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TBX1

GENERAL INFORMATION

Gene name

 TBX1

Gene description

 T-box 1

Protein class

 Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Mixed
HPA (cell line):Cell line enhanced (K-562, TIME)
HPA (normal tissue):Tissue enhanced (skeletal muscle)

Protein evidence

 Evidence at protein level

ANTIBODY IHC RELIABILITY

Reliability score

 Pending cancer tissue analysis.

PROGNOSTIC SUMMARY
Prognostic marker in urothelial cancer (favourable).
Urothelial cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION

Pending cancer tissue analysis

STAINING SUMMARY

 

GENE INFORMATION

Gene name

 TBX1 (HGNC Symbol)

Synonyms

 CATCH22, VCF

Description

 T-box 1 (HGNC Symbol)

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]

Chromosome

 22

Cytoband

 q11.21

Chromosome location (bp)

 19756703 - 19783593

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000184058 (version 83.38)

Entrez gene

 6899

UniProt

 O43435 (UniProt - Evidence at protein level)

neXtProt

 NX_O43435

Antibodypedia

 TBX1 antibodies

PROTEIN BROWSER
TBX1-001
TBX1-002
TBX1-003
TBX1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
TBX1-001
ENSP00000352483
ENST00000359500
O43435 [Direct mapping]
T-box transcription factor TBX1
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
Transcription factors
   Immunoglobulin fold
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
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 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
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: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 from RNA polymerase II promoter]
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:2000027 [regulation of 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
TBX1-002
ENSP00000331176
ENST00000329705
O43435 [Direct mapping]
T-box transcription factor TBX1
Show all
Predicted intracellular proteins
Transcription factors
   Immunoglobulin fold
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
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 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
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: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 from RNA polymerase II promoter]
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:2000027 [regulation of 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
TBX1-003
ENSP00000331791
ENST00000332710
O43435 [Direct mapping]
T-box transcription factor TBX1
D9ZGG0 [Target identity:100%; Query identity:100%]
T-box 1
Show all
Predicted intracellular proteins
Transcription factors
   Immunoglobulin fold
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
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:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
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: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 from RNA polymerase II promoter]
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: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]
Show all
 495 aa
52.7 kDa 		No 0
TBX1-201
ENSP00000477982
ENST00000621939
O43435 [Direct mapping]
T-box transcription factor TBX1
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
Transcription factors
   Immunoglobulin fold
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
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 [transcription factor activity, sequence-specific DNA binding]
GO:0005634 [nucleus]
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: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 from RNA polymerase II promoter]
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:2000027 [regulation of 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

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.