{ "uniprot_canonical_ac": "O00391-1", "uniprot_ac": "O00391", "uniprot_id": "QSOX1_HUMAN", "mass": { "chemical_mass": 82578.0, "monoisotopic_mass": 82578.0 }, "refseq": { "ac": "NP_001004128", "name": "sulfhydryl oxidase 1 isoform b precursor", "summary": "This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128" }, "gene_names": [ { "name": "QSOX1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00391", "id": "O00391" }, { "name": "PRO6013", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00391", "id": "O00391" }, { "name": "Q6; QSCN6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128", "id": "NP_001004128" }, { "name": "QSCN6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00391", "id": "O00391" }, { "name": "QSOX1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128", "id": "NP_001004128" } ], "protein_names": [ { "name": "Sulfhydryl oxidase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00391" }, { "name": "1.8.3.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00391" }, { "name": "Quiescin Q6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00391" }, { "name": "hQSOX", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00391" }, { "name": "sulfhydryl oxidase 1 isoform b precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128", "id": "NP_001004128" }, { "name": "sulfhydryl oxidase 1; quiescin Q6 sulfhydryl oxidase 1; thiol oxidase 1; testis tissue sperm-binding protein Li 62n", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128", "id": "NP_001004128" } ], "function": [ { "annotation": "Aberrant m5C hypermethylation mediates intrinsic resistance to gefitinib through NSUN2/YBX1/QSOX1 axis in EGFR-mutant non-small-cell lung cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001004128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128" }, { "database": "PubMed", "id": "37161388", "url": "https://glygen.org/publication/PubMed/37161388" } ] }, { "annotation": "Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide (PubMed:17331072, PubMed:18393449, PubMed:23704371, PubMed:30367560, PubMed:23867277). Plays a role in disulfide bond formation in a variety of extracellular proteins (PubMed:17331072, PubMed:30367560, PubMed:22801504, PubMed:23867277). In fibroblasts, required for normal incorporation of laminin into the extracellular matrix, and thereby for normal cell-cell adhesion and cell migration (PubMed:23704371, PubMed:30367560, PubMed:23867277).", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391#function" }, { "database": "PubMed", "id": "18393449", "url": "https://glygen.org/publication/PubMed/18393449" }, { "database": "PubMed", "id": "17331072", "url": "https://glygen.org/publication/PubMed/17331072" }, { "database": "PubMed", "id": "23867277", "url": "https://glygen.org/publication/PubMed/23867277" }, { "database": "PubMed", "id": "22801504", "url": "https://glygen.org/publication/PubMed/22801504" }, { "database": "PubMed", "id": "23704371", "url": "https://glygen.org/publication/PubMed/23704371" }, { "database": "PubMed", "id": "30367560", "url": "https://glygen.org/publication/PubMed/30367560" } ] }, { "annotation": "Mutation of a conserved cis-proline amino acid, analogous to a mutation used to trap substrates of a bacterial disulfide catalyst, has a dramatic effect on the physiological function of the mammalian disulfide catalyst QSOX1.", "evidence": [ { "database": "RefSeq", "id": "NP_001004128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128" }, { "database": "PubMed", "id": "30367560", "url": "https://glygen.org/publication/PubMed/30367560" } ] }, { "annotation": "QSOX1 might be a lung cancer tissue-derived biomarker and be involved in the promotion of lung cancers, and thus can be a therapeutic target for lung cancers. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001004128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128" }, { "database": "PubMed", "id": "30336636", "url": "https://glygen.org/publication/PubMed/30336636" } ] }, { "annotation": "QSOX1 promotes mitochondrial apoptosis of hepatocellular carcinoma cells during anchorage-independent growth by inhibiting lipid synthesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001004128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128" }, { "database": "PubMed", "id": "32863002", "url": "https://glygen.org/publication/PubMed/32863002" } ] }, { "annotation": "Quiescin sulfhydryl oxidase 1 promotes sorafenib-induced ferroptosis in hepatocellular carcinoma by driving EGFR endosomal trafficking and inhibiting NRF2 activation.", "evidence": [ { "database": "RefSeq", "id": "NP_001004128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128" }, { "database": "PubMed", "id": "33770521", "url": "https://glygen.org/publication/PubMed/33770521" } ] }, { "annotation": "This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001004128", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004128" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1421233131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1421233131" }, { "id": "rs1421233131", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1421233131" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 577, "end_pos": 577, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSA); o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "180196522", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T577", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00391", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00391" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 577, "end_pos": 577, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NST->NSN); o-glyco-site-loss (T->N).", "chr_id": "1", "chr_pos": "180196523", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "T577", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs747297302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747297302" }, { "id": "rs747297302", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747297302" }, { "id": "rs747297302", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747297302" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 593, "end_pos": 593, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTN); o-glyco-site-loss (T->N).", "chr_id": "1", "chr_pos": "180196571", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T593", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00391", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00391" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 130, "end_pos": 130, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "N", "sequence_mut": "D", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGS->DGS).", "chr_id": "1", "chr_pos": "180175342", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "N130", "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", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O00391", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00391" }, { "id": "rs770038519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770038519" }, { "id": "rs770038519", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770038519" }, { "id": "rs770038519", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770038519" }, { "id": "rs770038519", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs770038519" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 132, "end_pos": 132, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NGS->NGL).", "chr_id": "1", "chr_pos": "180175349", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S132", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] }, { "evidence": [ { "id": "rs1401958178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1401958178" }, { "id": "rs1401958178", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1401958178" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 276, "end_pos": 276, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "180183989", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T276", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs985057113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs985057113" }, { "id": "rs985057113", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs985057113#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 277, "end_pos": 277, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->A).", "chr_id": "1", "chr_pos": "180183992", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T277", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1310164754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1310164754" }, { "id": "rs1310164754", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1310164754" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 282, "end_pos": 282, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "1", "chr_pos": "180184008", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O00391", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00391" } ], "glycoeffect": [], "start_pos": 326, "end_pos": 326, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "180186142", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R326", "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", 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No effect on catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" }, { "database": "PubMed", "id": "29757379", "url": "https://glygen.org/publication/PubMed/29757379" } ] }, { "start_pos": 276, "end_pos": 282, "sequence_org": "TTVAPTT", "sequence_mut": "ANVAPVA", "comment": "Decreased O-glycosylation.", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" }, { "database": "PubMed", "id": "29757379", "url": "https://glygen.org/publication/PubMed/29757379" } ] }, { "start_pos": 449, "end_pos": 449, "sequence_org": "C", "sequence_mut": "S", "comment": "Reduces activity by 96%.", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" }, { "database": "PubMed", "id": "18393449", "url": "https://glygen.org/publication/PubMed/18393449" } ] }, { "start_pos": 452, "end_pos": 452, "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" }, { "database": "PubMed", "id": "18393449", "url": "https://glygen.org/publication/PubMed/18393449" } ] }, { "start_pos": 509, "end_pos": 509, "sequence_org": "C", "sequence_mut": "S", "comment": "No effect. Reduces activity by 70%; when associated with S-512.", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" }, { "database": "PubMed", "id": "18393449", "url": "https://glygen.org/publication/PubMed/18393449" } ] }, { "start_pos": 512, "end_pos": 512, "sequence_org": "C", "sequence_mut": "S", "comment": "Reduces activity by 40%. Reduces activity by 70%; when associated with S-509.", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" }, { "database": "PubMed", "id": "18393449", "url": "https://glygen.org/publication/PubMed/18393449" } ] }, { "start_pos": 70, "end_pos": 70, "sequence_org": "C", "sequence_mut": "S", "comment": "Reduces activity by 93%.", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" }, { "database": "PubMed", "id": "18393449", "url": "https://glygen.org/publication/PubMed/18393449" } ] }, { "start_pos": 70, "end_pos": 73, "sequence_org": "CGHC", "sequence_mut": "AGHA", "comment": "Loss of catalytic activity. Cannot prevent cell detachment after depletion of the endogenous protein.", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" }, { "database": "PubMed", "id": "23704371", "url": "https://glygen.org/publication/PubMed/23704371" }, { "database": "PubMed", "id": "30367560", "url": "https://glygen.org/publication/PubMed/30367560" } ] }, { "start_pos": 72, "end_pos": 72, "sequence_org": "H", "sequence_mut": "A", "comment": "Decreased protein stability and catalytic activity; when associated with S-119 or T-119.", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" }, { "database": "PubMed", "id": "30367560", "url": "https://glygen.org/publication/PubMed/30367560" } ] }, { "start_pos": 73, "end_pos": 73, "sequence_org": "C", "sequence_mut": "S", "comment": "Reduces activity by 93%.", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" }, { "database": "PubMed", "id": "18393449", "url": "https://glygen.org/publication/PubMed/18393449" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "82.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "95.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "84.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "96.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "96.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.99", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "94.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "89.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116260", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116260" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00391", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00391" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": 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"http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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 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"MRRCNSGSGPPPSLLLLLLWLLAVPGANAAPRSALYSPSDPLTLLQADTVRGAVLGSRSAWAVEFFASWCGHCIAFAPTWKALAEDVKAWRPALYLAALDCAEETNSAVCRDFNIPGFPTVRFFKAFTKNGSGAVFPVAGADVQTLRERLIDALESHHDTWPPACPPLEPAKLEEIDGFFARNNEEYLALIFEKGGSYLGREVALDLSQHKGVAVRRVLNTEANVVRKFGVTDFPSCYLLFRNGSVSRVPVLMESRSFYTAYLQRLSGLTREAAQTTVAPTTANKIAPTVWKLADRSKIYMADLESALHYILRIEVGRFPVLEGQRLVALKKFVAVLAKYFPGRPLVQNFLHSVNEWLKRQKRNKIPYSFFKTALDDRKEGAVLAKKVNWIGCQGSEPHFRGFPCSLWVLFHFLTVQAARQNVDHSQEAAKAKEVLPAIRGYVHYFFGCRDCASHFEQMAAASMHRVGSPNAAVLWLWSSHNRVNARLAGAPSEDPQFPKVQWPPRELCSACHNERLDVPVWDVEATLNFLKAHFSPSNIILDFPAAGSAARRDVQNVAAAPELAMGALELESRNSTLDPGKPEMMKSPTNTTPHVPAEGPEASRPPKLHPGLRAAPGQEPPEHMAELQRNEQEQPLGQWHLSKRDTGAALLAESRAEKNRLWGPLEVRRVGRSSKQLVDIPEGQLEARAGRGRGQWLQVLGGGFSYLDISLCVGLYSLSFMGLLAMYTYFQAKIRALKGHAGHPAA", "length": 747, "header": "sp|O00391-1|QSOX1_HUMAN Isoform 1 of Sulfhydryl oxidase 1 OS=Homo sapiens OX=9606 GN=QSOX1 PE=1 SV=3 CANONICAL=O00391-1" }, "isoforms": [ { "isoform_ac": "A8MXT8-1", "url": "", "sequence": { "sequence": "MRRCNSGSGPPPSLLLLLLWLLAVPGANAAPRSALYSPSDPLTLLQADTVRGAVLGSRSAWAVEFFASWCGHCIAFAPTWKALAEDVKAWRPALYLAALDCAEETNSAVCRDFNIPGFPTVRFFKAFTKNGSGAVFPGWRRLMDSLREITKSTWL", "length": 155, "header": "tr|A8MXT8-1|A8MXT8_HUMAN Computationally mapped isoform of Quiescin sulfhydryl oxidase 1 OS=Homo sapiens OX=9606 GN=QSOX1 PE=1 SV=2 CANONICAL=O00391-1" }, "locus": { "chromosome": "1", "start_pos": 180178846, "end_pos": 180154908, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392029.6", "url": "https://www.ensembl.org/id/ENST00000392029.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000375883.2", "url": "https://www.ensembl.org/id/ENSP00000375883.2" } ] } }, { "isoform_ac": "H0Y5Z8-1", "url": "", "sequence": { "sequence": "XNEQEQPLGQWHLSKRDTGAALLAESRAEKNRLWGPLEVRRVGRSSKQLVDIPEGQLEARAGRGRGQWLQLI", "length": 72, "header": "tr|H0Y5Z8-1|H0Y5Z8_HUMAN Computationally mapped isoform of Quiescin sulfhydryl oxidase 1 OS=Homo sapiens OX=9606 GN=QSOX1 PE=1 SV=1 CANONICAL=O00391-1" }, "locus": { "chromosome": "1", "start_pos": 180197339, "end_pos": 180196682, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443059.1", "url": "https://www.ensembl.org/id/ENST00000443059.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000402170.1", "url": "https://www.ensembl.org/id/ENSP00000402170.1" } ] } }, { "isoform_ac": "O00391-1", "url": "", "sequence": { "sequence": "MRRCNSGSGPPPSLLLLLLWLLAVPGANAAPRSALYSPSDPLTLLQADTVRGAVLGSRSAWAVEFFASWCGHCIAFAPTWKALAEDVKAWRPALYLAALDCAEETNSAVCRDFNIPGFPTVRFFKAFTKNGSGAVFPVAGADVQTLRERLIDALESHHDTWPPACPPLEPAKLEEIDGFFARNNEEYLALIFEKGGSYLGREVALDLSQHKGVAVRRVLNTEANVVRKFGVTDFPSCYLLFRNGSVSRVPVLMESRSFYTAYLQRLSGLTREAAQTTVAPTTANKIAPTVWKLADRSKIYMADLESALHYILRIEVGRFPVLEGQRLVALKKFVAVLAKYFPGRPLVQNFLHSVNEWLKRQKRNKIPYSFFKTALDDRKEGAVLAKKVNWIGCQGSEPHFRGFPCSLWVLFHFLTVQAARQNVDHSQEAAKAKEVLPAIRGYVHYFFGCRDCASHFEQMAAASMHRVGSPNAAVLWLWSSHNRVNARLAGAPSEDPQFPKVQWPPRELCSACHNERLDVPVWDVEATLNFLKAHFSPSNIILDFPAAGSAARRDVQNVAAAPELAMGALELESRNSTLDPGKPEMMKSPTNTTPHVPAEGPEASRPPKLHPGLRAAPGQEPPEHMAELQRNEQEQPLGQWHLSKRDTGAALLAESRAEKNRLWGPLEVRRVGRSSKQLVDIPEGQLEARAGRGRGQWLQVLGGGFSYLDISLCVGLYSLSFMGLLAMYTYFQAKIRALKGHAGHPAA", "length": 747, "header": "sp|O00391-1|QSOX1_HUMAN Isoform 1 of Sulfhydryl oxidase 1 OS=Homo sapiens OX=9606 GN=QSOX1 PE=1 SV=3 CANONICAL=O00391-1" }, "locus": { "chromosome": "1", "start_pos": 180197034, "end_pos": 180154908, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367602.8", "url": "https://www.ensembl.org/id/ENST00000367602.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000356574.3", "url": "https://www.ensembl.org/id/ENSP00000356574.3" } ] } }, { "isoform_ac": "O00391-2", "url": "", "sequence": { "sequence": "MRRCNSGSGPPPSLLLLLLWLLAVPGANAAPRSALYSPSDPLTLLQADTVRGAVLGSRSAWAVEFFASWCGHCIAFAPTWKALAEDVKAWRPALYLAALDCAEETNSAVCRDFNIPGFPTVRFFKAFTKNGSGAVFPVAGADVQTLRERLIDALESHHDTWPPACPPLEPAKLEEIDGFFARNNEEYLALIFEKGGSYLGREVALDLSQHKGVAVRRVLNTEANVVRKFGVTDFPSCYLLFRNGSVSRVPVLMESRSFYTAYLQRLSGLTREAAQTTVAPTTANKIAPTVWKLADRSKIYMADLESALHYILRIEVGRFPVLEGQRLVALKKFVAVLAKYFPGRPLVQNFLHSVNEWLKRQKRNKIPYSFFKTALDDRKEGAVLAKKVNWIGCQGSEPHFRGFPCSLWVLFHFLTVQAARQNVDHSQEAAKAKEVLPAIRGYVHYFFGCRDCASHFEQMAAASMHRVGSPNAAVLWLWSSHNRVNARLAGAPSEDPQFPKVQWPPRELCSACHNERLDVPVWDVEATLNFLKAHFSPSNIILDFPAAGSAARRDVQNVAAAPELAMGALELESRNSTLDPGKPEMMKSPTNTTPHVPAEGPELI", "length": 604, "header": "sp|O00391-2|QSOX1_HUMAN Isoform 2 of Sulfhydryl oxidase 1 OS=Homo sapiens OX=9606 GN=QSOX1 PE=1 SV=3 CANONICAL=O00391-1" }, "locus": { "chromosome": "1", "start_pos": 180197338, "end_pos": 180154908, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000367600.5", "url": "https://www.ensembl.org/id/ENST00000367600.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000356572.5", "url": "https://www.ensembl.org/id/ENSP00000356572.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G00406II", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "1774", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1774" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G08146BT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "1774", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1774" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G20312EM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "1774", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1774" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G22310AV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "1774", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1774" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "1774", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1774" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G25451PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "1774", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1774" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G42962KI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "1774", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1774" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G44215PV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "1774", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1774" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G45495MK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "1774", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1774" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "1774", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1774" }, { "id": "29391424", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29391424" } ] }, { "glytoucan_ac": "G51413EV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", "evidence": [ { "id": "1774", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1774" }, { "id": "32125861", "database": "PubMed", "url": 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growth factor-binding protein-3 (IGFBP-3) fragments and IGFBP-5 proteolytic activity in human seminal plasma: a comparison of normal and vasectomized patients.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1994", "authors": "Lee KO, Oh Y, Giudice LC, Cohen P, Peehl DM, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525634", "url": "https://glygen.org/publication/PubMed/7525634" } ] }, { "title": "Biological effects of prostate specific antigen as an insulin-like growth factor binding protein-3 protease.", "journal": "The Journal of endocrinology", "date": "1994", "authors": "Cohen P, Peehl DM, Graves HC, Rosenfeld RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7525824", "url": "https://glygen.org/publication/PubMed/7525824" } ] }, { "title": "Interactions between insulin-like growth factor-I (IGF-I) and the system of plasminogen activators and their inhibitors in the control of IGF-binding protein-3 production and proteolysis in human osteosarcoma cells.", "journal": "Endocrinology", "date": "1994", "authors": "Lalou C, Silve C, Rosato R, Segovia B, Binoux M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "7527330", "url": "https://glygen.org/publication/PubMed/7527330" } ] }, { "title": "Biochemical analysis of prostate specific antigen-proteolyzed insulin-like growth factor binding protein-3.", "journal": "Growth regulation", "date": "1994", "authors": "Fielder PJ, Rosenfeld RG, Graves HC, Grandbois K, Maack CA, Sawamura S, Ogawa Y, Sommer A, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": 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of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] }, { "title": "Measurement of insulin-like growth factor (IGF)-II binding to purified IGF binding proteins 1-6: comparison of charcoal adsorption and high performance size exclusion chromatography.", "journal": "Biochimica et biophysica acta", "date": "1996", "authors": "Bach LA, Rechler MM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381426", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381426" } ], "reference": [ { "type": "PubMed", "id": "8781553", "url": "https://glygen.org/publication/PubMed/8781553" } ] }, { "title": "Insulin-like growth factor binding protein (IGFBP) proteases: functional regulators 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"https://www.uniprot.org/uniprot/O00391" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" } ], "pmid": "" }, { "name": "specific granule lumen", "id": "GO:0035580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035580", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" } ], "pmid": "" }, { "name": "tertiary granule lumen", "id": "GO:1904724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904724", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "sulfhydryl oxidase 1 N-glycosylated 1 (human)", "definition": "A sulfhydryl oxidase 1 (human) that has been N-glycosylated at the residue equivalent to Asn-130 of the amino acid sequence represented by UniProtKB:O00391-1, in which the glycan composition is represented by GlyTouCan:G60923RB. Example: UniProtKB:O00391-1, Asn-130, MOD:00160~GNO:G60923RB. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000050632", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050632" } ] }, { "name": "sulfhydryl oxidase 1 N-glycosylated 2 (human)", "definition": "A sulfhydryl oxidase 1 (human) that has been N-glycosylated at the residue equivalent to Asn-130 of the amino acid sequence represented by UniProtKB:O00391-1, in which the glycan composition is represented by GlyTouCan:G87051GH. Example: UniProtKB:O00391-1, Asn-130, MOD:00160~GNO:G87051GH. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000050633", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050633" } ] }, { "name": "sulfhydryl oxidase 1 N-glycosylated 3 (human)", "definition": "A sulfhydryl oxidase 1 (human) that has been N-glycosylated at the residue equivalent to Asn-243 of the amino acid sequence represented by UniProtKB:O00391-1, in which the glycan composition is represented by GlyTouCan:G01650EU. Example: UniProtKB:O00391-1, Asn-243, MOD:00160~GNO:G01650EU. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050634", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050634" } ] }, { "name": "sulfhydryl oxidase 1 N-glycosylated 4 (human)", "definition": "A sulfhydryl oxidase 1 (human) that has been N-glycosylated at the residue equivalent to Asn-575 of the amino acid sequence represented by UniProtKB:O00391-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:O00391-1, Asn-575, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050635", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050635" } ] }, { "name": "sulfhydryl oxidase 1 N-glycosylated 5 (human)", "definition": "A sulfhydryl oxidase 1 (human) that has been N-glycosylated at the residue equivalent to Asn-575 of the amino acid sequence represented by UniProtKB:O00391-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:O00391-1, Asn-575, MOD:00160~GNO:G88374WZ. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000050636", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050636" } ] }, { "name": "sulfhydryl oxidase 1 O-glycosylated 1 (human)", "definition": "A sulfhydryl oxidase 1 (human) that has been O-glycosylated at the residue equivalent to Thr-592 of the amino acid sequence represented by UniProtKB:O00391-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:O00391-1, Thr-592, MOD:00005~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050637", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050637" } ] }, { "name": "sulfhydryl oxidase 1 O-glycosylated 2 (human)", "definition": "A sulfhydryl oxidase 1 (human) that has been O-glycosylated at the residue equivalent to Thr-593 of the amino acid sequence represented by UniProtKB:O00391-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O00391-1, Thr-593, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050638", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050638" } ] } ], "site_annotation": [ { "start_pos": 130, "end_pos": 132, "annotation": "n_glycosylation_sequon" }, { "start_pos": 243, "end_pos": 245, "annotation": "n_glycosylation_sequon" }, { "start_pos": 575, "end_pos": 577, "annotation": "n_glycosylation_sequon" }, { "start_pos": 591, "end_pos": 593, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated (PubMed:17331072, PubMed:29757379). O-glycosylated on Thr and Ser residues (PubMed:29757379).", "evidence": [ { "database": "UniProtKB", "id": "O00391", "url": "https://www.uniprot.org/uniprot/O00391" }, { "database": "PubMed", "id": "29757379", "url": "https://glygen.org/publication/PubMed/29757379" }, { "database": "PubMed", "id": "17331072", "url": "https://glygen.org/publication/PubMed/17331072" } ] } ], "interactions": [], "reactions": [ { "id": "17357", "name": "", "equation": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6IUU3-1", "Q63042-1", "D3ZP13-1", "P55789-1", "Q6ZRP7-1", "O00391-1", "P56213-1", "Q3TMX7-1", "Q8BND5-1", "P27882-1", "Q12284-1", "Q54R76-1", "Q54R93-1", "Q75JQ5-1", "C0PVB3-1", "Q8IMY4-1", "Q9VD62-1", "Q9VD61-1", "Q7JQR3-1" ], "evidence": [ { "id": "17357", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17357" } ] }, { "id": "R-HSA-481007", "name": "Exocytosis of platelet alpha granule contents", "equation": "", "summary": "Alpha granules contain mainly polypeptides such as fibrinogen, von Willebrand factor, growth factors and protease inhibitors that supplement thrombin generation at the site of injury. In addtion to their role in hemostasis, platelets also contain angiogenesis stimulators and inhibitors (Italiano et al. 2008).", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00747-1", "P04075-1", "Q8NBM8-1", "Q8NBX0-1", "P00746-1", "P00488-1", "O00391-1" ], "evidence": [ { "id": "R-HSA-481007", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-481007" } ] }, { "id": "R-HSA-6798745", "name": "Exocytosis of tertiary granule lumen proteins", "equation": "", "summary": "Tertiary (gelatinase) granules are part of a continuum of peroxidase-negative granules formed in myelocytes, metamyelocytes, band cells and segmented neutrophils. They differ from secondary granules by having a low content of antimicrobial substances, and are more readily exocytosed (Sengelov et al. 1995). Tertiary granules are primarily a reservoir of extracellular matrix degrading enzymes and membrane receptors that are needed for neutrophil extravasation and diapedesis (Faurschou & Borregaard 2003).", "cellular_location": "extracellular region, tertiary granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P32320-1", "Q92820-1", "Q9NQR4-1", "P36871-1", "P07339-1", "P04075-1", "P09972-1", "Q13510-1", "Q8WVQ1-1", "P29350-1", "Q13231-1", "P14780-1", "Q16769-1", "P61626-1", "P02788-1", "P02794-1", "P98066-1", "P25774-1", "Q9H8H3-1", "P09960-1", "P35030-1", "O75874-1", "P22894-1", "O00391-1" ], "evidence": [ { "id": "R-HSA-6798745", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798745" } ] }, { "id": "R-HSA-6798749", "name": "Exocytosis of specific granule lumen proteins", "equation": "", "summary": "Secondary (specific) granules are peroxidase-negative and rich in antimicrobial substances (Joiner et al. 1989, Rorvig et al. 2012). They are more irregular and elongated in form than azurophil granules (Bainton et al. 1971). This might reflect volume adjustment in azurophil granules, which are known to proteolytically process a significant fraction of the proteins that are targeted to them, while little or no processing and therefore no increase in osmotic activity due to proteolysis has been observed in secondary granules (Borregaard & Cowland 1997). Secondary and tertiary granules have overlapping contents but can be discriminated by their intrinsic buoyant densities when centrifuged on gradient media (Kjeldsen et al. 1994).", "cellular_location": "extracellular region, specific granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBR2-1", "P09110-1", "P49184-1", "Q92820-1", "Q99519-1", "P08246-1", "P51159-1", "Q9NQR4-1", "P07339-1", "P19801-1", "P05089-1", "Q8WVQ1-1", "P29350-1", "Q13231-1", "Q16769-1", "P61626-1", "P02788-1", "P42685-1", "P22894-1", "Q9Y251-1", "O00764-1", "O00391-1" ], "evidence": [ { "id": "R-HSA-6798749", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798749" } ] }, { "id": "R-HSA-8952289", "name": "FAM20C phosphorylates FAM20C substrates", "equation": "", "summary": "Extracellular serine/threonine protein kinase FAM20C is an extracellular kinase that can phosphorylate a broad range of secreted protein. FAM20C is bound and allosterically activated by the pseudokinase FAM20A (Tagliabracchi et al. 2012, 2015, Cui et al. 2015).
Loss of function mutations in Fam20C cause Raine Syndrome, an osteosclerotic bone dysplasia (Faundes et al. 2014).", "cellular_location": "endoplasmic reticulum lumen", "input_participant_list": [ "R-ALL-8931885" ], "output_participant_list": [ "R-ALL-8931884" ], "enzyme_list": [ "Q6P988-1", "P07237-1", "O14672-1", "Q8NBP7-1", "Q8IXL6-1", "P00450-1", "P04070-1", "Q9BTY2-1", "Q96AD5-1", "Q14703-1", "Q9UM21-1", "Q15084-1", "O95084-1", "O00391-1" ], "evidence": [ { "id": "R-HSA-8952289", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8952289" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-8931884", "participant_name": "ADP [endoplasmic reticulum lumen]", "crossref": [ { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" }, { "id": "C00008", "database": "COMPOUND", "url": "" }, { "id": "456216", "database": "ChEBI", "url": "" }, { "id": "000012360703", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-8931885", "participant_name": "ATP [endoplasmic reticulum lumen]", "crossref": [ { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "30616", "database": "ChEBI", "url": "" }, { "id": "000004261765", "database": "ZINC", "url": "" }, { "id": "C00002", "database": "COMPOUND", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "C0PVB3", "gene_name": "Alr", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "C0PVB3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C0PVB3" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "C0PVB3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/C0PVB3" } ] } ] }, { "uniprot_ac": "D3ZP13", "gene_name": "Qsox2", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "D3ZP13", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZP13" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "D3ZP13", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZP13" } ] } ] }, { "uniprot_ac": "O00391", "gene_name": "QSOX1", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "O00391", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00391" } ] } ] }, { "uniprot_ac": "O00764", "gene_name": "PDXK", "activity": [ { "ec_number": "2.7.1.35", "activity": "ATP + pyridoxal = ADP + H(+) + pyridoxal 5'-phosphate.", "evidence": [ { "id": "O00764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00764" } ] }, { "ec_number": "2.7.1.35", "activity": "", "evidence": [ { "id": "O00764", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00764" } ] } ] }, { "uniprot_ac": "O14672", "gene_name": "ADAM10", "activity": [ { "ec_number": "3.4.24.81", "activity": "Endopeptidase of broad specificity.", "evidence": [ { "id": "O14672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14672" } ] }, { "ec_number": "3.4.24.81", "activity": "", "evidence": [ { "id": "O14672", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14672" } ] } ] }, { "uniprot_ac": "O75874", "gene_name": "IDH1", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] } ] }, { "uniprot_ac": "O95084", "gene_name": "PRSS23", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "O95084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95084" } ] } ] }, { "uniprot_ac": "P00450", "gene_name": "CP", "activity": [ { "ec_number": "1.16.3.1", "activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.", "evidence": [ { "id": "P00450", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00450" } ] }, { "ec_number": "1.16.3.1", "activity": "", "evidence": [ { "id": "P00450", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00450" } ] } ] }, { "uniprot_ac": "P00488", "gene_name": "F13A1", "activity": [ { "ec_number": "2.3.2.13", "activity": "L-glutaminyl-[protein] + L-lysyl-[protein] = [protein]-L-lysyl-N(6)-5-L-glutamyl-[protein] + NH4(+).", "evidence": [ { "id": "P00488", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00488" } ] }, { "ec_number": "2.3.2.13", "activity": "", "evidence": [ { "id": "P00488", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00488" } ] } ] }, { "uniprot_ac": "P00746", "gene_name": "CFD", "activity": [ { "ec_number": "3.4.21.46", "activity": "Selective cleavage of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] }, { "ec_number": "3.4.21.46", "activity": "", "evidence": [ { "id": "P00746", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00746" } ] } ] }, { "uniprot_ac": "P00747", "gene_name": "PLG", "activity": [ { "ec_number": "3.4.21.7", "activity": "Preferential cleavage: Lys-|-Xaa > Arg-|-Xaa, higher selectivity than trypsin. Converts fibrin into soluble products.", "evidence": [ { "id": "P00747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00747" } ] }, { "ec_number": "3.4.21.7", "activity": "", "evidence": [ { "id": "P00747", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00747" } ] } ] }, { "uniprot_ac": "P02788", "gene_name": "LTF", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "P02788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02788" } ] } ] }, { "uniprot_ac": "P02794", "gene_name": "FTH1", "activity": [ { "ec_number": "1.16.3.1", "activity": "4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O.", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] }, { "ec_number": "1.16.3.1", "activity": "", "evidence": [ { "id": "P02794", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P02794" } ] } ] }, { "uniprot_ac": "P04070", "gene_name": "PROC", "activity": [ { "ec_number": "3.4.21.69", "activity": "Degradation of blood coagulation factors Va and VIIIa.", "evidence": [ { "id": "P04070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04070" } ] }, { "ec_number": "3.4.21.69", "activity": "", "evidence": [ { "id": "P04070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04070" } ] } ] }, { "uniprot_ac": "P04075", "gene_name": "ALDOA", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P04075", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04075" } ] } ] }, { "uniprot_ac": "P05089", "gene_name": "ARG1", "activity": [ { "ec_number": "3.5.3.1", "activity": "H2O + L-arginine = L-ornithine + urea.", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] }, { "ec_number": "3.5.3.1", "activity": "", "evidence": [ { "id": "P05089", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05089" } ] } ] }, { "uniprot_ac": "P07237", "gene_name": "P4HB", "activity": [ { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "P07237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07237" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "P07237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07237" } ] } ] }, { "uniprot_ac": "P07339", "gene_name": "CTSD", "activity": [ { "ec_number": "3.4.23.5", "activity": "Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln-|-His-5 bond in B chain of insulin.", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] }, { "ec_number": "3.4.23.5", "activity": "", "evidence": [ { "id": "P07339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07339" } ] } ] }, { "uniprot_ac": "P08246", "gene_name": "ELANE", "activity": [ { "ec_number": "3.4.21.37", "activity": "Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] }, { "ec_number": "3.4.21.37", "activity": "", "evidence": [ { "id": "P08246", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08246" } ] } ] }, { "uniprot_ac": "P09110", "gene_name": "ACAA1", "activity": [ { "ec_number": "2.3.1.9", "activity": "2 acetyl-CoA = acetoacetyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.9", "activity": "", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.16", "activity": "acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.155", "activity": "acetyl-CoA + tetradecanoyl-CoA = 3-oxohexadecanoyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.16", "activity": "", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] } ] }, { "uniprot_ac": "P09960", "gene_name": "LTA4H", "activity": [ { "ec_number": "3.3.2.6", "activity": "H2O + leukotriene A4 = leukotriene B4.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.4.11.4", "activity": "Release of the N-terminal residue from a tripeptide.", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] }, { "ec_number": "3.3.2.6", "activity": "", "evidence": [ { "id": "P09960", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09960" } ] } ] }, { "uniprot_ac": "P09972", "gene_name": "ALDOC", "activity": [ { "ec_number": "4.1.2.13", "activity": "beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3-phosphate + dihydroxyacetone phosphate.", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] }, { "ec_number": "4.1.2.13", "activity": "", "evidence": [ { "id": "P09972", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09972" } ] } ] }, { "uniprot_ac": "P14780", "gene_name": "MMP9", "activity": [ { "ec_number": "3.4.24.35", "activity": "Cleavage of gelatin types I and V and collagen types IV and V.", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] }, { "ec_number": "3.4.24.35", "activity": "", "evidence": [ { "id": "P14780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14780" } ] } ] }, { "uniprot_ac": "P19801", "gene_name": "AOC1", "activity": [ { "ec_number": "1.4.3.22", "activity": "H2O + histamine + O2 = H2O2 + imidazole-4-acetaldehyde + NH4(+).", "evidence": [ { "id": "P19801", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19801" } ] }, { "ec_number": "1.4.3.22", "activity": "", "evidence": [ { "id": "P19801", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19801" } ] }, { "ec_number": "1.4.3.-", "activity": "", "evidence": [ { "id": "P19801", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19801" } ] } ] }, { "uniprot_ac": "P22894", "gene_name": "MMP8", "activity": [ { "ec_number": "3.4.24.34", "activity": "Cleavage of interstitial collagens in the triple helical domain. Unlike EC 3.4.24.7, this enzyme cleaves type III collagen more slowly than type I.", "evidence": [ { "id": "P22894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22894" } ] }, { "ec_number": "3.4.24.34", "activity": "", "evidence": [ { "id": "P22894", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22894" } ] } ] }, { "uniprot_ac": "P25774", "gene_name": "CTSS", "activity": [ { "ec_number": "3.4.22.27", "activity": "Similar to cathepsin L, but with much less activity on Z-Phe-Arg-|-NHMec, and more activity on the Z-Val-Val-Arg-|-Xaa compound.", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] }, { "ec_number": "3.4.22.27", "activity": "", "evidence": [ { "id": "P25774", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P25774" } ] } ] }, { "uniprot_ac": "P27882", "gene_name": "ERV1", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "P27882", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27882" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "P27882", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P27882" } ] } ] }, { "uniprot_ac": "P29350", "gene_name": "PTPN6", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P29350", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29350" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P29350", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29350" } ] } ] }, { "uniprot_ac": "P32320", "gene_name": "CDA", "activity": [ { "ec_number": "3.5.4.5", "activity": "2'-deoxycytidine + H(+) + H2O = 2'-deoxyuridine + NH4(+).", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] }, { "ec_number": "3.5.4.5", "activity": "", "evidence": [ { "id": "P32320", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P32320" } ] } ] }, { "uniprot_ac": "P35030", "gene_name": "PRSS3", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P35030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35030" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P35030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35030" } ] } ] }, { "uniprot_ac": "P36871", "gene_name": "PGM1", "activity": [ { "ec_number": "5.4.2.2", "activity": "alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate.", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] }, { "ec_number": "5.4.2.2", "activity": "", "evidence": [ { "id": "P36871", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36871" } ] } ] }, { "uniprot_ac": "P42685", "gene_name": "FRK", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P42685", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42685" } ] } ] }, { "uniprot_ac": "P49184", "gene_name": "DNASE1L1", "activity": [ { "ec_number": "3.1.21.-", "activity": "", "evidence": [ { "id": "P49184", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49184" } ] } ] }, { "uniprot_ac": "P51159", "gene_name": "RAB27A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51159", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51159" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51159", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51159" } ] } ] }, { "uniprot_ac": "P55789", "gene_name": "GFER", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "P55789", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55789" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "P55789", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55789" } ] } ] }, { "uniprot_ac": "P56213", "gene_name": "Gfer", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "P56213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P56213" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "P56213", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P56213" } ] } ] }, { "uniprot_ac": "P61626", "gene_name": "LYZ", "activity": [ { "ec_number": "3.2.1.17", "activity": "Hydrolysis of (1->4)-beta-linkages between N-acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins.", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] }, { "ec_number": "3.2.1.17", "activity": "", "evidence": [ { "id": "P61626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61626" } ] } ] }, { "uniprot_ac": "P98066", "gene_name": "TNFAIP6", "activity": [ { "ec_number": "3.1.1.-", "activity": "", "evidence": [ { "id": "P98066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98066" } ] } ] }, { "uniprot_ac": "Q12284", "gene_name": "ERV2", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "Q12284", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12284" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "Q12284", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12284" } ] } ] }, { "uniprot_ac": "Q13231", "gene_name": "CHIT1", "activity": [ { "ec_number": "3.2.1.14", "activity": "Random endo-hydrolysis of N-acetyl-beta-D-glucosaminide (1->4)-beta-linkages in chitin and chitodextrins.", "evidence": [ { "id": "Q13231", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13231" } ] }, { "ec_number": "3.2.1.14", "activity": "", "evidence": [ { "id": "Q13231", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13231" } ] } ] }, { "uniprot_ac": "Q13510", "gene_name": "ASAH1", "activity": [ { "ec_number": "3.5.1.23", "activity": "an N-acylsphing-4-enine + H2O = a fatty acid + sphing-4-enine.", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.23", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] }, { "ec_number": "3.5.1.-", "activity": "", "evidence": [ { "id": "Q13510", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13510" } ] } ] }, { "uniprot_ac": "Q14703", "gene_name": "MBTPS1", "activity": [ { "ec_number": "3.4.21.112", "activity": "Processes precursors containing basic and hydrophobic/aliphatic residues at P4 and P2, respectively, with a relatively relaxed acceptance of amino acids at P1 and P3.", "evidence": [ { "id": "Q14703", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14703" } ] }, { "ec_number": "3.4.21.112", "activity": "", "evidence": [ { "id": "Q14703", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14703" } ] } ] }, { "uniprot_ac": "Q15084", "gene_name": "PDIA6", "activity": [ { "ec_number": "5.3.4.1", "activity": "Catalyzes the rearrangement of -S-S- bonds in proteins.", "evidence": [ { "id": "Q15084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15084" } ] }, { "ec_number": "5.3.4.1", "activity": "", "evidence": [ { "id": "Q15084", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15084" } ] } ] }, { "uniprot_ac": "Q16769", "gene_name": "QPCT", "activity": [ { "ec_number": "2.3.2.5", "activity": "N-terminal L-glutaminyl-[peptide] = N-terminal 5-oxo-L-prolyl-[peptide] + NH4(+).", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] }, { "ec_number": "2.3.2.5", "activity": "", "evidence": [ { "id": "Q16769", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16769" } ] } ] }, { "uniprot_ac": "Q3TMX7", "gene_name": "Qsox2", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "Q3TMX7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3TMX7" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "Q3TMX7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3TMX7" } ] } ] }, { "uniprot_ac": "Q54R76", "gene_name": "", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "Q54R76", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54R76" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "Q54R76", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54R76" } ] } ] }, { "uniprot_ac": "Q54R93", "gene_name": "", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "Q54R93", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54R93" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "Q54R93", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54R93" } ] } ] }, { "uniprot_ac": "Q63042", "gene_name": "Gfer", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "Q63042", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63042" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "Q63042", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q63042" } ] } ] }, { "uniprot_ac": "Q6IUU3", "gene_name": "Qsox1", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "Q6IUU3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6IUU3" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "Q6IUU3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6IUU3" } ] } ] }, { "uniprot_ac": "Q6P988", "gene_name": "NOTUM", "activity": [ { "ec_number": "3.1.1.98", "activity": "[Wnt protein]-O-(9Z)-hexadecenoyl-L-serine + H2O = (9Z)-hexadecenoate + [Wnt protein]-L-serine + H(+).", "evidence": [ { "id": "Q6P988", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P988" } ] }, { "ec_number": "3.1.1.98", "activity": "", "evidence": [ { "id": "Q6P988", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6P988" } ] } ] }, { "uniprot_ac": "Q6ZRP7", "gene_name": "QSOX2", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "Q6ZRP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZRP7" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "Q6ZRP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZRP7" } ] } ] }, { "uniprot_ac": "Q75JQ5", "gene_name": "", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "Q75JQ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q75JQ5" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "Q75JQ5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q75JQ5" } ] } ] }, { "uniprot_ac": "Q7JQR3", "gene_name": "Qsox1", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "Q7JQR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7JQR3" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "Q7JQR3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7JQR3" } ] } ] }, { "uniprot_ac": "Q8BND5", "gene_name": "Qsox1", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "Q8BND5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BND5" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "Q8BND5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BND5" } ] } ] }, { "uniprot_ac": "Q8IMY4", "gene_name": "Qsox4", "activity": [ { "ec_number": "1.8.3.2", "activity": "O2 + 2 R'C(R)SH = H2O2 + R'C(R)S-S(R)CR'.", "evidence": [ { "id": "Q8IMY4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IMY4" } ] }, { "ec_number": "1.8.3.2", "activity": "", "evidence": [ { "id": "Q8IMY4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IMY4" } ] } ] }, { "uniprot_ac": "Q8IXL6", "gene_name": "FAM20C", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q8IXL6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IXL6" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q8IXL6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IXL6" } ] } ] }, { "uniprot_ac": "Q8NBM8", "gene_name": "PCYOX1L", "activity": [ { "ec_number": "1.8.3.-", "activity": "", "evidence": [ { "id": "Q8NBM8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBM8" } ] } ] }, { "uniprot_ac": "Q8NBP7", "gene_name": "PCSK9", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "Q8NBP7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBP7" } ] } ] }, { "uniprot_ac": "Q8NBX0", "gene_name": "SCCPDH", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "Q8NBX0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NBX0" } ] } ] }, { "uniprot_ac": "Q8WVQ1", "gene_name": "CANT1", "activity": [ { "ec_number": "3.6.1.6", "activity": "ADP + H2O = AMP + H(+) + phosphate.", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] }, { "ec_number": "3.6.1.6", "activity": "", "evidence": [ { "id": "Q8WVQ1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8WVQ1" } ] } ] }, { "uniprot_ac": "Q92820", "gene_name": "GGH", "activity": [ { "ec_number": "3.4.19.9", "activity": "(6S)-5,6,7,8-tetrahydrofolyl-(gamma-L-Glu)(n) + (n-1) H2O = (6S)-5,6,7,8-tetrahydrofolate + (n-1) L-glutamate.", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] }, { "ec_number": "3.4.19.9", "activity": "", "evidence": [ { "id": "Q92820", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92820" } ] } ] }, { "uniprot_ac": "Q96AD5", "gene_name": "PNPLA2", "activity": [ { "ec_number": "3.1.1.4", "activity": "1-O-alkyl-2-acyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn-glycero-3-phosphocholine + a fatty acid + H(+).", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AD5" } ] }, { "ec_number": "3.1.1.3", "activity": "a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+).", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96AD5" } ] }, { "ec_number": "3.1.1.3", "activity": "", "evidence": [ { "id": "Q96AD5", "database": "UniProtKB", "url": 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"https://www.uniprot.org/uniprot/Q9BTY2" } ] } ] }, { "uniprot_ac": "Q9H8H3", "gene_name": "TMT1A", "activity": [ { "ec_number": "2.1.1.348", "activity": "an adenosine in mRNA + S-adenosyl-L-methionine = an N(6)-methyladenosine in mRNA + H(+) + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9H8H3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8H3" } ] }, { "ec_number": "2.1.1.9", "activity": "a thiol + S-adenosyl-L-methionine = a methyl thioether + H(+) + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q9H8H3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8H3" } ] }, { "ec_number": "2.1.1.9", "activity": "", "evidence": [ { "id": "Q9H8H3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H8H3" } ] } ] }, { "uniprot_ac": "Q9NQR4", "gene_name": "NIT2", "activity": [ { "ec_number": "3.5.1.3", "activity": "a monoamide of a dicarboxylate + H2O = a dicarboxylate + NH4(+).", "evidence": [ { "id": "Q9NQR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQR4" } ] }, { "ec_number": "3.5.1.3", "activity": "", "evidence": [ { "id": "Q9NQR4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQR4" } ] } ] }, { "uniprot_ac": "Q9UBR2", "gene_name": "CTSZ", "activity": [ { "ec_number": "3.4.18.1", "activity": "Release of C-terminal amino acid residues with broad specificity, but lacks action on C-terminal proline. 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"3.2.1.166", "activity": "endohydrolysis of (1->4)-beta-D-glycosidic bonds of heparan sulfate chains in heparan sulfate proteoglycan.", "evidence": [ { "id": "Q9Y251", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y251" } ] }, { "ec_number": "3.2.1.166", "activity": "", "evidence": [ { "id": "Q9Y251", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y251" } ] } ] } ], "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": [ 130, 243, 575, 591 ], "o_linked_sites": [ 272, 276, 277, 281, 282, 286, 289, 488, 493, 533, 549, 575, 576, 577, 588, 590, 592, 593, 604, 631, 643, 645, 646, 647, 655 ], "snv_sites": [ 7, 130, 132, 276, 277, 282, 326, 370, 473, 493, 559, 575, 577, 590, 591, 592, 593, 643, 647, 655 ], "glycation_sites": [], "phosphorylation_sites": [ 145, 255, 300, 306, 426 ], "sequon_annotation_sites": [ { "start_pos": 130, "end_pos": 132 }, { "start_pos": 243, "end_pos": 245 }, { "start_pos": 575, "end_pos": 577 }, { "start_pos": 591, "end_pos": 593 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 78 }, { "field": "total_sites", "count": 22 }, { "field": "n_linked_glycans", "count": 30 }, { "field": "n_linked_glycan_sites", "count": 7 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 18 } ], "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": 3 }, { "field": "total_sites", "count": 3 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_with_glycan", "table_stats": [ { "field": "total", "count": 75 }, { "field": "total_sites", "count": 22 }, { "field": "n_linked_glycans", "count": 30 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 18 } ], "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_predicted", "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": "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": 5 }, { "field": "total_sites", "count": 5 } ], "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": 25 }, { "field": "total_sites", "count": 20 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 7 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 18 }, { "field": "total_sites", "count": 16 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 101 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }