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GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRPF19
pre-mRNA processing factor 19
Chromosome 11 · 11q12.2
NCBI Gene: 27339Ensembl: ENSG00000110107.10HGNC: HGNC:17896UniProt: Q9UMS4
306PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly ConstrainedHub Gene
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Prp19 complexU2-type catalytic step 2 spliceosomecatalytic step 2 spliceosomeprotein bindingdengue diseaseneurodegenerative diseasegenetic disorderNeurodevelopmental disorder
✦AI Summary

PRPF19 is a multifunctional ubiquitin-protein ligase with dual roles in pre-mRNA splicing and DNA damage response. As a core component of the spliceosome's PRP19C/Prp19 complex, PRPF19 mediates Lys-63-linked polyubiquitination of spliceosomal proteins like PRPF3, stabilizing the U4/U5/U6 tri-snRNP complex and enabling proper spliceosome assembly and activity 1. In DNA repair, PRPF19 is recruited to damage sites where it ubiquitinates RPA complex proteins, facilitating ATR-mediated DNA damage checkpoint activation 2. PRPF19 participates in topoisomerase complex assembly critical for genome stability 3. Clinically, pathogenic PRPF19 variants cause neurodevelopmental disorders through splicing dysregulation, with neural loss-of-function producing lethality and brain abnormalities in model organisms 4. PRPF19 upregulation associates with poor prognosis in cancers including high-grade serous ovarian cancer and prostate cancer, where it promotes proliferation, migration, and chemoresistance while suppressing autophagy 56. Conversely, PRPF19 knockdown enhanced chemosensitivity and reduced tumor growth. PRPF19 is implicated in ferroptosis regulation through VDR degradation in diabetic nephropathy 7, while overexpression promotes skin cell viability and slows aging 8. These studies establish PRPF19 as a therapeutic target across multiple pathologies.

Sources cited
1
PRPF19 is required for pre-mRNA splicing as a component of the spliceosome
PMID: 28076346
2
PRPF19 ubiquitinates RPA complex proteins to recruit ATR-ATRIP and activate ATR in DNA damage response
PMID: 24332808
3
PRPF19-CDC5L complex is part of the topoisomerase complex NARC1 required for genome stability
PMID: 30150775
4
De novo PRPF19 variants cause neurodevelopmental disorders; neural loss-of-function causes lethality and brain abnormalities
PMID: 37962958
5
PRPF19 is highly expressed in high-grade serous ovarian cancer and promotes chemoresistance; PRPF19 knockdown enhances cisplatin sensitivity
PMID: 39983558
6
PRPF19 promotes prostate cancer proliferation, migration, and inhibits autophagy
PMID: 37929350
7
PRPF19 mediates VDR ubiquitination degradation to exacerbate ferroptosis in diabetic nephropathy
PMID: 40414879
8
PRPF19 overexpression in dermal fibroblasts promotes cell viability and slows aging
PMID: 37214773
Disease Associationsⓘ20
dengue diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.30Weak
genetic disorderOpen Targets
0.19Weak
Neurodevelopmental disorderOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.11Weak
Non-immune hydrops fetalisOpen Targets
0.11Weak
urinary bladder carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
neuroblastomaOpen Targets
0.07Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
liver cancerOpen Targets
0.05Suggestive
bladder transitional cell carcinomaOpen Targets
0.04Suggestive
posterior cortical atrophyOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
tongue cancerOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
Spinocerebellar ataxia type 3Open Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
Pathogenic Variants1
NM_014502.5(PRPF19):c.515T>G (p.Ile172Ser)Likely pathogenic
Inborn genetic diseases
★☆☆☆2025→ Residue 172
View on ClinVar ↗
Related Genes
DHX8Protein interaction100%FRG1Protein interaction100%MAGOHProtein interaction100%PLRG1Protein interaction100%PRCCProtein interaction100%SNRPA1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
76%
Ovary
65%
Liver
62%
Heart
43%
Lung
41%
Gene Interaction Network
Click a node to explore
PRPF19DHX8FRG1MAGOHPLRG1PRCCSNRPA1
PROTEIN STRUCTURE
Preparing viewer…
PDB4LG8 · 1.89 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.10Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.03 [0.01–0.10]
RankingsWhere PRPF19 stands among ~20K protein-coding genes
  • #1,129of 20,598
    Most Researched306 · top 10%
  • #4,664of 5,498
    Most Pathogenic Variants1
  • #54of 17,882
    Most Constrained (LOEUF)0.10 · top 1%
Genes detectedPRPF19
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
PMID: 37962958
J Clin Invest · 2024
1.00
2
PRPF19 modulates morphology and growth behavior in a cell culture model of human skin.
PMID: 37214773
Front Aging · 2023
0.90
3
Hub Genes PRPF19 and PPIB: Molecular Pathways and Potential Biomarkers in COPD.
PMID: 40524719
Int J Chron Obstruct Pulmon Dis · 2025
0.80
4
CRL4B E3 ligase recruited by PRPF19 inhibits SARS-CoV-2 infection by targeting ORF6 for ubiquitin-dependent degradation.
PMID: 38265236
mBio · 2024
0.76
5
Human proteins curing yeast prions.
PMID: 37903258
Proc Natl Acad Sci U S A · 2023
0.72