HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
23 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PLRG1
pleiotropic regulator 1
Chromosome 4 · 4q31.3
NCBI Gene: 5356Ensembl: ENSG00000171566.13HGNC: HGNC:9089UniProt: O43660
166PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA replication factor A complexprotein bindingmRNA splicing, via spliceosomefibrillar centerneurodegenerative diseasemultiple sclerosisParkinson diseaselysosomal storage disease
✦AI Summary

PLRG1 (pleiotropic regulator 1) is a highly conserved spliceosomal protein functioning as a critical component of the PRP19-CDC5L complex, also known as the nineteen complex (NTC) 1. Its primary role involves pre-mRNA splicing through integration into the spliceosome catalytic machinery 23. Mechanistically, PLRG1 contains a WD40 domain that undergoes dynamic conformational changes upon binding spliceosomal partners, facilitating spliceosome assembly 4. The protein interacts directly with hnRNP-M and CDC5L to regulate alternative splice site selection 5. Beyond splicing, PLRG1 participates in DNA repair as part of the NTC, which functions as a multimeric E3 ubiquitin ligase activated through stepwise assembly with Prp19, SPF27, and CDC5L 6. PLRG1 is significantly upregulated in multiple tumor types, where elevated expression promotes cancer cell proliferation and genome stability maintenance while being dispensable in normal cells 1. In hepatocellular carcinoma, PLRG1 cooperates with DHX37 to drive cyclin D1 transcription via superenhancer elements 7 and promotes epithelial-mesenchymal transition when transcriptionally activated by YBX1 8. Its nuclear speckle localization is dynamically regulated by the deubiquitylase USP42, which directs PLRG1 integration into phase-separated condensates 9. These findings establish PLRG1 as a potential anticancer therapeutic target.

Sources cited
1
PLRG1 involvement in pre-mRNA splicing as spliceosome component
PMID: 28076346
2
PLRG1 involvement in pre-mRNA splicing as spliceosome component
PMID: 28502770
3
PLRG1 upregulation in tumors, role in cell proliferation and genome stability, differential effects in cancer versus normal cells
PMID: 37817442
4
WD40 domain structure and dynamic conformational changes during spliceosome assembly
PMID: 33239170
5
PLRG1 interaction with hnRNP-M and CDC5L affecting alternative splice site choice
PMID: 20467437
6
PLRG1 component of NTC E3 ubiquitin ligase complex and DNA repair function
PMID: 29547724
7
PLRG1 cooperation with DHX37 in cyclin D1 transcription via superenhancers in hepatocellular carcinoma
PMID: 35290436
8
PLRG1 promotes epithelial-mesenchymal transition in HCC under YBX1 regulation
PMID: 39400789
9
USP42-mediated regulation of PLRG1 nuclear speckle localization via phase separation
PMID: 33731873
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
dengue diseaseOpen Targets
0.37Weak
coronary artery diseaseOpen Targets
0.15Weak
venous thromboembolismOpen Targets
0.15Weak
Ischemic strokeOpen Targets
0.15Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
liver cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
gliomaOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
subarachnoid hemorrhageOpen Targets
0.03Suggestive
bone remodeling diseaseOpen Targets
0.03Suggestive
head injuryOpen Targets
0.03Suggestive
crystal arthropathyOpen Targets
0.03Suggestive
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
Liver
100%
Heart
96%
Ovary
91%
Bone Marrow
72%
Brain
69%
Lung
69%
Gene Interaction Network
Click a node to explore
PLRG1HNRNPA1L3RBMXL1RBMY1ERBMY1DRBM44HNRNPA3
PROTEIN STRUCTURE
Preparing viewer…
PDB4YVD · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.24 [0.12–0.54]
RankingsWhere PLRG1 stands among ~20K protein-coding genes
  • #2,695of 20,598
    Most Researched166 · top quartile
  • #3,422of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedPLRG1
Sources retrieved23 papers
Response time—
📄 Sources
23▼
1
USP42 drives nuclear speckle mRNA splicing via directing dynamic phase separation to promote tumorigenesis.
PMID: 33731873
Cell Death Differ · 2021
1.00
2
Elevated level of PLRG1 is critical for the proliferation and maintenance of genome stability of tumor cells.
PMID: 37817442
BMB Rep · 2023
0.90
3
RNA Helicase DHX37 Facilitates Liver Cancer Progression by Cooperating with PLRG1 to Drive Superenhancer-Mediated Transcription of Cyclin D1.
PMID: 35290436
Cancer Res · 2022
0.80
4
Discovering periodontitis biomarkers and therapeutic targets through bioinformatics and ensemble learning analysis.
PMID: 41044121
Sci Rep · 2025
0.70
5
Leucine-rich α2-glycoprotein-1 upregulation in plasma and kidney of patients with lupus nephritis.
PMID: 32252660
BMC Nephrol · 2020
0.65