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GeneE
2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RPEL1
ribulose-5-phosphate-3-epimerase like 1
Chromosome 10 · 10q24.33
NCBI Gene: 729020Ensembl: ENSG00000235376.5HGNC: HGNC:45241UniProt: Q2QD12
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
pentose-phosphate shunt, non-oxidative branchcytosolmetal ion bindingcarbohydrate metabolic processOvarian cystedemauterine fibroidUterine leiomyoma
✦AI Summary

Based on limited published evidence, RPEL1 catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate, functioning in the non-oxidative pentose-phosphate pathway. The protein localizes to the cytosol and contains metal ion binding activity. RPEL1 gene polymorphisms (rs4917385) have been associated with susceptibility to systemic lupus erythematosus and anxiety symptoms in Chinese populations 1. RPEL1 was investigated as a candidate gene for autosomal dominant hearing impairment but no disease-causing mutations were identified 2.

Sources cited
1
RPEL1 rs4917385 polymorphism associated with SLE susceptibility, anxiety symptoms, and depression in Chinese SLE patients
PMID: 36194484
2
RPEL1 sequenced as candidate gene for DFNA21 hearing impairment but no mutations identified
PMID: 16007628
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Ovarian cystOpen Targets
0.27Weak
edemaOpen Targets
0.05Suggestive
uterine fibroidOpen Targets
0.05Suggestive
Uterine leiomyomaOpen Targets
0.05Suggestive
cervical adenocarcinomaOpen Targets
0.05Suggestive
cervical cancerOpen Targets
0.05Suggestive
cervical carcinomaOpen Targets
0.05Suggestive
caudal duplicationOpen Targets
0.04Suggestive
hepatorenocardiac degenerative fibrosisOpen Targets
0.04Suggestive
Senior-Boichis syndromeOpen Targets
0.04Suggestive
endometrial cancerOpen Targets
0.04Suggestive
endometrial neoplasmOpen Targets
0.04Suggestive
colorectal adenocarcinomaOpen Targets
0.04Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.04Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.04Suggestive
Müllerian duct anomalies - limb anomaliesOpen Targets
0.04Suggestive
mullerian duct anomalies-limb anomalies syndromeOpen Targets
0.04Suggestive
46,XX gonadal dysgenesisOpen Targets
0.04Suggestive
primary ovarian insufficiencyOpen Targets
0.04Suggestive
kidney failureOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RBM45Protein interaction99%RPEProtein interaction97%TKTL1Protein interaction95%XYLBProtein interaction95%TKTL2Protein interaction95%G6PDProtein interaction94%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
81%
Lung
0%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
RPEL1RBM45RPETKTL1XYLBTKTL2G6PD
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q2QD12
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.51 [0.29–0.96]
RankingsWhere RPEL1 stands among ~20K protein-coding genes
  • #17,700of 20,598
    Most Researched8
  • #9,123of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedRPEL1
Sources retrieved2 papers
Response time—
📄 Sources
2
1
Associations of RPEL1 and miR-1307 gene polymorphisms with disease susceptibility, glucocorticoid efficacy, anxiety, depression, and health-related quality of life in Chinese systemic lupus erythematosus patients.
PMID: 36194484
Lupus · 2022
1.00
2
Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.
PMID: 16007628
Am J Med Genet A · 2005
0.50