TAF1: TATA-Box Binding Protein Associated Factor 1
A key component of the TFIID complex regulating transcription initiation and implicated in X-linked dystonia-parkinsonism and cancer.
Gene Information Card
| Symbol | TAF1 |
|---|---|
| Full Name | TATA-box binding protein associated factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 6872 ncbi.nlm.nih.gov/gene/6872 |
| Ensembl ID | ENSG00000165678 |
| UniProt ID | P21675 |
| OMIM ID | 313650 |
| HGNC ID | 11535 |
| Aliases | BA2R, CCG1, CCGS, DYT3, KAT4, N-TAF1, NSCL2, TAF2A, TAFII250 |
Description
TAF1 encodes the largest subunit of the transcription factor IID (TFIID) complex, which is essential for RNA polymerase II-mediated transcription initiation. TAF1 functions as a scaffold for complex assembly and possesses intrinsic histone acetyltransferase (HAT) activity, regulating chromatin accessibility. It is involved in cell cycle control, development, and neuronal function. Mutations in TAF1 are associated with X-linked dystonia-parkinsonism (XDP/DYT3) and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked dystonia-parkinsonism (XDP/DYT3) | Intronic SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1 reduces expression, leading to neuronal dysfunction. | OMIM #314250; ClinVar; PMID: 17668388 |
| Intellectual disability, X-linked 33 (MRX33) | Missense and frameshift mutations in TAF1 impair TFIID function, affecting neuronal gene expression. | OMIM #300966; ClinVar; PMID: 25865492 |
| Breast cancer | TAF1 overexpression and amplification contribute to oncogenic transcription programs. | COSMIC; PMID: 21798893 |
| Prostate cancer | TAF1 mutations and altered expression linked to androgen receptor signaling. | COSMIC; PMID: 23345460 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Brain (cerebral cortex) | 32.1 | High |
| Heart | 25.6 | Medium |
| Liver | 18.4 | Medium |
| Lung | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.7 | Cervical cancer cell line |
| K562 | 28.4 | Leukemia cell line |
| HepG2 | 22.1 | Liver cancer cell line |
| A549 | 19.8 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| SVA retrotransposon insertion (intron 32) | Structural variant | ~100% in XDP patients | Reduced TAF1 expression; disease-causing |
| c.1915C>T (p.Arg639Trp) | Missense | Rare | Loss of TFIID function; associated with MRX33 |
| c.3760G>A (p.Gly1254Arg) | Missense | Rare | Impaired HAT activity; linked to XDP |
| Amplification | Copy number gain | ~5% in breast cancer | Increased TAF1 expression; oncogenic |
Mutation functional classification
Loss of Function (LOF)
SVA insertion and certain missense mutations reduce TAF1 expression or impair TFIID assembly, leading to transcriptional dysregulation.
Gain of Function (GOF)
Gene amplification in cancers leads to overexpression, potentially enhancing oncogenic transcription programs.
Dominant Negative (DN)
Some missense mutations may produce a defective TAF1 protein that interferes with wild-type TFIID function.
View complete mutation data：
Gene Ontology (GO)
| • transcription initiation at RNA polymerase II promoter | • histone acetyltransferase activity |
| • chromatin binding | • TFIID complex |
| • nucleus | • protein kinase activity |
Pathways
• RNA polymerase II transcription initiation
• Chromatin remodeling
• Cell cycle regulation
Protein Summary
TAF1 is a 250 kDa protein that serves as the core scaffold of the TFIID complex. It contains a histone acetyltransferase domain, multiple TBP-binding regions, and a kinase domain. The protein interacts with TBP and other TAFs to facilitate promoter recognition and transcription initiation. Its HAT activity acetylates histones H3 and H4, promoting open chromatin. TAF1 also autoregulates its own expression through a negative feedback loop.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF11 Knockout HEK293 Cell Line | EDJ-KQ2989 | Human | 6882 | Details Get a Quote |
| TAF15 Knockout HEK293 Cell Line | EDJ-KQ6177 | Human | 8148 | Details Get a Quote |
| TAF1L Knockout HEK293 Cell Line | EDJ-KQ9412 | Human | 138474 | Details Get a Quote |
| TAF11L4 Knockout HEK293 Cell Line | EDJ-KQ14811 | Human | 391746 | Details Get a Quote |
| TAF11L9 Knockout HEK293 Cell Line | EDJ-KQ14821 | Human | 112488745 | Details Get a Quote |
| TAF11L14 Knockout HEK293 Cell Line | EDJ-KQ14827 | Human | 112488740 | Details Get a Quote |
| TAF1D Knockout HEK293 Cell Line | EDJ-KQ15590 | Human | 79101 | Details Get a Quote |
| TAF11L2 Knockout HEK293 Cell Line | EDJ-KQ15592 | Human | 391742 | Details Get a Quote |
| TAF11L3 Knockout HEK293 Cell Line | EDJ-KQ15593 | Human | 646103 | Details Get a Quote |
| TAF11L5 Knockout HEK293 Cell Line | EDJ-KQ15595 | Human | 646066 | Details Get a Quote |
| TAF11L6 Knockout HEK293 Cell Line | EDJ-KQ15596 | Human | 391747 | Details Get a Quote |
| TAF11L7 Knockout HEK293 Cell Line | EDJ-KQ15598 | Human | 112488736 | Details Get a Quote |
| TAF11L8 Knockout HEK293 Cell Line | EDJ-KQ15599 | Human | 112488737 | Details Get a Quote |
| TAF11L10 Knockout HEK293 Cell Line | EDJ-KQ15601 | Human | 112488738 | Details Get a Quote |
| TAF11L11 Knockout HEK293 Cell Line | EDJ-KQ15602 | Human | 112488746 | Details Get a Quote |
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