GTF2H3
General transcription factor IIH subunit 3
Also known as: BTF2, P34, TF2H3_HUMAN, TFIIH
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13889
- Gene
- GTF2H3
- Ensembl
- ENSG00000111358
- Chromosome
- 12
- Canonical length
- 308 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]
Canonical amino-acid sequenceUniProt
308 residues, UniProt reviewed canonical sequence.
>Q13889|GTF2H3
1 MVSDEDELNL LVIVVDANPI WWGKQALKES QFTLSKCIDA VMVLGNSHLF MNRSNKLAVI
61 ASHIQESRFL YPGKNGRLGD FFGDPGNPPE FNPSGSKDGK YELLTSANEV IVEEIKDLMT
121 KSDIKGQHTE TLLAGSLAKA LCYIHRMNKE VKDNQEMKSR ILVIKAAEDS ALQYMNFMNV
181 IFAAQKQNIL IDACVLDSDS GLLQQACDIT GGLYLKVPQM PSLLQYLLWV FLPDQDQRSQ
241 LILPPPVHVD YRAACFCHRN LIEIGYVCSV CLSIFCNFSP ICTTCETAFK ISLPPVLKAK
301 KKKLKVSALocalizationUniProt · AlphaFold · HPA
Whether an antibody against GTF2H3 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)
- 0.33
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- lymph node: 16 nTPM
- rectum: 15 nTPM
- tonsil: 15 nTPM
- thymus: 15 nTPM
- cerebral cortex: 15 nTPM
- breast: 15 nTPM
Single-cell type
- erythrocyte progenitors: 68 nCPM
- early primary spermatocytes: 49 nCPM
- cytotrophoblasts: 47 nCPM
- differentiating spermatogonia: 42 nCPM
- megakaryocyte-erythroid progenitors: 39 nCPM
- megakaryocyte progenitors: 39 nCPM
Immune cell
- basophil: 12 nTPM
- NK-cell: 11 nTPM
- naive CD4 T-cell: 8.7 nTPM
- memory CD8 T-cell: 8.1 nTPM
- naive CD8 T-cell: 8 nTPM
- gdT-cell: 7.6 nTPM
Brain region
- white matter: 18 nTPM
- pons: 17 nTPM
- medulla oblongata: 17 nTPM
- thalamus: 17 nTPM
- cerebral cortex: 16 nTPM
- basal ganglia: 16 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)
- 1.04
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.65
- DepMap mean gene effect
- -0.89
- DepMap dependency class
- common
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
- DNA repair
- nucleotide-excision repair
- regulation of DNA-templated transcription
- transcription by RNA polymerase II
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- von Willebrand factor A-like domain superfamily
- TFIIH subunit Tfb4/GTF2H3
- Transcription factor Tfb4
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GTF2H3 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 GTF2H3 as an antibody target. Whether an autoantibody or antibody against GTF2H3 could matter depends on whether native GTF2H3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GTF2H3 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 GTF2H3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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