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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PNMA1
PNMA family member 1
Chromosome 14 · 14q24.3
NCBI Gene: 9240Ensembl: ENSG00000176903.5HGNC: HGNC:9158UniProt: Q8ND90
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingnucleoluscytoplasminflammatory response to antigenic stimulusneoplasmhepatocellular carcinomahead and neck squamous cell carcinomaretinoblastoma
✦AI Summary

PNMA1 is a domesticated retrotransposon-derived capsid gene with dual roles in reproduction and cancer progression. Primary function: PNMA1 maintains reproductive capacity through a germ cell-specific regulatory mechanism 1. The protein self-assembles into capsid-like structures that exit cells and decline with age; PNMA1 variants associate with altered testosterone, puberty onset, and obesity 2. In mouse models, Pnma1 knockout causes premature subfertility by six months with gonadal atrophy and reduced offspring 3. Mechanism in cancer: PNMA1 promotes tumorigenesis across multiple cancer types via pathway activation and immune suppression. In pancreatic ductal adenocarcinoma, PNMA1 elevates expression activates PI3K/AKT and MAPK/ERK signaling while promoting anti-apoptotic Bcl-2 family activity 4. In hepatocellular carcinoma, PNMA1 overexpression creates an immunosuppressive tumor microenvironment linked to bile acid metabolism and activates PI3K/AKT signaling; miR-33a-5p provides posttranscriptional regulation 56. In retinoblastoma, PNMA1 mediates melphalan chemoresistance through c-myc-dependent DNA damage repair pathway activation 7. Clinical significance: High PNMA1 expression correlates with poor prognosis, aggressive phenotypes, and larger tumors. PNMA1 represents a promising therapeutic target for tyrosine kinase inhibitors and pathway-based interventions across cancers.

Sources cited
1
Primary function: PNMA1 maintains reproductive capacity through a germ cell-specific regulatory mechanism .
PMID: 40263616
2
The protein self-assembles into capsid-like structures that exit cells and decline with age; PNMA1 variants associate with altered testosterone, puberty onset, and obesity .
PMID: 39041030
3
In mouse models, Pnma1 knockout causes premature subfertility by six months with gonadal atrophy and reduced offspring .
PMID: 38798495
4
In pancreatic ductal adenocarcinoma, PNMA1 elevates expression activates PI3K/AKT and MAPK/ERK signaling while promoting anti-apoptotic Bcl-2 family activity .
PMID: 25120759
5
In retinoblastoma, PNMA1 mediates melphalan chemoresistance through c-myc-dependent DNA damage repair pathway activation .
PMID: 40696007
Disease Associationsⓘ20
neoplasmOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
retinoblastomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.02Suggestive
multiple sclerosisOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.02Suggestive
oral squamous cell carcinomaOpen Targets
0.02Suggestive
osteosarcomaOpen Targets
0.02Suggestive
paraneoplastic neurologic syndromeOpen Targets
0.01Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.01Suggestive
liver cancerOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.01Suggestive
nervous system diseaseOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
Malignant MesotheliomaOpen Targets
0.01Suggestive
narcolepsyOpen Targets
0.01Suggestive
tonsil carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZCCHC12Protein interaction82%PNMA8AProtein interaction80%MOAP1Protein interaction80%PNMA6AProtein interaction74%BLIDShared pathway50%C3orf38Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
44%
Heart
28%
Bone Marrow
16%
Lung
12%
Liver
5%
Gene Interaction Network
Click a node to explore
PNMA1ZCCHC12PNMA8AMOAP1PNMA6ABLIDC3orf38
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8ND90
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.55–1.13]
RankingsWhere PNMA1 stands among ~20K protein-coding genes
  • #10,056of 20,598
    Most Researched41
  • #11,618of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedPNMA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The retrotransposon-derived capsid genes PNMA1 and PNMA4 maintain reproductive capacity.
PMID: 40263616
Nat Aging · 2025
1.00
2
PNMA1 is a novel immune modulator and therapeutic target in hepatocellular carcinoma linked to bile acid metabolism.
PMID: 39754028
Sci Rep · 2025
0.90
3
The retrotransposon-derived capsid genes
PMID: 39041030
Res Sq · 2024
0.80
4
PNMA1 promotes cell growth in human pancreatic ductal adenocarcinoma.
PMID: 25120759
Int J Clin Exp Pathol · 2014
0.70
5
The retrotransposon
PMID: 38798495
bioRxiv · 2024
0.60