ENSG00000178814


Homo sapiens

Features
Gene ID: ENSG00000178814
  
Biological name :OPLAH
  
Synonyms : 5-oxoprolinase, ATP-hydrolysing / O14841 / OPLAH
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q24.3
Gene start: 144051266
Gene end: 144063965
  
Corresponding Affymetrix probe sets: 222025_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000480476
Ensembl peptide - ENSP00000481640
NCBI entrez gene - 26873     See in Manteia.
OMIM - 614243
RefSeq - NM_017570
RefSeq - XM_011516960
RefSeq Peptide - NP_060040
swissprot - A0A087WY99
swissprot - O14841
Ensembl - ENSG00000178814
  
Related genetic diseases (OMIM): 260005 - 5-oxoprolinase deficiency, 260005
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 oplahENSDARG00000045123Danio rerio
 OplahENSMUSG00000022562Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002821  Hydantoinase A/oxoprolinase
 IPR003692  Hydantoinase B/oxoprolinase
 IPR008040  Hydantoinaseoxoprolinase, N-terminal
 IPR029385  Speriolin, N-terminal
 IPR036388  Winged helix-like DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006749 glutathione metabolic process IBA
 biological_processGO:0006750 glutathione biosynthetic process TAS
 cellular_componentGO:0005829 cytosol IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0017168 5-oxoprolinase (ATP-hydrolyzing) activity TAS


Pathways (from Reactome)
Pathway description
Glutathione synthesis and recycling
Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002013 Vomiting 
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 HP:0002014 Diarrhea 
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 HP:0002027 Abdominal pain 
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 HP:0003137 Prolinuria 
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 HP:0004387 Enterocolitis 
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 HP:0008672 Calcium oxalate nephrolithiasis 
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 HP:0040142 5-oxoprolinase deficiency 
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 HP:0410132 Increased level of L-pyroglutamic acid in urine "An increase in the level of L-pyroglutamic acid in the urine." [PMID:10094443, PMID:4557757]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000178814 OPLAH / O14841 / 5-oxoprolinase, ATP-hydrolysing  / complex






 

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