OPLAH (5-oxoprolinase, ATP-hydrolysing)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 26873
Gene name 5-oxoprolinase, ATP-hydrolysing
Gene symbol OPLAH
Synonyms (NCBI Gene)
5-OpaseOPLAOPLAHD
Chromosome 8
Chromosome location 8q24.3
Summary The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]
SNPs SNP information provided by dbSNP.
4
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs185836803 C>A,T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant
rs539275646 C>T Likely-pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs543486699 G>A Pathogenic Non coding transcript variant, stop gained, coding sequence variant
rs781956288 G>-,GG Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614243 8149 ENSG00000178814
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14841
Protein name 5-oxoprolinase (EC 3.5.2.9) (5-oxo-L-prolinase) (5-OPase) (Pyroglutamase)
Protein function Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05378 Hydant_A_N 9 → 212 Hydantoinase/oxoprolinase N-terminal region Family
PF01968 Hydantoinase_A 231 → 531 Hydantoinase/oxoprolinase Family
PF02538 Hydantoinase_B 734 → 1256 Hydantoinase B/oxoprolinase Family
Sequence 
MGSPEGRFHFAIDRGGTFTDVFAQCPGGHVRVLKLLSEDPANYADAPTEGIRRILEQEAG
MLLPRDQPLDSSHIASIRMGTTVATNALLERKGERVALLVTRGFRDLLHIGTQARGDLFD
LAVPMPEVLYEEVLEVDERVVLHRGEAGTGTPVKGRTGDLLEVQQPVDLGALRGKLEGLL
SRGIRSLAVVLMHSYTWAQHEQQVGVLARELGFTHVSLSSEAMPMVRIVPRGHTACADAY
LTPAIQRYVQGFCRGFQGQLKDVQVLFMRSDGGLAPMDTFSGSSAVLSGPAGGVVGYSAT
TYQQEGGQPVIGFDMGGTSTDVSRYAGEFEHVFEASTAGVTLQAPQLDINTVAAGGGSRL
FFRSGLFVVGPESAGAHPGPACYRKGGPVTVTDANLVLGRLLPASFPCIFGPGENQPLSP
EASRKALEAVATEVNSFLTNGPCPASPLSLEEVAMGFVRVANEAMCRPIRALTQARGHDP
SAHVLACFGGAGGQHACAIARALGMDTVHIHRHSGLLSALGLALADVVHEAQEPCSLLYA
PETFVQLDQRLSRLEEQCVDALQAQGFPRSQISTESFLHLRYQGTDCALMVSAHQHPATA
RSPRAGDFGAAFVERYMREFGFVIPERPVVVDDVRVRGTGRSGLRLEDAPKAQTGPPRVD
KMTQCYFEGGYQETPVYLLAELGYGHKLHGPCLIIDSNSTILVEPGCQAEVTKTGDICIS
VGAEVPGTVGPQLDPIQLSIFSHRFMSIAEQMGRILQRTAISTNIKERLDFSCALFGPDG
GLVSNAPHIPVHLGAMQETVQFQIQHLGADLHPGDVLLSNHPSAGGSHLPDLTVITPVFW
PGQTRPVFYVASRGHHADIGGITPGSMPPHSTMLQQEGAVFLSFKLVQGGVFQEEAVTEA
LRAPGKVPNCSGTRNLHDNLSDLRAQVAANQKGIQLVGELIGQYGLDVVQAYMGHIQANA
ELAVRDMLRAFGTSRQARGLPLEVSSEDHMDDGSPIRLRVQISLSQGSAVFDFSGTGPEV
FGNLNAPRAVTLSALIYCLRCLVGRDIPLNQGCLAPVRVVIPRGSILDPSPEAAVVGGNV
LTSQRVVDVILGAFGACAASQGCMNNVTLGNAHMGYYETVAGGAGAGPSWHGRSGVHSHM
TNTRITDPEILESRYPVILRRFELRRGSGGRGRFRGGDGVTRELLFREEALLSVLTERRA
FRPYGLHGGEPGARGLNLLIRKNGRTVNLGGKTSVTVYPGDVFCLHTPGGGGYGDPEDPA
PPPGSPPQALAFPEHGSVYEYRRAQEAV
Sequence length 1288
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Glutathione metabolism
Metabolic pathways 		  Glutathione synthesis and recycling
Defective OPLAH causes 5-oxoprolinase deficiency (OPLAHD)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
403
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
5-Oxoprolinase deficiency Pathogenic; Likely pathogenic rs781977956, rs782750497, rs1554759918, rs782331682, rs539275646, rs1292344717, rs1554760412, rs2540242461, rs199718844, rs2540247952, rs1835460763, rs1835478520, rs2540262850, rs2129776234, rs2540240013
View all (7 more)		 RCV001535936
RCV001535852
RCV001782551
RCV001959078
RCV003989490
RCV002637201
RCV002899584
RCV003135522
RCV003486334
RCV003486335
RCV003527953
RCV003643101
RCV003644020
RCV003644477
RCV003871183
RCV004595018
RCV000024129
RCV000032835
RCV000693697
RCV001061849
RCV001068400
RCV001227899
OPLAH-related disorder Likely pathogenic rs1554757924, rs1430134820 RCV003399670
RCV003971494
Show/Hide Unknown Diseases (13)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign; Benign rs562417499, rs541135459 RCV005921244
RCV005906059
Colon adenocarcinoma Benign rs117057524 RCV005914400
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs782661396 RCV004557854
Familial cancer of breast Benign; Likely benign rs145866799 RCV005926412
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Squamous Cell Associate 37400143
Colorectal Neoplasms Associate 23867710, 32380793
Colorectal Neoplasms Hereditary Nonpolyposis Associate 33350853
Esophageal Squamous Cell Carcinoma Associate 37400143
Eunuchism Associate 35663320
Infertility Associate 35663320
Neoplasms Associate 33350853
Obesity Associate 27421018
Polycystic Ovary Syndrome Stimulate 36322230
Virilism Associate 35663320