TAF5L
TATA-box binding protein associated factor 5 like
Gene Information Card
| Symbol | TAF5L |
|---|---|
| Full Name | TATA-box binding protein associated factor 5 like |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 283455 ncbi.nlm.nih.gov/gene/283455 |
| Ensembl ID | ENSG00000135829 |
| UniProt ID | O75529 |
| OMIM ID | 602953 |
| HGNC ID | 17304 |
| Aliases | PAF65B, PCAF associated factor 65 beta |
Description
TAF5L encodes a protein that is a component of the SAGA (Spt-Ada-Gcn5 acetyltransferase) and ATAC (Ada2a-containing) histone acetyltransferase complexes. It functions as a transcriptional coactivator, facilitating chromatin remodeling and gene activation. The protein interacts with TATA-box binding protein (TBP) and other transcription factors to regulate RNA polymerase II-dependent transcription.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | TAF5L overexpression or mutation may alter transcriptional programs promoting cell proliferation | COSMIC database reports somatic mutations in multiple cancer types |
| Neurodevelopmental disorders | Disruption of SAGA complex function may impair neuronal gene expression | ClinVar lists variants of uncertain significance in patients with developmental delay |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown; reported in COSMIC |
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | Unknown; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted to impair SAGA complex assembly or activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin modifying enzymes (Reactome: R-HSA-3244101)
• SAGA complex (Reactome: R-HSA-3214847)
Protein Summary
TAF5L is a 65 kDa protein that localizes to the nucleus and is a stable component of the SAGA and ATAC histone acetyltransferase complexes. It contains a WD40 repeat domain that mediates protein-protein interactions. The protein is essential for the structural integrity of these complexes and for their ability to acetylate histones and facilitate transcription.
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 |
