TAF3 Gene - TATA-Box Binding Protein Associated Factor 3
A core component of the TFIID complex involved in transcription initiation and chromatin regulation.
Gene Information Card
| Symbol | TAF3 |
|---|---|
| Full Name | TATA-box binding protein associated factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p14 |
| NCBI Gene ID | 6888 ncbi.nlm.nih.gov/gene/6888 |
| Ensembl ID | ENSG00000165632 |
| UniProt ID | Q5VWG9 |
| OMIM ID | 606576 |
| HGNC ID | 11542 |
| Aliases | TAFII-140, TAFII140, TAFII-100, TAFII100 |
Description
TAF3 (TATA-box binding protein associated factor 3) encodes a subunit of the transcription factor IID (TFIID) complex. TFIID is a multimeric complex that plays a central role in transcription initiation by RNA polymerase II. TAF3 specifically interacts with the TATA-binding protein (TBP) and other TAFs to form the core TFIID complex. It also contains a plant homeodomain (PHD) finger that recognizes histone H3 trimethylated at lysine 4 (H3K4me3), linking transcription initiation to chromatin state. TAF3 is essential for embryonic development and is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | TAF3 overexpression may alter TFIID assembly and transcription of oncogenes | PMID: 23431136 |
| Colorectal cancer | TAF3 mutations found in tumor samples; potential role in Wnt signaling | COSMIC ID: TAF3 |
| Intellectual disability | De novo missense variants in TAF3 associated with neurodevelopmental phenotypes | ClinVar: TAF3 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 7.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| K562 | 7.5 | Leukemia cell line |
| MCF7 | 11.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% | p.Arg412Cys; potential loss of H3K4me3 binding |
| c.567_568del | Frameshift | 0.01% | p.Glu189Aspfs*12; loss of function |
| c.2101G>A | Nonsense | 0.005% | p.Trp701*; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein, impairing TFIID assembly and transcription.
Gain of Function (GOF)
Not well documented; some missense variants may enhance TFIID stability.
Dominant Negative (DN)
Missense mutations in the PHD finger may disrupt H3K4me3 recognition and interfere with wild-type TAF3 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Transcription initiation by RNA polymerase II (Reactome: R-HSA-75953)
• TFIID complex assembly (Reactome: R-HSA-167162)
Protein Summary
TAF3 is a 140 kDa protein that contains an N-terminal region interacting with TBP, a central domain for TAF-TAF interactions, and a C-terminal PHD finger that binds H3K4me3. It is a stable component of the TFIID complex and is required for transcription of a subset of genes, particularly those involved in development and cell cycle regulation. Post-translational modifications include phosphorylation and acetylation, which modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF3 Knockout HEK293 Cell Line | EDJ-KQ3124 | Human | 83860 | Details Get a Quote |
| TAF3 Knockout HeLa Cell Line | EDJ-KQ23105 | Human | 83860 | Details Get a Quote |
| TAF3 Knockout A-549 Cell Line | EDJ-KQ24486 | Human | 83860 | Details Get a Quote |
| TAF3 Knockout HCT 116 Cell Line | EDJ-KQ24487 | Human | 83860 | Details Get a Quote |
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