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TBX1 T-box transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 6899, updated on 19-Sep-2021

Summary

Official Symbol
TBX1provided by HGNC
Official Full Name
T-box transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:11592
See related
Ensembl:ENSG00000184058 MIM:602054
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22
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]
Expression
Biased expression in testis (RPKM 1.4), prostate (RPKM 1.1) and 13 other tissues See more
Orthologs
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Genomic context

See TBX1 in Genome Data Viewer
Location:
22q11.21
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19756703..19783593)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19744226..19771116)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene SEPT5-GP1BB readthrough Neighboring gene uncharacterized LOC105372861 Neighboring gene glycoprotein Ib platelet subunit beta Neighboring gene VISTA enhancer hs515 Neighboring gene G protein subunit beta 1 like Neighboring gene ribosomal protein L7a pseudogene 70 Neighboring gene retrotransposon Gag like 10

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
GeneReviews: Not available
Conotruncal heart malformations
MedGen: C1857586 OMIM: 217095 GeneReviews: Not available
Compare labs
DiGeorge Syndrome
MedGen: C0012236 OMIM: 188400 GeneReviews: 22q11.2 Deletion Syndrome
not available
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
GeneReviews: Not available
Shprintzen syndrome
MedGen: C0220704 OMIM: 192430 GeneReviews: 22q11.2 Deletion Syndrome
Compare labs
Tetralogy of Fallot
MedGen: C0039685 OMIM: 187500 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-03-22)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated 2012-03-22)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in anterior/posterior pattern specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in blood vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in blood vessel morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell population proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to fibroblast growth factor stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to retinoic acid ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cochlea morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in coronary artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in determination of left/right symmetry ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ear morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic cranial skeleton morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic viscerocranium morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in enamel mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in face morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inner ear morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lymph vessel development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mesenchymal cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mesoderm development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in middle ear morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in muscle cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in muscle organ development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in muscle organ morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in muscle tissue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of mesenchymal cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neural crest cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in odontogenesis of dentin-containing tooth ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in outer ear morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in parathyroid gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pattern specification process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pharyngeal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell population proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of epithelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of mesenchymal cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of tongue muscle cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of animal organ morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
PubMed 
involved_in retinoic acid receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in semicircular canal morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in social behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in soft palate development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in thymus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in thyroid gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in tongue morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in vagus nerve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
T-box transcription factor TBX1
Names
T-box 1 transcription factor C
Testis-specific T-box protein
brachyury

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009229.1 RefSeqGene

    Range
    5001..31891
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_226

mRNA and Protein(s)

  1. NM_001379200.1NP_001366129.1  T-box transcription factor TBX1 isoform D

    Status: REVIEWED

    Source sequence(s)
    AC000091
    Related
    ENSP00000497003.1, ENST00000649276.2
    Conserved Domains (1) summary
    cd20187
    Location:118306
    T-box_TBX1_10-like; DNA-binding domain of T-box transcription factor 1 and 10, and related T-box proteifactors
  2. NM_005992.1NP_005983.1  T-box transcription factor TBX1 isoform B

    See identical proteins and their annotated locations for NP_005983.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) contains an alternate exon 9 and an additional exon 10 compared to variant C. It encodes an isoform (B) with the same N-terminal 336 aa, but an unique C-terminus with respect to isoforms A and C.
    Source sequence(s)
    AF012131
    Consensus CDS
    CCDS13765.1
    UniProtKB/Swiss-Prot
    O43435
    UniProtKB/TrEMBL
    Q152R5
    Related
    ENSP00000352483.3, ENST00000359500.7
    Conserved Domains (1) summary
    pfam00907
    Location:112297
    T-box; T-box
  3. NM_080646.2NP_542377.1  T-box transcription factor TBX1 isoform A

    See identical proteins and their annotated locations for NP_542377.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) contains an alternate exon 9 compared to variant C, resulting in an isoform (A) with the same N-terminal 336 aa, but an unique C-terminus with respect to isoforms B and C.
    Source sequence(s)
    AF012130
    Consensus CDS
    CCDS13766.1
    UniProtKB/Swiss-Prot
    O43435
    Related
    ENSP00000331176.7, ENST00000329705.11
    Conserved Domains (1) summary
    cd00182
    Location:109299
    TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
  4. NM_080647.1NP_542378.1  T-box transcription factor TBX1 isoform C

    See identical proteins and their annotated locations for NP_542378.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) encodes the longest isoform (C) with the same N-terminal 336 aa, but an unique C-terminus with respect to isoforms A and B.
    Source sequence(s)
    AF373867
    Consensus CDS
    CCDS13767.1
    UniProtKB/Swiss-Prot
    O43435
    UniProtKB/TrEMBL
    D9ZGG0
    Related
    ENSP00000331791.4, ENST00000332710.8
    Conserved Domains (1) summary
    cd00182
    Location:109299
    TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    19756703..19783593
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724312.2XP_006724375.1  T-box transcription factor TBX1 isoform X2

    See identical proteins and their annotated locations for XP_006724375.1

    UniProtKB/Swiss-Prot
    O43435
    UniProtKB/TrEMBL
    D9ZGG0
    Conserved Domains (1) summary
    cd00182
    Location:109299
    TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
  2. XM_017028926.1XP_016884415.1  T-box transcription factor TBX1 isoform X2

    UniProtKB/Swiss-Prot
    O43435
    UniProtKB/TrEMBL
    D9ZGG0
    Conserved Domains (1) summary
    cd00182
    Location:109299
    TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...
  3. XM_017028925.1XP_016884414.1  T-box transcription factor TBX1 isoform X1

  4. XM_017028928.1XP_016884417.1  T-box transcription factor TBX1 isoform X4

  5. XM_017028927.1XP_016884416.1  T-box transcription factor TBX1 isoform X3

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