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29 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PAF1
PAF1 component of Paf1/RNA polymerase II complex
Chromosome 19 · 19q13.2
NCBI Gene: 54623Ensembl: ENSG00000006712.16HGNC: HGNC:25459UniProt: Q8N7H5
181PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription FactorTumor Suppressor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II complex bindingfibrillar centernucleusnucleoplasmneurodegenerative diseaseParkinson diseaseAlzheimer diseasemultiple sclerosis
✦AI Summary

PAF1 is a core component of the PAF1 complex (PAF1C) that plays essential roles in RNA polymerase II-mediated transcription regulation and cellular development 1. The PAF1 complex associates with RNA polymerase II and functions in transcriptional elongation, working both independently and synergistically with other elongation factors 2. Mechanistically, PAF1C displaces the negative elongation factor NELF from RNA polymerase II to enable pause release and transcription activation 2. PAF1 also coordinates histone modifications and mRNA processing events as part of its transcriptional regulatory function 1. The complex is crucial for maintaining stem cell pluripotency and self-renewal, with PAF1 specifically regulating expression of key stemness genes like NANOG through interactions with DDX3 and PHF5A 3. In disease contexts, PAF1 has significant clinical relevance as it is upregulated in pancreatic and ovarian cancer stem cells and demonstrates oncogenic transformation capacity 1. Loss-of-function variants in the related PAF1 complex component CTR9 increase myeloid malignancy risk by approximately 10-fold through dysregulation of hematopoietic stem cell self-renewal 4. Additionally, PAF1 maintains nucleolar organization and ribosomal RNA biogenesis by regulating intergenic ribosomal DNA transcription 5, highlighting its broad cellular functions beyond transcriptional elongation.

Sources cited
1
PAF1 is the core subunit of PAF1C that regulates transcription elongation and is upregulated in cancer stem cells with oncogenic transformation capacity
PMID: 29311159
2
PAF1 complex displaces NELF from RNA polymerase II funnel for pause release and transcription activation
PMID: 30135578
3
PAF1 maintains pancreatic cancer stem cell features through interactions with DDX3 and PHF5A, regulating NANOG expression
PMID: 32781084
4
Loss-of-function variants in PAF1 complex component CTR9 increase myeloid malignancy risk ~10-fold through dysregulated hematopoietic stem cell self-renewal
PMID: 38218188
5
PAF1 maintains nucleolar organization and ribosomal RNA biogenesis by regulating intergenic ribosomal DNA transcription
PMID: 39505901
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.48Moderate
Parkinson diseaseOpen Targets
0.48Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
dengue diseaseOpen Targets
0.37Weak
peroxisome biogenesis disorder 1A (Zellweger)Open Targets
0.12Weak
neoplasmOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
pachyonychia congenitaOpen Targets
0.08Suggestive
dry eye syndromeOpen Targets
0.07Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
ovarian cancerOpen Targets
0.05Suggestive
multiple myelomaOpen Targets
0.03Suggestive
breast cancerOpen Targets
0.03Suggestive
infectionOpen Targets
0.02Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.02Suggestive
hypertrophic cardiomyopathyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CHD1Protein interaction99%POLR2AProtein interaction99%SSRP1Protein interaction99%SUPT4H1Protein interaction99%SUPT5HProtein interaction99%SUPT6HProtein interaction99%
Tissue Expression6 tissues
Ovary
100%
Brain
95%
Liver
92%
Heart
85%
Lung
75%
Bone Marrow
67%
Gene Interaction Network
Click a node to explore
PAF1CHD1POLR2ASSRP1SUPT4H1SUPT5HSUPT6H
PROTEIN STRUCTURE
Preparing viewer…
PDB9HVQ · 2.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.60Moderately Constrained
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.44 [0.33–0.60]
RankingsWhere PAF1 stands among ~20K protein-coding genes
  • #2,402of 20,598
    Most Researched181 · top quartile
  • #4,065of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedPAF1
Sources retrieved29 papers
Response time—
📄 Sources
29▼
1
Inherited blood cancer predisposition through altered transcription elongation.
PMID: 38218188
Cell · 2024
1.00
2
PD2/PAF1 at the Crossroads of the Cancer Network.
PMID: 29311159
Cancer Res · 2018
0.90
3
Parafibromin--functional insights.
PMID: 19522828
J Intern Med · 2009
0.80
4
PAF1C-mediated activation of CDK12/13 kinase activity is critical for CTD phosphorylation and transcript elongation.
PMID: 40315851
Mol Cell · 2025
0.76
5
ARF alters PAF1 complex integrity to selectively repress oncogenic transcription programs upon p53 loss.
PMID: 39532099
Mol Cell · 2024
0.72