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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PMF1
polyamine modulated factor 1
Chromosome 1 · 1q22
NCBI Gene: 11243Ensembl: ENSG00000160783.20HGNC: HGNC:9112UniProt: Q6P1K2
53PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription coactivator activityprotein bindingleucine zipper domain bindingchromosome segregationneurodegenerative diseasestrokeIschemic strokerenal carcinoma
✦AI Summary

PMF1 (polyamine modulated factor 1) is a multifunctional protein involved in both nuclear and cytoplasmic processes. Primary functions include roles in kinetochore assembly and chromosome 1, with PMF1 localizing to the outer kinetochore as part of the MIS12/MIND complex 1, and transcriptional regulation through interactions with RNA polymerase II [GO annotations]. The protein is involved in polyamine homeostasis, an important regulator of cell growth and death 2. Mechanistically, PMF1 expression is regulated by DNA methylation, with hypermethylation of its promoter CpG island leading to transcriptional silencing 2. In bladder cancer, PMF1 hypermethylation is associated with loss of cytoplasmic protein expression 2. At the 1q22 locus, PMF1 expression is regulated through long-range promoter-enhancer chr1 interactions, and PMF1 overexpression may dysregulate polyamine catabolism 3. Clinically, PMF1 has significant disease relevance. In bladder cancer, PMF1 methylation is associated with tumor progression and poor overall survival in both univariate and multivariate analyses 24. PMF1 methylation in urinary specimens shows diagnostic potential (area under curve = 0.800) 2. Genetic variants at the PMF1 locus are associated with cerebral small vessel diseases, including non-lobar intracerebral hemorrhage and lacunar stroke 135, suggesting PMF1 as a potential therapeutic target for stroke prevention.

Sources cited
1
PMF1 locus (SLC25A44-PMF1-BGLAP) associated with lacunar stroke and cerebral white matter hyperintensities in GWAS meta-analysis
PMID: 33773637
2
PMF1 hypermethylation associated with gene silencing, tumor progression, poor survival in bladder cancer, and diagnostic potential in urine specimens
PMID: 19088041
3
PMF1 methylation identified as biomarker associated with poor survival in muscle-invasive bladder cancer
PMID: 23628807
4
PMF1 overexpression at 1q22 locus causally related to non-lobar ICH risk through altered promoter-enhancer interactions affecting polyamine catabolism
PMID: 37787451
5
PMF1 identified as genetic risk locus for hemorrhagic stroke
PMID: 27796860
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
strokeOpen Targets
0.33Weak
Ischemic strokeOpen Targets
0.29Weak
renal carcinomaOpen Targets
0.25Weak
kidney failureOpen Targets
0.20Weak
myeloproliferative disorderOpen Targets
0.19Weak
clear cell renal carcinomaOpen Targets
0.19Weak
Testicular Germ Cell TumorOpen Targets
0.15Weak
small vessel strokeOpen Targets
0.14Weak
cancerOpen Targets
0.13Weak
Alzheimer diseaseOpen Targets
0.10Suggestive
placenta praeviaOpen Targets
0.07Suggestive
intracerebral hemorrhageOpen Targets
0.06Suggestive
ovarian neoplasmOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
urinary bladder carcinomaOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
atrial fibrillationOpen Targets
0.03Suggestive
uterine fibroidOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BUB1Protein interaction100%KNL1Protein interaction100%BUB1BProtein interaction99%CBX3Protein interaction98%NFE2L2Protein interaction95%SAT1Protein interaction91%
Tissue Expression6 tissues
Liver
100%
Lung
81%
Heart
79%
Ovary
78%
Bone Marrow
74%
Brain
57%
Gene Interaction Network
Click a node to explore
PMF1BUB1KNL1BUB1BCBX3NFE2L2SAT1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6P1K2
View on AlphaFold ↗
RankingsWhere PMF1 stands among ~20K protein-coding genes
  • #8,475of 20,598
    Most Researched53
Genes detectedPMF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
PMID: 33773637
Lancet Neurol · 2021
1.00
2
Identification of PMF1 methylation in association with bladder cancer progression.
PMID: 19088041
Clin Cancer Res · 2008
0.90
3
DNA methylation-based biomarkers in bladder cancer.
PMID: 23628807
Nat Rev Urol · 2013
0.80
4
Deep Resequencing of the 1q22 Locus in Non-Lobar Intracerebral Hemorrhage.
PMID: 37787451
Ann Neurol · 2024
0.70
5
Metabolism of Kaempferia parviflora polymethoxyflavones by human intestinal bacterium Bautia sp. MRG-PMF1.
PMID: 25437273
J Agric Food Chem · 2014
0.60