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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PPIL4
peptidylprolyl isomerase like 4
Chromosome 6 · 6q25.1
NCBI Gene: 85313Ensembl: ENSG00000131013.5HGNC: HGNC:15702UniProt: Q8WUA2
93PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmcytosolRNA bindingprotein bindingdengue diseasesystemic lupus erythematosusatrial fibrillationinfection
✦AI Summary

PPIL4 (peptidylprolyl isomerase like 4) is a nuclear RNA-binding protein located on chromosome 6-q25 that functions as a peptidyl-prolyl cis-trans isomerase involved in protein folding 1. Beyond its canonical PPIase activity, PPIL4 contains an RNA recognition motif and plays critical roles in pre-mRNA splicing. Structurally, PPIL4 functions as a component of the spliceosomal catalytic activation pathway, where it assembles with PRP2 helicase to regulate translocation termination during the transition from Bact to B* spliceosomes 2. At the molecular level, PPIL4 is ubiquitinated by USP7, a deubiquitinase; USP7-mediated PPIL4 deubiquitination regulates splicing of synaptic genes and dendritic spinogenesis 3. PPIL4 is also implicated in vascular development, where it potentiates Wnt signaling by binding JMJD6 to regulate brain angiogenesis and cerebrovascular integrity 4. Clinically, rare deleterious mutations in PPIL4 are enriched in familial and sporadic intracranial aneurysm cases, and loss of PPIL4 function causes intracerebral hemorrhage and impaired Wnt signaling 4. Additionally, PPIL4 represents a novel drug target for CRBN-mediated protein degradation 5. These findings position PPIL4 as a multifunctional protein essential for splicing regulation, neuronal connectivity, and cerebrovascular homeostasis.

Sources cited
1
PPIL4 is a nuclear RNA-binding cyclophilin-like protein with PPIase motif, RNA recognition motif, and nuclear targeting sequences; located on chromosome 6q24-q25
PMID: 11978968
2
PPIL4 assembles with PRP2 helicase to regulate translocation termination during spliceosomal catalytic activation
PMID: 37165190
3
PPIL4 is a USP7 substrate; USP7-PPIL4 signaling regulates splicing of synaptic genes and dendritic spinogenesis independent of p53
PMID: 39862434
4
PPIL4 mutations are enriched in intracranial aneurysm cases; PPIL4 potentiates Wnt signaling by binding JMJD6 to regulate brain angiogenesis and cerebrovascular integrity
PMID: 34887573
5
PPIL4 is identified as a neo-substrate for CRBN-mediated protein degradation through molecular glue-induced proximity
PMID: 40707481
Disease Associationsⓘ20
dengue diseaseOpen Targets
0.37Weak
systemic lupus erythematosusOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
atrial flutterOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
acute promyelocytic leukemiaOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.02Suggestive
leukemiaOpen Targets
0.02Suggestive
gastric cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
cardiovascular diseaseOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
abscessOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
rheumatoid arthritisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HNRNPA1L3Shared pathway100%RBMXL1Shared pathway100%RBMY1EShared pathway100%RBMY1DShared pathway100%RBM44Shared pathway100%HNRNPA3Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
62%
Heart
48%
Brain
45%
Lung
38%
Liver
36%
Gene Interaction Network
Click a node to explore
PPIL4HNRNPA1L3RBMXL1RBMY1ERBMY1DRBM44HNRNPA3
PROTEIN STRUCTURE
Preparing viewer…
PDB8I0T · 3.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.41–1.09]
RankingsWhere PPIL4 stands among ~20K protein-coding genes
  • #5,161of 20,598
    Most Researched93
  • #11,071of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedPPIL4
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Unveiling the hidden interactome of CRBN molecular glues.
PMID: 40707481
Nat Commun · 2025
1.00
2
Structural basis of catalytic activation in human splicing.
PMID: 37165190
Nature · 2023
0.83
3
The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway.
PMID: 39862434
Cell Rep · 2025
0.67
4
Molecular cloning, structure and expression of a novel nuclear RNA-binding cyclophilin-like gene (PPIL4) from human fetal brain.
PMID: 11978968
Cytogenet Cell Genet · 2001
0.50
5
Genome-wide association mapping for dominance effects in female fertility using real and simulated data from Danish Holstein cattle.
PMID: 32076041
Sci Rep · 2020
0.33