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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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OPLAH
5-oxoprolinase, ATP-hydrolysing
Chromosome 8 Β· 8q24.3
NCBI Gene: 26873Ensembl: ENSG00000178814.18HGNC: HGNC:8149UniProt: O14841
21PubMed Papers
21Diseases
0Drugs
44Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingidentical protein bindingglutathione catabolic processcytosol5-oxoprolinase deficiencyinborn errors of metabolismneuroinflammatory disorderplacenta praevia
✦AI Summary

OPLAH (5-oxoprolinase, ATP-hydrolysing) catalyzes the ATP-dependent cleavage of 5-oxo-L-proline to generate L-glutamate, functioning as a critical regulator within the glutathione metabolic cycle 1. Operating as a cytosolic enzyme, OPLAH prevents the accumulation of its substrate 5-oxoproline, which accumulates during glutathione catabolism and serves as a signaling molecule 2. OPLAH dysregulation associates with multiple disease states. OPLAH downregulation in heart failure leads to 5-oxoproline accumulation, oxidative stress, and worse clinical outcomes, while OPLAH overexpression improves cardiac function after ischemic injury 2. In a complementary role, exogenous 5-oxoproline supplementation protects against doxorubicin-induced cardiotoxicity while modulating OPLAH activity for therapeutic benefit 3. In skeletal muscle of type 2 diabetes models, OPLAH downregulation increases reactive oxygen species, reduces glutathione content, and impairs glucose uptake through PI3K/Akt/GLUT4 pathway inhibition 4. Additionally, OPLAH expression stratifies prognosis in esophageal squamous cell carcinoma, with elevated OPLAH independently predicting poor survival 5. Genetic variants in OPLAH associate with 4.8-fold increased risk of L-asparaginase-induced hypersensitivity in pediatric leukemia patients 6, while OPLAH expression regulation through RNA splicing impacts triple-negative breast cancer response 7.

Sources cited
1
OPLAH's role in the glutathione cycle; OPLAH downregulation leads to 5-oxoproline accumulation associated with heart failure
PMID: 32886767
2
OPLAH depletion in heart failure leads to elevated 5-oxoproline and oxidative stress; OPLAH overexpression improves cardiac function after ischemic injury; elevated plasma 5-oxoproline in HF patients associated with worse outcomes
PMID: 29118264
3
5-oxoproline/OPLAH axis as critical node in glutathione metabolism; exogenous 5-oxoproline restores myocardial levels and mitigates doxorubicin-induced cardiac dysfunction
PMID: 40639202
4
OPLAH downregulation in type 2 diabetes increases reactive oxygen species, decreases glutathione, inhibits PI3K/Akt/GLUT4 pathway, and reduces glucose uptake
PMID: 36195162
5
High OPLAH expression in esophageal squamous cell carcinoma is independent prognostic factor for poor survival; serum OPLAH associated with tumor stage
PMID: 37400143
6
OPLAH variant rs11993268 associated with 4.8-fold increased odds of L-asparaginase-induced hypersensitivity in pediatric ALL
PMID: 40119746
7
U2AF1-regulated splicing of OPLAH affects enzymatic activity and is essential for ERΞ²-induced R-loop formation and DNA damage in triple-negative breast cancer
PMID: 38513102
8
Pyroglutamic acid (5-oxoproline) and OPLAH identified as critical factors in epithelial-mesenchymal transition and idiopathic pulmonary fibrosis pathogenesis
PMID: 40398246
Disease Associationsβ“˜21
5-oxoprolinase deficiencyOpen Targets
0.76Strong
inborn errors of metabolismOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.21Weak
placenta praeviaOpen Targets
0.16Weak
familial sleep-related hypermotor epilepsyOpen Targets
0.12Weak
late-onset Alzheimers diseaseOpen Targets
0.09Suggestive
Dupuytren ContractureOpen Targets
0.06Suggestive
Romano-Ward syndromeOpen Targets
0.05Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.05Suggestive
cataract 46 juvenile-onsetOpen Targets
0.05Suggestive
dilated cardiomyopathy 1IIOpen Targets
0.05Suggestive
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.04Suggestive
Familial short QT syndromeOpen Targets
0.04Suggestive
hemolytic anemia due to glutathione reductase deficiencyOpen Targets
0.04Suggestive
Cataract-microcornea syndromeOpen Targets
0.04Suggestive
early-onset non-syndromic cataractOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.04Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.04Suggestive
Cataract with Y-shaped suture opacitiesOpen Targets
0.04Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.04Suggestive
5-oxoprolinase deficiencyUniProt
Pathogenic Variants44
NM_017570.5(OPLAH):c.313_316del (p.Arg105fs)Pathogenic
5-Oxoprolinase deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 105
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter)Pathogenic
5-Oxoprolinase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 1006
NM_017570.5(OPLAH):c.2608dup (p.His870fs)Pathogenic
5-Oxoprolinase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 870
NM_017570.5(OPLAH):c.744C>A (p.Tyr248Ter)Likely pathogenic
5-Oxoprolinase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 248
NM_017570.5(OPLAH):c.587+1G>APathogenic
5-Oxoprolinase deficiency
β˜…β˜…β˜†β˜†2021
NM_017570.5(OPLAH):c.2557C>T (p.Arg853Ter)Pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2026β†’ Residue 853
NM_017570.5(OPLAH):c.1336_1337del (p.Ser446fs)Pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 446
NM_017570.5(OPLAH):c.3623-2A>CLikely pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2025
NM_017570.5(OPLAH):c.975del (p.Arg324_Tyr325insTer)Pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 324
NM_017570.5(OPLAH):c.3701C>A (p.Ser1234Ter)Pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 1234
NM_017570.5(OPLAH):c.3081dup (p.Arg1028fs)Pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 1028
NM_017570.5(OPLAH):c.1903C>T (p.Arg635Ter)Likely pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 635
NM_017570.5(OPLAH):c.1707-2A>GLikely pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2024
NM_017570.5(OPLAH):c.3018+1G>TLikely pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2024
NM_017570.5(OPLAH):c.3457_3458del (p.Ser1153fs)Pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 1153
NM_017570.5(OPLAH):c.2303G>A (p.Arg768His)Likely pathogenic
not provided|5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 768
NM_017570.5(OPLAH):c.193dup (p.Arg65fs)Likely pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 65
NM_017570.5(OPLAH):c.2132_2133dup (p.Thr712Ter)Likely pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 712
NM_017570.5(OPLAH):c.3427dup (p.Thr1143fs)Likely pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 1143
NM_017570.5(OPLAH):c.3168dup (p.Val1057fs)Likely pathogenic
5-Oxoprolinase deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 1057
View on ClinVar β†—
Related Genes
GGCTProtein interaction97%GGT6Protein interaction95%GCLCProtein interaction94%GCLMProtein interaction94%GLSProtein interaction94%GLUD1Protein interaction94%
Tissue Expression6 tissues
Liver
100%
Heart
50%
Lung
25%
Ovary
20%
Brain
8%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
OPLAHGGCTGGT6GCLCGCLMGLSGLUD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O14841
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.99 [0.84–1.16]
RankingsWhere OPLAH stands among ~20K protein-coding genes
  • #13,973of 20,598
    Most Researched21
  • #1,456of 5,498
    Most Pathogenic Variants44
  • #12,159of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedOPLAH
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
5-Oxoproline prevents doxorubicin-induced cardiotoxicity and tumor growth.
PMID: 40639202
Redox Biol Β· 2025
1.00
2
Activation of ERΞ² hijacks the splicing machinery to trigger R-loop formation in triple-negative breast cancer.
PMID: 38513102
Proc Natl Acad Sci U S A Β· 2024
0.90
3
Heart failure and the glutathione cycle: an integrated view.
PMID: 32886767
Biochem J Β· 2020
0.80
4
Amino Acid Stress Response Genes Contribute to a 25-Fold Increased Risk of L-Asparaginase-Induced Hypersensitivity.
PMID: 40119746
Pediatr Blood Cancer Β· 2025
0.70
5
Functional metabolomics revealed pyroglutamic acid may play a key role in idiopathic pulmonary fibrosis.
PMID: 40398246
J Pharm Biomed Anal Β· 2025
0.60