TAF1L
TATA-Box Binding Protein Associated Factor 1 Like
Gene Information Card
| Symbol | TAF1L |
|---|---|
| Full Name | TATA-Box Binding Protein Associated Factor 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 9p21.1 |
| NCBI Gene ID | 138474 ncbi.nlm.nih.gov/gene/138474 |
| Ensembl ID | ENSG00000197837 |
| UniProt ID | Q8IZX4 |
| OMIM ID | 300275 |
| HGNC ID | 11575 |
| Aliases | TAF1A, TAF(II)170, TAF2A |
Description
TAF1L (TATA-Box Binding Protein Associated Factor 1 Like) is a protein-coding gene that encodes a component of the transcription factor IID (TFIID) complex. This complex is essential for the initiation of RNA polymerase II transcription. TAF1L shares homology with TAF1 and is involved in cell cycle regulation and transcriptional activation. The gene is located on chromosome 9p21.1 and is expressed in various tissues, with notable roles in spermatogenesis and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | TAF1L overexpression may drive oncogenic transcription programs | COSMIC database reports mutations and copy number alterations in multiple cancer types |
| Neurodevelopmental disorders | Potential role in transcriptional dysregulation | Limited evidence; inferred from TAF1-related disorders |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Low expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G | Missense | <0.1% | Unknown functional impact |
| c.567_568del | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of TFIID function.
Gain of Function (GOF)
Not well characterized; overexpression in cancer may indicate gain-of-function.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • transcription initiation from RNA polymerase II promoter | • DNA binding |
| • protein heterodimerization activity | • nucleus |
Pathways
• RNA polymerase II transcription initiation
• TFIID complex assembly
Protein Summary
TAF1L is a 170 kDa protein that forms part of the TFIID complex, binding to the TATA box and facilitating RNA polymerase II pre-initiation complex assembly. It contains a bromodomain that recognizes acetylated histones, linking chromatin remodeling to transcription. TAF1L is highly expressed in testis and is implicated in spermatogenesis and cancer cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF1L Knockout HEK293 Cell Line | EDJ-KQ9412 | Human | 138474 | Details Get a Quote |
| TAF1L Knockout HeLa Cell Line | EDJ-KQ58392 | Human | 138474 | Details Get a Quote |
| TAF1L Knockout A-549 Cell Line | EDJ-KQ66880 | Human | 138474 | Details Get a Quote |
| TAF1L Knockout HCT 116 Cell Line | EDJ-KQ75282 | Human | 138474 | Details Get a Quote |
| TAF1L Knockout HAP1 Cell Line | EDC07977 | Human | 138474 | Details Get a Quote |
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