{ "uniprot_canonical_ac": "O14841-1", "uniprot_ac": "O14841", "uniprot_id": "OPLA_HUMAN", "mass": { "chemical_mass": 137457.0, "monoisotopic_mass": 137457.0 }, "refseq": { "ac": "NP_060040", "name": "5-oxoprolinase", "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].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040" }, "gene_names": [ { "name": "OPLAH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14841", "id": "O14841" }, { "name": "5-Opase; OPLA; OPLAHD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040", "id": "NP_060040" }, { "name": "OPLAH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040", "id": "NP_060040" } ], "protein_names": [ { "name": "5-oxoprolinase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14841" }, { "name": "3.5.2.9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14841" }, { "name": "5-OPase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14841" }, { "name": "5-oxo-L-prolinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14841" }, { "name": "5-oxoprolinase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040", "id": "NP_060040" }, { "name": "Pyroglutamase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14841" }, { "name": "pyroglutamase; 5-oxo-L-prolinase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040", "id": "NP_060040" } ], "function": [ { "annotation": "An autosomal recessive mode of inheritance for 5-oxoprolinase deficiency is further supported by the identification of a single mutation in all 9/14 parent sample sets investigated (except for the father of one patient whose result suggests homozygosity), and the absence of 5-oxoprolinuria in all tested heterozygotes", "evidence": [ { "database": "RefSeq", "id": "NP_060040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040" }, { "database": "PubMed", "id": "27477828", "url": "https://glygen.org/publication/PubMed/27477828" } ] }, { "annotation": "Catalyzes the cleavage of 5-oxo-L-proline to form L-glutamate coupled to the hydrolysis of ATP to ADP and inorganic phosphate.", "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841#function" }, { "database": "UniProtKB", "id": "Q75WB5", "url": "https://www.uniprot.org/uniprot/Q75WB5#function" } ] }, { "annotation": "In this study, clinical, biochemical, and genetic aspects of five Chinese 5-oxoprolinuria patients with OPLAH or GSS gene mutations were investigated.", "evidence": [ { "database": "RefSeq", "id": "NP_060040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040" }, { "database": "PubMed", "id": "25851806", "url": "https://glygen.org/publication/PubMed/25851806" } ] }, { "annotation": "The cause of cellular ATP depletion in nephrotic cystinosis may be the futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase", "evidence": [ { "database": "RefSeq", "id": "NP_060040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040" }, { "database": "PubMed", "id": "20413906", "url": "https://glygen.org/publication/PubMed/20413906" } ] }, { "annotation": "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].", "evidence": [ { "database": "RefSeq", "id": "NP_060040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040" } ] } ], "disease": [ { "disease_id": "MONDO:0009825", "recommended_name": { "id": "MONDO:0009825", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009825", "name": "5-oxoprolinase deficiency", "description": "5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria." }, "synonyms": [ { "id": "MONDO:0009825", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009825", "name": "5-oxoprolinase deficiency", "description": "" }, { "id": "MONDO:0009825", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009825", "name": "5-oxoprolinase deficiency (disease)", "description": "" }, { "id": "MONDO:0009825", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009825", "name": "inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder", "description": "" }, { "id": "MONDO:0009825", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009825", "name": "inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity", "description": "" }, { "id": "MONDO:0009825", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009825", "name": "oxoprolinuria due to oxoprolinase deficiency", "description": "" }, { "id": "MONDO:0009825", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009825", "name": "rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity", "description": "" }, { "id": "MONDO:0009825", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009825", "name": "5-alpha-oxoprolinase deficiency", "description": "" }, { "id": "MONDO:0009825", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009825", "name": "OPLAHD", "description": "" }, { "id": "MONDO:0009825", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009825", "name": "oxoprolinuria due to 5-oxoprolinase deficiency", "description": "" }, { "id": "MIM:260005", "resource": "MIM", "url": "https://www.omim.org/entry/260005", "name": "5-oxoprolinase deficiency", "description": "5-oxoprolinase deficiency" } ], "evidence": [ { "id": "260005", "database": "MIM", "url": "https://www.omim.org/entry/260005" } ] } ], "snv": [ { "evidence": [ { "id": "rs782278121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782278121" }, { "id": "rs782278121", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782278121" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1012, "end_pos": 1012, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "8", "chr_pos": "144052885", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1012", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554758029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554758029" }, { "id": "rs1554758029", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1554758029" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1025, "end_pos": 1025, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "8", "chr_pos": "144052845", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1025", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1028738335", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1028738335" }, { "id": "rs1028738335", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1028738335" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1027, "end_pos": 1027, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "8", "chr_pos": "144052840", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1027", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1220840561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1220840561" }, { "id": "rs1220840561", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1220840561#frequency_tab" }, { "id": "rs1220840561", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1220840561" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1141, "end_pos": 1141, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TNT->NNT).", "chr_id": "8", "chr_pos": "144052208", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1141", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554757839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554757839" }, { "id": "rs1554757839", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1554757839" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1146, "end_pos": 1146, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).", "chr_id": "8", "chr_pos": "144052193", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1146", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782491462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782491462" }, { "id": "rs782491462", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782491462" }, { "id": "rs782491462", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782491462" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 17, "end_pos": 17, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFT->NFT).", "chr_id": "8", "chr_pos": "144059983", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T17", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554759962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554759962" }, { "id": "rs1554759962", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1554759962" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 281, "end_pos": 281, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SGS->NGS).", "chr_id": "8", "chr_pos": "144058346", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782695188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782695188" }, { "id": "rs782695188", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782695188" }, { "id": "rs782695188", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782695188" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 417, "end_pos": 417, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "8", "chr_pos": "144057621", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P417", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554759623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554759623" }, { "id": "rs1554759623", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1554759623" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 442, "end_pos": 442, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGP->NGS).", "chr_id": "8", "chr_pos": "144057546", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P442", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554759081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554759081" }, { "id": "rs1554759081", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1554759081" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 661, "end_pos": 661, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KMT->NMT).", "chr_id": "8", "chr_pos": "144056385", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K661", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs782058586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782058586" }, { "id": "rs782058586", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782058586" }, { "id": "rs782058586", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782058586" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 770, "end_pos": 770, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DFS->NFS).", "chr_id": "8", "chr_pos": "144055130", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D770", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1157374250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1157374250" }, { "id": "rs1157374250", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1157374250#frequency_tab" }, { "id": "rs1157374250", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1157374250" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 787, "end_pos": 787, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAP->NAS).", "chr_id": "8", "chr_pos": "144055079", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P787", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373594376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373594376" }, { "id": "rs373594376", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373594376" }, { "id": "rs373594376", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373594376#frequency_tab" }, { "id": "rs373594376", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs373594376" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 822, "end_pos": 822, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NHP->NHS).", "chr_id": "8", "chr_pos": "144054859", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P822", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs539582965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539582965" }, { "id": "rs539582965", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs539582965" }, { "id": "rs539582965", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs539582965" }, { "id": "rs539582965", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs539582965#frequency_tab" }, { "id": "rs539582965", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs539582965" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 870, "end_pos": 870, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HST->NST).", "chr_id": "8", "chr_pos": "144054639", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.001797", "site_lbl": "H870", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178814" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "67.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178814" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178814" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000178814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178814" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178814" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "72.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178814" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "53.36", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000178814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178814" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "65.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178814" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "77.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178814" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000178814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178814" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178814", "url": 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14841", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14841" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14841" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O14841", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14841" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O14841", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14841" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841" } ], "common_name": "Human" } ], "gene": [ { "name": "OPLAH", "url": "https://www.uniprot.org/uniprot/O14841", "locus": { "chromosome": "8", "start_pos": 144051266, "end_pos": 144063965, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000178814", "url": "https://www.ensembl.org/id/ENSG00000178814" } ] } } ], "crossref": [ { "id": "ENSG00000178814", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178814", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "3.5.2.9", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=3.5.2.9&UniProtAcc=O14841", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "OPLAH", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=OPLAH", "database": 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Classification" ] }, { "id": "PF05378", "url": "http://pfam.xfam.org/family/PF05378", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF15058", "url": "http://pfam.xfam.org/family/PF15058", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19278", "url": "http://pfam.xfam.org/family/PF19278", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14841", "url": "https://pharos.nih.gov/targets/O14841", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14841", "url": "http://purl.obolibrary.org/obo/PR_O14841", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5578998", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578998", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_060040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "10348", "url": "https://www.rhea-db.org/rhea/10348", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A087WY99", "url": "https://www.uniprot.org/uniprot/A0A087WY99", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087WY99-1", "url": "https://www.uniprot.org/uniprot/A0A087WY99-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14841-1", "url": "https://www.uniprot.org/uniprot/O14841-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGSPEGRFHFAIDRGGTFTDVFAQCPGGHVRVLKLLSEDPANYADAPTEGIRRILEQEAGMLLPRDQPLDSSHIASIRMGTTVATNALLERKGERVALLVTRGFRDLLHIGTQARGDLFDLAVPMPEVLYEEVLEVDERVVLHRGEAGTGTPVKGRTGDLLEVQQPVDLGALRGKLEGLLSRGIRSLAVVLMHSYTWAQHEQQVGVLARELGFTHVSLSSEAMPMVRIVPRGHTACADAYLTPAIQRYVQGFCRGFQGQLKDVQVLFMRSDGGLAPMDTFSGSSAVLSGPAGGVVGYSATTYQQEGGQPVIGFDMGGTSTDVSRYAGEFEHVFEASTAGVTLQAPQLDINTVAAGGGSRLFFRSGLFVVGPESAGAHPGPACYRKGGPVTVTDANLVLGRLLPASFPCIFGPGENQPLSPEASRKALEAVATEVNSFLTNGPCPASPLSLEEVAMGFVRVANEAMCRPIRALTQARGHDPSAHVLACFGGAGGQHACAIARALGMDTVHIHRHSGLLSALGLALADVVHEAQEPCSLLYAPETFVQLDQRLSRLEEQCVDALQAQGFPRSQISTESFLHLRYQGTDCALMVSAHQHPATARSPRAGDFGAAFVERYMREFGFVIPERPVVVDDVRVRGTGRSGLRLEDAPKAQTGPPRVDKMTQCYFEGGYQETPVYLLAELGYGHKLHGPCLIIDSNSTILVEPGCQAEVTKTGDICISVGAEVPGTVGPQLDPIQLSIFSHRFMSIAEQMGRILQRTAISTNIKERLDFSCALFGPDGGLVSNAPHIPVHLGAMQETVQFQIQHLGADLHPGDVLLSNHPSAGGSHLPDLTVITPVFWPGQTRPVFYVASRGHHADIGGITPGSMPPHSTMLQQEGAVFLSFKLVQGGVFQEEAVTEALRAPGKVPNCSGTRNLHDNLSDLRAQVAANQKGIQLVGELIGQYGLDVVQAYMGHIQANAELAVRDMLRAFGTSRQARGLPLEVSSEDHMDDGSPIRLRVQISLSQGSAVFDFSGTGPEVFGNLNAPRAVTLSALIYCLRCLVGRDIPLNQGCLAPVRVVIPRGSILDPSPEAAVVGGNVLTSQRVVDVILGAFGACAASQGCMNNVTLGNAHMGYYETVAGGAGAGPSWHGRSGVHSHMTNTRITDPEILESRYPVILRRFELRRGSGGRGRFRGGDGVTRELLFREEALLSVLTERRAFRPYGLHGGEPGARGLNLLIRKNGRTVNLGGKTSVTVYPGDVFCLHTPGGGGYGDPEDPAPPPGSPPQALAFPEHGSVYEYRRAQEAV", "length": 1288, "header": "sp|O14841-1|OPLA_HUMAN Isoform 1 of 5-oxoprolinase OS=Homo sapiens OX=9606 GN=OPLAH PE=1 SV=3 CANONICAL=O14841-1" }, "isoforms": [ { "isoform_ac": "A0A087WY99-1", "url": "", "sequence": { "sequence": "MSLLSSYEGLRQEIQRLAQENEELRRLVQLIQENQELKLVLRNRGSSLGFCSSGFLAEVAASPWLPRRRTIKFKNAERVFPGLPAEELLWDSSPTTMGSPEGRFHFAIDRGGTFTDVFAQCPGGHVRVLKLLSEDPANYADAPTEGIRRILEQEAGMLLPRDQPLDSSHIASIRMGTTVATNALLERKGERVALLVTRGFRDLLHIGTQARGDLFDLAVPMPEVLYEEVLEVDERVVLHRGEAGTGTPVKGRT", "length": 253, "header": "tr|A0A087WY99-1|A0A087WY99_HUMAN Computationally mapped isoform of 5-oxoprolinase, ATP-hydrolysing OS=Homo sapiens OX=9606 GN=OPLAH PE=1 SV=6 CANONICAL=O14841-1" }, "locus": { "chromosome": "8", "start_pos": 144063934, "end_pos": 144058889, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000567871.2", "url": "https://www.ensembl.org/id/ENST00000567871.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000481640.2", "url": "https://www.ensembl.org/id/ENSP00000481640.2" } ] } }, { "isoform_ac": "O14841-1", "url": "", "sequence": { "sequence": "MGSPEGRFHFAIDRGGTFTDVFAQCPGGHVRVLKLLSEDPANYADAPTEGIRRILEQEAGMLLPRDQPLDSSHIASIRMGTTVATNALLERKGERVALLVTRGFRDLLHIGTQARGDLFDLAVPMPEVLYEEVLEVDERVVLHRGEAGTGTPVKGRTGDLLEVQQPVDLGALRGKLEGLLSRGIRSLAVVLMHSYTWAQHEQQVGVLARELGFTHVSLSSEAMPMVRIVPRGHTACADAYLTPAIQRYVQGFCRGFQGQLKDVQVLFMRSDGGLAPMDTFSGSSAVLSGPAGGVVGYSATTYQQEGGQPVIGFDMGGTSTDVSRYAGEFEHVFEASTAGVTLQAPQLDINTVAAGGGSRLFFRSGLFVVGPESAGAHPGPACYRKGGPVTVTDANLVLGRLLPASFPCIFGPGENQPLSPEASRKALEAVATEVNSFLTNGPCPASPLSLEEVAMGFVRVANEAMCRPIRALTQARGHDPSAHVLACFGGAGGQHACAIARALGMDTVHIHRHSGLLSALGLALADVVHEAQEPCSLLYAPETFVQLDQRLSRLEEQCVDALQAQGFPRSQISTESFLHLRYQGTDCALMVSAHQHPATARSPRAGDFGAAFVERYMREFGFVIPERPVVVDDVRVRGTGRSGLRLEDAPKAQTGPPRVDKMTQCYFEGGYQETPVYLLAELGYGHKLHGPCLIIDSNSTILVEPGCQAEVTKTGDICISVGAEVPGTVGPQLDPIQLSIFSHRFMSIAEQMGRILQRTAISTNIKERLDFSCALFGPDGGLVSNAPHIPVHLGAMQETVQFQIQHLGADLHPGDVLLSNHPSAGGSHLPDLTVITPVFWPGQTRPVFYVASRGHHADIGGITPGSMPPHSTMLQQEGAVFLSFKLVQGGVFQEEAVTEALRAPGKVPNCSGTRNLHDNLSDLRAQVAANQKGIQLVGELIGQYGLDVVQAYMGHIQANAELAVRDMLRAFGTSRQARGLPLEVSSEDHMDDGSPIRLRVQISLSQGSAVFDFSGTGPEVFGNLNAPRAVTLSALIYCLRCLVGRDIPLNQGCLAPVRVVIPRGSILDPSPEAAVVGGNVLTSQRVVDVILGAFGACAASQGCMNNVTLGNAHMGYYETVAGGAGAGPSWHGRSGVHSHMTNTRITDPEILESRYPVILRRFELRRGSGGRGRFRGGDGVTRELLFREEALLSVLTERRAFRPYGLHGGEPGARGLNLLIRKNGRTVNLGGKTSVTVYPGDVFCLHTPGGGGYGDPEDPAPPPGSPPQALAFPEHGSVYEYRRAQEAV", "length": 1288, "header": "sp|O14841-1|OPLA_HUMAN Isoform 1 of 5-oxoprolinase OS=Homo sapiens OX=9606 GN=OPLAH PE=1 SV=3 CANONICAL=O14841-1" }, "locus": { "chromosome": "8", "start_pos": 144060032, "end_pos": 144051329, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000618853.5", "url": "https://www.ensembl.org/id/ENST00000618853.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000480476.1", "url": "https://www.ensembl.org/id/ENSP00000480476.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1146, "start_aa": "Thr", "end_pos": 1146, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1146", "evidence": [ { "id": "O14841", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14841" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "30397120", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30397120" }, { "id": "O14841", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O14841" } ] } ], "phosphorylation": [ { "start_pos": 1065, "end_pos": 1065, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14841", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14841" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1065" }, { "start_pos": 1265, "end_pos": 1265, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841" } ], "site_lbl": "Ser1265" }, { "start_pos": 151, "end_pos": 151, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O14841", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14841" } ], "site_lbl": "Thr151" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular basis of glutathione synthetase deficiency and a rare gene permutation event.", "journal": "The EMBO journal", "date": "1999", "authors": "Polekhina G, Board PG, Gali RR, Rossjohn J, Parker MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "10369661", "url": "https://glygen.org/publication/PubMed/10369661" } ] }, { "title": "Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Teufel M, Saudek V, Ledig JP, Bernhardt A, Boularand S, Carreau A, Cairns NJ, Carter C, Cowley DJ, Duverger D, Ganzhorn AJ, Guenet C, Heintzelmann B, Laucher V, Sauvage C, Smirnova T", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "12473676", "url": "https://glygen.org/publication/PubMed/12473676" } ] }, { "title": "Bovine 5-oxo-L-prolinase: simple assay method, purification, cDNA cloning, and detection of mRNA in the coronary artery.", "journal": "Biol. Pharm. Bull.", "date": "2004", "authors": "Watanabe T, Abe K, Ishikawa H, Iijima Y", "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841" } ], "reference": [ { "type": "PubMed", "id": "14993790", "url": "https://glygen.org/publication/PubMed/14993790" } ] }, { "title": "Kinetic characterization and identification of the acylation and glycosylation sites of recombinant human gamma-glutamyltranspeptidase.", "journal": "Biochemistry", "date": "2007", "authors": "Castonguay R, Halim D, Morin M, Furtos A, Lherbet C, Bonneil E, Thibault P, Keillor JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "17924658", "url": "https://glygen.org/publication/PubMed/17924658" } ] }, { "title": "The human gamma-glutamyltransferase gene family.", "journal": "Human genetics", "date": "2008", "authors": "Heisterkamp N, Groffen J, Warburton D, Sneddon TP", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "18357469", "url": "https://glygen.org/publication/PubMed/18357469" } ] }, { "title": "The identification and structural characterization of C7orf24 as gamma-glutamyl cyclotransferase. An essential enzyme in the gamma-glutamyl cycle.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Oakley AJ, Yamada T, Liu D, Coggan M, Clark AG, Board PG", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "18515354", "url": "https://glygen.org/publication/PubMed/18515354" } ] }, { "title": "CHAC1/MGC4504 is a novel proapoptotic component of the unfolded protein response, downstream of the ATF4-ATF3-CHOP cascade.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "2009", "authors": "Mungrue IN, Pagnon J, Kohannim O, Gargalovic PS, Lusis AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "19109178", "url": "https://glygen.org/publication/PubMed/19109178" } ] }, { "title": "Human kidney gamma-glutamyl transpeptidase. Catalytic properties, subunit structure, and localization of the gamma-glutamyl binding site on the light subunit.", "journal": "The Journal of biological chemistry", "date": "1977", "authors": "Tate SS, Ross ME", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "19463", "url": "https://glygen.org/publication/PubMed/19463" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O14841", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14841" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "A futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis?", "journal": "Journal of biosciences", "date": "2010", "authors": "Kumar A, Bachhawat AK", "evidence": [ { "database": "RefSeq", "id": "NP_060040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060040" } ], "reference": [ { "type": "PubMed", "id": "20413906", "url": "https://glygen.org/publication/PubMed/20413906" } ] }, { "title": "5-Oxoprolinase deficiency: report of the first human OPLAH mutation.", "journal": "Clin. Genet.", "date": "2012", "authors": "Almaghlouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS", "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841" }, { "database": "Reactome", "id": "R-HSA-5578998", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5578998" } ], "reference": [ { "type": "PubMed", "id": "21651516", "url": "https://glygen.org/publication/PubMed/21651516" } ] }, { "title": "Autocatalytic cleavage of human gamma-glutamyl transpeptidase is highly dependent on N-glycosylation at asparagine 95.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "West MB, Wickham S, Quinalty LM, Pavlovicz RE, Li C, Hanigan MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "21712391", "url": "https://glygen.org/publication/PubMed/21712391" } ] }, { "title": 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levels for heavy and light subunits in human normal tissues.", "journal": "Biochemical and biophysical research communications", "date": "1995", "authors": "Gipp JJ, Bailey HH, Mulcahy RT", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "7826375", "url": "https://glygen.org/publication/PubMed/7826375" } ] }, { "title": "Immunohistochemical detection of gamma-glutamyl transpeptidase in normal human tissue.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "1996", "authors": "Hanigan MH, Frierson HF Jr", "evidence": [ { "database": "Reactome", "id": "R-HSA-174403", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-174403" } ], "reference": [ { "type": "PubMed", "id": "8813074", "url": "https://glygen.org/publication/PubMed/8813074" } ] }, { "title": "Hydrolysis and transfer reactions 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"length": 1288 }, "evidence": [ { "id": "45928705", "url": "http://www.informatics.jax.org/homology/45928705", "database": "MGI" }, { "id": "O14841", "url": "https://omabrowser.org/oma/group/O14841/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9W247-1", "protein_name": "RH09675p", "gene_name": "Dmel\\CG4752", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MSGTKYCFAIDRGGTFTDVLCICPNGKVRTMKLLSEDPERYSDAPREGIRRILKEETGEDLAASGLVDTSKIGWVRMGTTVATNALLERKGDPVVLVVNSGFRDLLYIGNQARPKIFDLNIRKPANLYKSVVEVDCRIVPKQADRCELNHSWKELEGVAGTKYLEVRPVDEVAVRQALSDARDQGVSSVSVVLAHSYACPEHELRVGAIARELGFSHVTLSHQAMPMCRVVARGYTACAEAYLTPHVDRYLASFKSGFDKQLEGVDVLFMQSDGGLTNMENFRGARAILSGPAGGVVGYALTGARETELPLIGFDMGGTSTDVSRYAGTYEHVIESTTAGVTIQAPQLDINTVAAGGGSRLFFRSGIFVVGPESAGSHPGPACYKKGGPLTVTDANLILGRILPQYFPKIFGPQENEPLDHEIARSKFVELQAEINNYLKSSGDNRVLSVEDVALGFIRVANETMCRPIRALTQSRGLDTANHVLSCFGGAGGQHACSIARNLGIAKVVVHKYAGILSAYGMALADVVQEFQEPNGLEFSDANAQQLKERLDALSKQCQDKLSEQGFKRIELEPFLHLRYEGTDGALMVAPSTGKQSSDSNPLLAAYGDFHATFLERYRTEFGFVLQNRRIIVDDIRIRGLGKNETPPESKVQAAAEAKPPAEANTRLYFDQGAFDSPIYLTKNLLAGHRITGPAVLIDQLSTIVVEPECGIQVTQFGDLIMDVKTGGKHGINADLDPVHLSIFSHRFMSIAEQMGRVLQRTSISTNIKERLDFSCALFGPDGGLVSNAPHIPVHLGAMQETVQYQLRVRGETLKNGDVILANHPSAGGSHLPDLTVITPVFYETHPRPVFFVASRGHHADIGGITPGSMPPHSTSLAQEGAAFKSFLIVENGLFQEQQIIEQLTTPTAAKGAVGTRNLSDNLSDLKAQIAANHKGIQLVAELIGSYGLDVVQAYMSHIQKNAELAVRDMLRQIGRDTLERTGSTVLEAKEFMDDGSPIALKVTIDAEQGSALCDFTGSGVEVWGNCNAPRAITLSALIYCLRCMVGHDVPLNQGCLAPIQVIIPKNSILDPSEGAAVVGGNVQTSQRIVDTVLKAFGVCAASQGCMNNITIGDESWGYYETVAGGAGAGPGWHGAGGVHTHMTNTRITDPEILELRYPMILKRFCLRTDGSGGRGQFHGGEGVERDLLFRKPVTLSVLTERRTLQPYGLAGGESGKSGRNLVVKRDGRVIALAGKTCIDVEAGDTFAMKTPGGGGYGPIEDFSKSGESLNQETSKRYVERGTVFNYLQCQESA", "length": 1294 }, "evidence": [ { "id": "O14841", "url": "https://omabrowser.org/oma/group/O14841/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841" } ], "pmid": "" }, { "name": "5-oxoprolinase (ATP-hydrolyzing) activity", "id": "GO:0017168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017168", "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "O14841", "url": "https://www.uniprot.org/uniprot/O14841" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1106, "end_pos": 1108, "annotation": "n_glycosylation_sequon" }, { "start_pos": 698, "end_pos": 700, "annotation": "n_glycosylation_sequon" }, { "start_pos": 909, "end_pos": 911, "annotation": "n_glycosylation_sequon" }, { "start_pos": 919, "end_pos": 921, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "10348", "name": "", "equation": "5-oxo-L-proline + ATP + 2 H2O = ADP + H(+) + L-glutamate + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P97608-1", "O14841-1", "Q8K010-1", "P28273-1", "Q54NW6-1" ], "evidence": [ { "id": "10348", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/10348" } ] }, { "id": "R-HSA-1247935", "name": "OPLAH hydrolyses OPRO to L-Glu", "equation": "", "summary": "5-oxoprolinase catalyzes the cleavage of 5-oxoproline to form L-glutamate, coupled to the hydrolysis of ATP to ADP and inorganic phosphate (Chen et al, 1998).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14841-1" ], "evidence": [ { "id": "R-HSA-1247935", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1247935" } ] }, { "id": "R-HSA-5603208", "name": "Defective OPLAH does not hydrolyse OPRO", "equation": "", "summary": "The gamma-glutamyl cycle is a six-enzyme cycle that represents the primary pathway for glutathione synthesis and degradation. One step is the cleavage of 5-oxo-L-proline (OPRO) to form L-glutamate, coupled to the hydrolysis of ATP. This is catalysed by 5-oxoprolinase (OPLAH) is a homodimeric, cytosolic protein. Defects in OPLAH can cause 5-oxoprolinase deficiency (OPLAHD; MIM:260005), an extremely rare disorder of the gamma-glutamyl cycle about which debate continues as to whether it is a disorder or just a biochemical condition with no adverse clinical effects apart from 5-oxoprolinuria. Mutations that can cause OPLAHD are S323R, V1089I and H870Pfs*92 (Calpena et al. 2013, Almaghlouth et al. 2012).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14841-1" ], "evidence": [ { "id": "R-HSA-5603208", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5603208" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "O14841", "gene_name": "OPLAH", "activity": [ { "ec_number": "3.5.2.9", "activity": "5-oxo-L-proline + ATP + 2 H2O = ADP + H(+) + L-glutamate + phosphate.", "evidence": [ { "id": "O14841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14841" } ] }, { "ec_number": "3.5.2.9", "activity": "", "evidence": [ { "id": "O14841", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14841" } ] } ] }, { "uniprot_ac": "P28273", "gene_name": "OXP1", "activity": [ { "ec_number": "3.5.2.9", "activity": "5-oxo-L-proline + ATP + 2 H2O = ADP + H(+) + L-glutamate + phosphate.", "evidence": [ { "id": "P28273", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28273" } ] }, { "ec_number": "3.5.2.9", "activity": "", "evidence": [ { "id": "P28273", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28273" } ] } ] }, { "uniprot_ac": "P97608", "gene_name": "Oplah", "activity": [ { "ec_number": "3.5.2.9", "activity": "5-oxo-L-proline + ATP + 2 H2O = ADP + H(+) + L-glutamate + phosphate.", "evidence": [ { "id": "P97608", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97608" } ] }, { "ec_number": "3.5.2.9", "activity": "", "evidence": [ { "id": "P97608", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P97608" } ] } ] }, { "uniprot_ac": "Q54NW6", "gene_name": "oplah", "activity": [ { "ec_number": "3.5.2.9", "activity": "5-oxo-L-proline + ATP + 2 H2O = ADP + H(+) + L-glutamate + phosphate.", "evidence": [ { "id": "Q54NW6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54NW6" } ] }, { "ec_number": "3.5.2.9", "activity": "", "evidence": [ { "id": "Q54NW6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54NW6" } ] } ] }, { "uniprot_ac": "Q8K010", "gene_name": "Oplah", "activity": [ { "ec_number": "3.5.2.9", "activity": "5-oxo-L-proline + ATP + 2 H2O = ADP + H(+) + L-glutamate + phosphate.", "evidence": [ { "id": "Q8K010", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K010" } ] }, { "ec_number": "3.5.2.9", "activity": "", "evidence": [ { "id": "Q8K010", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8K010" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 1146 ], "snv_sites": [ 17, 281, 417, 442, 661, 770, 787, 822, 870, 1012, 1025, 1027, 1141, 1146 ], "glycation_sites": [], "phosphorylation_sites": [ 151, 1065, 1265 ], "sequon_annotation_sites": [ { "start_pos": 1106, "end_pos": 1108 }, { "start_pos": 698, "end_pos": 700 }, { "start_pos": 909, "end_pos": 911 }, { "start_pos": 919, "end_pos": 921 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": 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"sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 14 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 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