PAF1
RNA Polymerase II-Associated Factor 1 Homolog
Gene Information Card
| Symbol | PAF1 |
|---|---|
| Full Name | RNA polymerase II-associated factor 1 homolog |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 54623 ncbi.nlm.nih.gov/gene/54623 |
| Ensembl ID | ENSG00000104884 |
| UniProt ID | Q8N7H5 |
| OMIM ID | 610510 |
| HGNC ID | 25445 |
| Aliases | PD2, hPAF1, RNA polymerase II-associated factor 1 |
Description
PAF1 encodes a component of the PAF1 complex, which is involved in transcription elongation, RNA processing, and chromatin modification. The protein interacts with RNA polymerase II and is essential for proper gene expression, cell cycle progression, and development. It has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | PAF1 overexpression promotes Wnt/β-catenin signaling and tumor growth | PMID: 23431171 |
| Breast cancer | PAF1 upregulation correlates with poor prognosis and enhanced proliferation | PMID: 25636800 |
| Pancreatic cancer | PAF1 is required for KRAS-driven tumorigenesis | PMID: 27307491 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Bone marrow | 11.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney cells |
| HeLa | 13.2 | Cervical carcinoma cells |
| K562 | 11.8 | Leukemia cells |
| MCF7 | 10.9 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | 0.001% | Unknown functional impact |
| c.1456G>A (p.Glu486Lys) | Missense | 0.002% | Reported in COSMIC database |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare truncating variants may reduce PAF1 complex activity.
Gain of Function (GOF)
Overexpression observed in multiple cancers suggests oncogenic gain-of-function.
Dominant Negative (DN)
No dominant-negative mutations reported in literature.
View complete mutation data：
Gene Ontology (GO)
| • transcription (GO:0006351) | • regulation of transcription (GO:0006355) |
| • nucleus (GO:0005634) | • Paf1 complex (GO:0016593) |
| • transcription elongation from RNA polymerase II promoter (GO:0006368) |
Pathways
• RNA polymerase II transcription elongation
• Wnt/β-catenin signaling
• Cell cycle
Protein Summary
PAF1 is a 60 kDa nuclear protein that forms part of the PAF1 complex, which associates with RNA polymerase II to regulate transcription elongation and chromatin modifications. It plays a role in histone H2B monoubiquitination and H3K4 trimethylation, influencing gene expression patterns critical for cell proliferation and differentiation.
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