGNC HGNC:11592
UniProt O43435 (UniProt - Evidence at protein level)
neXtProt NX_O43435
GeneCards TBX1
Antibodypedia TBX1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (By similarity). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). Required for hair follicle stem cell self-renewal (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence 1, 2. show less
Molecular function (UniProt)i Developmental protein, DNA-binding
Biological process (UniProt)i Transcription, Transcription regulation
Gene summary (Entrez)i 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] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
TBX1-201
ENSP00000331176
ENST00000329705
O43435
[Direct mapping] T-box transcription factor TBX1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Immunoglobulin fold
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the circulatory system
   Other congenital disorders
   Chromosomal abnormalities
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
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:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of DNA-templated transcription]
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 DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
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]
Show all
 398 aa
43.1 kDa 		No 0
TBX1-202
ENSP00000331791
ENST00000332710
O43435
[Direct mapping] T-box transcription factor TBX1
Show all
D9ZGG0
[Target identity:100%; Query identity:100%] T-box 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Immunoglobulin fold
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the circulatory system
   Other congenital disorders
   Chromosomal abnormalities
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
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:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of DNA-templated transcription]
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 DNA-templated transcription]
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]
Show all
 495 aa
52.7 kDa 		No 0
TBX1-203
ENSP00000352483
ENST00000359500
O43435
[Direct mapping] T-box transcription factor TBX1
Show all
Q152R5
[Target identity:100%; Query identity:100%] T-box 1; T-box 1, isoform CRA_c; T-box transcription factor TBX1 2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Immunoglobulin fold
Disease related genes
Human disease related genes
   Congenital malformations
   Congenital malformations of the circulatory system
   Other congenital disorders
   Chromosomal abnormalities
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
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:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of DNA-templated transcription]
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 DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
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]
Show all
 372 aa
40.4 kDa 		No 0
TBX1-206
ENSP00000497003
ENST00000649276
A0A3B3IS18
[Direct mapping] T-box transcription factor TBX1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the circulatory system
   Other congenital disorders
   Chromosomal abnormalities
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005634 [nucleus]
GO:0006355 [regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
Show all
 504 aa
53.5 kDa 		No 0
TBX1-207
ENSP00000505472
ENST00000680333
A0A7P0Z4A3
[Direct mapping] T-box transcription factor TBX1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the circulatory system
   Other congenital disorders
   Chromosomal abnormalities
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005634 [nucleus]
GO:0006355 [regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
Show all
 239 aa
25.4 kDa 		No 0
TBX1-208
ENSP00000514909
ENST00000700274
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital malformations
   Congenital malformations of the circulatory system
   Other congenital disorders
   Chromosomal abnormalities
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [DNA-binding transcription factor activity]
GO:0005634 [nucleus]
GO:0006355 [regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
Show all
 187 aa
21.6 kDa 		No 0

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