Seroatlas · Human Serome Atlas

TBX1

T-box transcription factor TBX1

Also known as: CATCH22, TBX1_HUMAN, VCF

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O43435
Gene
TBX1
Ensembl
ENSG00000184058
Chromosome
22
Canonical length
398 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nuclear bodies,Cytoplasmic bodies

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

398 residues, UniProt reviewed canonical sequence.

>O43435|TBX1
     1  MHFSTVTRDM EAFTASSLSS LGAAGGFPGA ASPGADPYGP REPPPPPPRY DPCAAAAPGA
    61  PGPPPPPHAY PFAPAAGAAT SAAAEPEGPG ASCAAAAKAP VKKNAKVAGV SVQLEMKALW
   121  DEFNQLGTEM IVTKAGRRMF PTFQVKLFGM DPMADYMLLM DFVPVDDKRY RYAFHSSSWL
   181  VAGKADPATP GRVHYHPDSP AKGAQWMKQI VSFDKLKLTN NLLDDNGHII LNSMHRYQPR
   241  FHVVYVDPRK DSEKYAEENF KTFVFEETRF TAVTAYQNHR ITQLKIASNP FAKGFRDCDP
   301  EDWPRNHRPG ALPLMSAFAR SRNPVASPTQ PSGTEKGGHV LKDKEVKAET SRNTPEREVE
   361  LLRDAGGCVN LGLPCPAECQ PFNTQGLVAG RTAGDRLC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.49
Highest tissue expression
77 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 77 nTPM
  • tongue: 62 nTPM
  • testis: 17 nTPM
  • parathyroid gland: 13 nTPM
  • thyroid gland: 12 nTPM
  • skin: 11 nTPM

Single-cell type

  • late spermatids: 440 nCPM
  • lymphatic endothelial cells: 348 nCPM
  • early spermatids: 279 nCPM
  • respiratory ionocytes: 46 nCPM
  • epicardial cells: 32 nCPM
  • respiratory basal cells: 32 nCPM

Immune cell

  • eosinophil: 0.6 nTPM
  • basophil: 0.2 nTPM
  • classical monocyte: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • white matter: 5.4 nTPM
  • cerebral cortex: 5.3 nTPM
  • thalamus: 5.3 nTPM
  • choroid plexus: 4.9 nTPM
  • basal ganglia: 4.8 nTPM
  • cerebellum: 4.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBX1.

Disease | AllUniProt

Conditions TBX1 is implicated in, by any mechanism.

Disease | GeneticClinVar

61 pathogenic / likely-pathogenic of 1,188 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • DiGeorge syndrome
  • Velocardiofacial syndrome
  • TBX1-related disorder
  • Conotruncal anomaly face syndrome
  • Tetralogy of Fallot

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.43
gnomAD pLI
0.84
gnomAD missense Z
0.74
DepMap mean gene effect
-0.07
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TBX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TBX1 as an antibody target. Whether an autoantibody or antibody against TBX1 could matter depends on whether native TBX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TBX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TBX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TBX1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...