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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PRAMEF1
PRAME family member 1
Chromosome 1 Β· 1p36.21
NCBI Gene: 65121Ensembl: ENSG00000116721.9HGNC: HGNC:28840UniProt: B7ZM17
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
ubiquitin-like ligase-substrate adaptor activityproteasome-mediated ubiquitin-dependent protein catabolic processcytoplasmCul2-RING ubiquitin ligase complexazoospermiapartial chromosome Y deletionspermatogenic failure 57spermatogenic failure 50
✦AI Summary

Based on limited published evidence, PRAMEF1 functions as a component of the Cul2-RING ubiquitin ligase complex involved in proteasome-mediated ubiquitin-dependent protein catabolism, localized to the cytoplasm with ubiquitin-like ligase-substrate adaptor activity. PRAMEF1 is significantly overexpressed in androgenotes compared to biparental embryos 1, suggesting a role in paternal genome contribution during early zygotic genome activation in embryonic development. However, its specific molecular targets and precise mechanisms remain undefined.

Sources cited
1
PRAMEF1 is significantly overexpressed in androgenotes, highlighting paternal genome contributions to early embryonic zygotic genome activation
PMID: 38622061
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.08Suggestive
spermatogenic failure 71Open Targets
0.08Suggestive
spermatogenic failure 63Open Targets
0.08Suggestive
isochromosomy YpOpen Targets
0.08Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.07Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 60Open Targets
0.07Suggestive
spermatogenic failure 73Open Targets
0.07Suggestive
spermatogenic failure 74Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
isochromosomy YqOpen Targets
0.07Suggestive
spermatogenic failure 93Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PRAMEF27Shared pathway100%PRAMEF14Shared pathway100%PRAMEF15Shared pathway100%PRAMEF22Shared pathway100%PRAMEF20Shared pathway100%PRAMEF19Shared pathway100%
Tissue Expression6 tissues
Heart
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
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PRAMEF1PRAMEF27PRAMEF14PRAMEF15PRAMEF22PRAMEF20PRAMEF19
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt O95521
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.58 [0.41–0.84]
RankingsWhere PRAMEF1 stands among ~20K protein-coding genes
  • #18,185of 20,598
    Most Researched6
  • #7,182of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedPRAMEF1
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Longitudinal profiling of human androgenotes through single-cell analysis unveils paternal gene expression dynamics in early embryo development.
PMID: 38622061
Hum Reprod Β· 2024
1.00