TBX10
T-box transcription factor TBX10
Also known as: TBX10_HUMAN, TBX13, TBX7
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75333
- Gene
- TBX10
- Ensembl
- ENSG00000167800
- Chromosome
- 11
- Canonical length
- 385 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]
Canonical amino-acid sequenceUniProt
385 residues, UniProt reviewed canonical sequence.
>O75333|TBX10
1 MAAFLSAGLG ILAPSETYPL PTTSSGWEPR LGSPFPSGPC TSSTGAQAVA EPTGQGPKNP
61 RVSRVTVQLE MKPLWEEFNQ LGTEMIVTKA GRRMFPPFQV KILGMDSLAD YALLMDFIPL
121 DDKRYRYAFH SSAWLVAGKA DPATPGRVHF HPDSPAKGAQ WMRQIVSFDK LKLTNNLLDD
181 NGHIILNSMH RYQPRFHVVF VDPRKDSERY AQENFKSFIF TETQFTAVTA YQNHRITQLK
241 IASNPFAKGF RESDLDSWPV APRPLLSVPA RSHSSLSPCV LKGATDREKD PNKASASTSK
301 TPAWLHHQLL PPPEVLLAPA TYRPVTYQSL YSGAPSHLGI PRTRPAPYPL PNIRADRDQG
361 GLPLPAGLGL LSPTVVCLGP GQDSQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TBX10 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)
- 0.5
- Highest tissue expression
- 7.9 nTPM
Expression across tissuesHPA
Tissue
- small intestine: 7.9 nTPM
- colon: 6.8 nTPM
- rectum: 6.5 nTPM
- duodenum: 4.8 nTPM
- liver: 0.6 nTPM
- salivary gland: 0.4 nTPM
Single-cell type
- goblet cells: 138 nCPM
- enterocytes: 41 nCPM
- tuft cells: 12 nCPM
- colonocytes: 6.1 nCPM
- hepatocytes: 3 nCPM
- cholangiocytes: 2.7 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebellum: 0.8 nTPM
- cerebral cortex: 0.7 nTPM
- pons: 0.7 nTPM
- white matter: 0.7 nTPM
- medulla oblongata: 0.5 nTPM
- spinal cord: 0.5 nTPM
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)
- 1.36
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.07
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anatomical structure morphogenesis
- cell fate specification
- positive regulation of DNA-templated transcription
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TBX10 as an antibody target. Whether an autoantibody or antibody against TBX10 could matter depends on whether native TBX10 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TBX10 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 TBX10 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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