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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRPF18
pre-mRNA processing factor 18
Chromosome 10 · 10p13
NCBI Gene: 8559Ensembl: ENSG00000165630.16HGNC: HGNC:17351UniProt: Q99633
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinggeneration of catalytic spliceosome for second transesterification stepU2-type post-spliceosomal complexU5 snRNPneurodegenerative diseaseAbnormality of skin pigmentationdisturbances of sensation of smell and tastesevere intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
✦AI Summary

PRPF18 (pre-mRNA processing factor 18) is a spliceosomal protein that participates in the second step of pre-mRNA splicing 1. The protein functions as a component of the U4/U6•U5 tri-snRNP complex and is involved in generating the catalytic spliceosome for the second transesterification step of splicing [UniProt/GO annotations]. Mechanistically, PRPF18 forms stable complexes with the cyclophilin USA-CyP, which facilitates its spliceosomal function; cyclosporin A inhibition of USA-CyP specifically blocks PRPF18-dependent splicing both in vitro and in vivo 1. Beyond canonical splicing, PRPF18 exhibits broader cellular roles: it functions as a nucleoprotein chaperone that stimulates influenza virus RNA synthesis by facilitating nucleoprotein-RNA complex formation and promoting viral polymerase elongation 2. Genetically, PRPF18 variants have been identified in association with skin pigmentation in African-admixed populations at an intergenic locus with BEND7 3, and mercury exposure-associated DNA methylation changes near PRPF18 have been documented in newborn cord blood 4. Additionally, PRPF18 transcription is modulated during gamma-globin induction through NO/cGMP signaling pathways in erythroid progenitors 5, and the gene appears in customized cancer genomics panels for endometrial carcinoma classification 6. These findings indicate PRPF18 has multifaceted roles spanning RNA processing, viral pathogenesis, and disease-associated gene regulation.

Sources cited
1
PRPF18 (hPrp18) participates in both steps of pre-mRNA splicing and forms complexes with cyclophilin USA-CyP; cyclosporin A inhibition of USA-CyP blocks the second step of splicing by inhibiting hPrp18 function
PMID: 11823439
2
PRPF18 stimulates influenza virus RNA synthesis and functions as a nucleoprotein chaperone that facilitates NP-RNA complex formation and viral polymerase elongation
PMID: 27852861
3
An intergenic region between BEND7 and PRPF18 is associated with skin pigmentation in African-admixed populations
PMID: 28300201
4
Mercury exposure is associated with DNA methylation changes near the PRPF18 gene in newborn cord blood
PMID: 25906783
5
PRPF18 is activated via NO/cGMP signaling pathways during gamma-globin induction in erythroid progenitors
PMID: 23425329
6
PRPF18 is included in a customized targeted sequencing panel for endometrial carcinoma histological typing
PMID: 30710169
7
PRPF18 is downregulated in oocytes experiencing recurrent total fertilization failure, associated with impaired RNA processing
PMID: 30559372
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
Abnormality of skin pigmentationOpen Targets
0.31Weak
disturbances of sensation of smell and tasteOpen Targets
0.31Weak
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeOpen Targets
0.30Weak
type 1 diabetes mellitusOpen Targets
0.11Weak
urolithiasisOpen Targets
0.09Suggestive
KeloidOpen Targets
0.09Suggestive
alcohol drinkingOpen Targets
0.08Suggestive
complicationOpen Targets
0.08Suggestive
medical procedureOpen Targets
0.08Suggestive
trauma complicationOpen Targets
0.08Suggestive
Hallux rigidusOpen Targets
0.08Suggestive
basal cell carcinomaOpen Targets
0.08Suggestive
acquired thrombocytopeniaOpen Targets
0.08Suggestive
spontaneous abortionOpen Targets
0.08Suggestive
COVID-19Open Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
Sjogren syndromeOpen Targets
0.06Suggestive
adolescent idiopathic scoliosisOpen Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SRSF11Shared pathway100%SNW1Protein interaction100%SNRPFProtein interaction100%SYF2Protein interaction100%BUD31Protein interaction100%XAB2Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
65%
Heart
49%
Lung
37%
Liver
34%
Ovary
30%
Gene Interaction Network
Click a node to explore
PRPF18SRSF11SNW1SNRPFSYF2BUD31XAB2
PROTEIN STRUCTURE
Preparing viewer…
PDB2DK4 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.17LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.64–1.17]
RankingsWhere PRPF18 stands among ~20K protein-coding genes
  • #11,045of 20,598
    Most Researched35
  • #12,256of 17,882
    Most Constrained (LOEUF)1.17
Genes detectedPRPF18
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Globin gene expression in correlation with G protein-related genes during erythroid differentiation.
PMID: 23425329
BMC Genomics · 2013
1.00
2
Targeted sequencing with a customized panel to assess histological typing in endometrial carcinoma.
PMID: 30710169
Virchows Arch · 2019
0.88
3
Transcriptome profiling of human oocytes experiencing recurrent total fertilization failure.
PMID: 30559372
Sci Rep · 2018
0.75
4
Identification of a novel locus associated with skin colour in African-admixed populations.
PMID: 28300201
Sci Rep · 2017
0.63
5
Prenatal mercury concentration is associated with changes in DNA methylation at TCEANC2 in newborns.
PMID: 25906783
Int J Epidemiol · 2015
0.50