TAF5: TATA-Box Binding Protein Associated Factor 5
A core component of the TFIID complex, essential for RNA polymerase II transcription initiation and implicated in developmental disorders and cancer.
Gene Information Card
| Symbol | TAF5 |
|---|---|
| Full Name | TATA-box binding protein associated factor 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.32 |
| NCBI Gene ID | 6877 ncbi.nlm.nih.gov/gene/6877 |
| Ensembl ID | ENSG00000148835 |
| UniProt ID | Q15542 |
| OMIM ID | 601787 |
| HGNC ID | 11542 |
| Aliases | TAFII100, TAF2D, TAF(II)100 |
Description
TAF5 encodes a protein that is one of several TATA-binding protein (TBP)-associated factors (TAFs) that together with TBP constitute the TFIID transcription initiation complex. TFIID is required for accurate and regulated transcription of most RNA polymerase II-dependent genes. TAF5 is essential for the assembly and stability of the TFIID complex and plays a role in promoter recognition and transcription activation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Developmental disorder with intellectual disability and dysmorphic features | Loss-of-function mutations in TAF5 disrupt TFIID assembly, impairing transcription of genes critical for neurodevelopment. | ClinVar, OMIM |
| Colorectal cancer | TAF5 overexpression or amplification may promote oncogenic transcription programs. | COSMIC, NCBI |
| Breast cancer | Altered TAF5 expression levels have been observed in tumor samples, potentially affecting cell proliferation. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain (cerebellum) | 18.2 | Medium |
| Heart | 15.1 | Medium |
| Liver | 12.8 | Medium |
| Lung | 10.3 | Medium |
| Kidney | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | Embryonic kidney cells; high expression |
| HeLa | 19.8 | Cervical cancer cells; moderate expression |
| K562 | 15.6 | Leukemia cells; moderate expression |
| MCF7 | 14.2 | Breast cancer cells; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1018C>T (p.Arg340Trp) | Missense | Rare | Likely loss of function; disrupts TFIID assembly |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Impaired transcription activation |
| c.1573_1574del (p.Leu525fs) | Frameshift | Very rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that disrupt TFIID complex integrity or reduce protein stability.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may act as a gain-of-function by enhancing transcription of proliferative genes.
Dominant Negative (DN)
Some missense mutations may produce a protein that interferes with wild-type TAF5 function in the TFIID complex.
View complete mutation data：
Gene Ontology (GO)
| • transcription factor TFIID complex (GO:0005669) | • DNA-templated transcription initiation (GO:0006352) |
| • protein binding (GO:0005515) | • DNA binding (GO:0003677) |
Pathways
• RNA polymerase II transcription initiation (Reactome R-HSA-75953)
• TFIID assembly (Reactome R-HSA-109581)
Protein Summary
TAF5 is a 800-amino acid protein that contains a histone-fold domain and a WD40 repeat domain. It is a core component of the TFIID complex, where it interacts with TBP and other TAFs to facilitate promoter recognition and transcription initiation. The protein is ubiquitously expressed and is essential for cell viability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF5L Knockout HEK293 Cell Line | EDJ-KQ8676 | Human | 27097 | Details Get a Quote |
| TAF5L Knockout A-549 Cell Line | EDJ-KQ34869 | Human | 27097 | Details Get a Quote |
| TAF5L Knockout HCT 116 Cell Line | EDJ-KQ34870 | Human | 27097 | Details Get a Quote |
| TAF5L Knockout HeLa Cell Line | EDJ-KQ34871 | Human | 27097 | Details Get a Quote |
