TAF10 Gene - TATA-Box Binding Protein Associated Factor 10
Essential component of the transcription initiation complex TFIID and other SAGA complexes
Gene Information Card
| Symbol | TAF10 |
|---|---|
| Full Name | TATA-box binding protein associated factor 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 6881 ncbi.nlm.nih.gov/gene/6881 |
| Ensembl ID | ENSG00000166337 |
| UniProt ID | Q12962 |
| OMIM ID | 600475 |
| HGNC ID | 11543 |
| Aliases | TAF2A, TAFII30, TAFII-30, TAF10 |
Description
TAF10 (TATA-box binding protein associated factor 10) encodes a subunit of the transcription factor IID (TFIID) complex, which is essential for RNA polymerase II-mediated transcription initiation. TAF10 is also a component of the SAGA (Spt-Ada-Gcn5-acetyltransferase) and ATAC (Ada-Two-A-containing) histone acetyltransferase complexes. It directly interacts with TATA-binding protein (TBP) and other TAFs to facilitate promoter recognition and transcription activation. TAF10 is ubiquitously expressed and plays critical roles in cell cycle regulation, development, and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Biallelic loss-of-function mutations in TAF10 impair TFIID assembly and transcription of genes required for neural development | PMID: 32693028 |
| Colorectal cancer | TAF10 overexpression correlates with poor prognosis; promotes cell proliferation via transcriptional activation of MYC targets | PMID: 31406129 |
| Hepatocellular carcinoma | TAF10 upregulation enhances Wnt/β-catenin signaling and tumor growth | PMID: 30356099 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 38.5 | High |
| Lymph node | 32.1 | High |
| Brain cortex | 25.3 | Medium |
| Liver | 22.8 | Medium |
| Heart | 18.6 | Medium |
| Lung | 15.2 | Medium |
| Pancreas | 12.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 35.2 | Embryonic kidney; high expression |
| HeLa | 30.8 | Cervical carcinoma; high expression |
| K562 | 28.1 | Leukemia; medium expression |
| HepG2 | 25.6 | Hepatocellular carcinoma; medium expression |
| A549 | 22.3 | Lung carcinoma; medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Impaired TBP binding; associated with neurodevelopmental disorder |
| c.424C>T (p.Arg142*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.523_524del (p.Leu175fs) | Frameshift | <0.01% | Frameshift; loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift, start loss) cause neurodevelopmental disorder with hypotonia and brain abnormalities.
Gain of Function (GOF)
Not reported; TAF10 overexpression in cancers is likely due to transcriptional dysregulation rather than activating mutations.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg96Gln) may act as dominant-negative by disrupting TFIID complex assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Transcription initiation by RNA polymerase II (Reactome R-HSA-75955)
• TFIID assembly (Reactome R-HSA-167162)
• Chromatin modifying enzymes (Reactome R-HSA-3247502)
• Gene expression (Transcription) (KEGG hsa03022)
Protein Summary
TAF10 is a 218-amino-acid protein (24.8 kDa) that contains a histone-fold domain (HFD) mediating heterodimerization with TAF3 or TAF8. It is a core component of TFIID, SAGA, and ATAC complexes. The protein directly binds TBP and stabilizes the TFIID complex on promoter DNA. TAF10 is essential for embryonic development; knockout in mice is lethal. Post-translational modifications include acetylation and phosphorylation, which regulate its stability and complex incorporation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
