{ "uniprot_canonical_ac": "P00387-1", "uniprot_ac": "P00387", "uniprot_id": "NB5R3_HUMAN", "mass": { "chemical_mass": 34235.0, "monoisotopic_mass": 34235.0 }, "refseq": { "ac": "NP_000389", "name": "NADH-cytochrome b5 reductase 3 isoform 1", "summary": "This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000389" }, "gene_names": [ { "name": "CYB5R3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00387", "id": "P00387" }, { "name": "B5R; DIA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000389", "id": "NP_000389" }, { "name": "CYB5R3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000389", "id": "NP_000389" }, { "name": "DIA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00387", "id": "P00387" }, { "name": "hCG_41905", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00387", "id": "P00387" } ], "protein_names": [ { "name": "NADH-cytochrome b5 reductase 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00387" }, { "name": "1.6.2.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00387" }, { "name": "B5R", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00387" }, { "name": "Cytochrome b5 reductase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00387" }, { "name": "Diaphorase-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00387" }, { "name": "NADH-cytochrome b5 reductase 3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000389", "id": "NP_000389" }, { "name": "diaphorase-1; NADH-cytochrome b5 reductase 3 membrane-bound form; NADH-cytochrome b5 reductase 3 soluble form; mutant NADH-cytochrome b5 reductase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000389", "id": "NP_000389" } ], "function": [ { "annotation": "Catalyzes the reduction of two molecules of cytochrome b5 using NADH as the electron donor.", "evidence": [ { "database": "UniProtKB", "id": "A0A8J8Z3C6", "url": "https://www.uniprot.org/uniprot/A0A8J8Z3C6#function" }, { "database": "UniProtKB", "id": "ARBA00037417", "url": "https://www.uniprot.org/uniprot/ARBA00037417#function" }, { "database": "UniProtKB", "id": "A0A8I5KR71", "url": "https://www.uniprot.org/uniprot/A0A8I5KR71#function" }, { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387#function" }, { "database": "PubMed", "id": "10807796", "url": "https://glygen.org/publication/PubMed/10807796" }, { "database": "PubMed", "id": "15953014", "url": "https://glygen.org/publication/PubMed/15953014" }, { "database": "PubMed", "id": "2019583", "url": "https://glygen.org/publication/PubMed/2019583" }, { "database": "PubMed", "id": "1898726", "url": "https://glygen.org/publication/PubMed/1898726" }, { "database": "PubMed", "id": "8119939", "url": "https://glygen.org/publication/PubMed/8119939" }, { "database": "PubMed", "id": "9639531", "url": "https://glygen.org/publication/PubMed/9639531" }, { "database": "PubMed", "id": "1400360", "url": "https://glygen.org/publication/PubMed/1400360" } ] }, { "annotation": "Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia.", "evidence": [ { "database": "RefSeq", "id": "NP_000389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000389" }, { "database": "PubMed", "id": "31898843", "url": "https://glygen.org/publication/PubMed/31898843" } ] }, { "annotation": "Study indicated that novel homozygous mutation p.Arg192Cys in CYB5R3 gene present in eight cases and the possibility of high prevalence of heterozygous in Indian population causing Type I recessive congenital methemoglobinemia.", "evidence": [ { "database": "RefSeq", "id": "NP_000389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000389" }, { "database": "PubMed", "id": "29482478", "url": "https://glygen.org/publication/PubMed/29482478" } ] }, { "annotation": "The CYB5R3(c) (.350C>G) and G6PD A alleles modify severity of anemia in malaria and sickle cell disease.", "evidence": [ { "database": "RefSeq", "id": "NP_000389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000389" }, { "database": "PubMed", "id": "32697331", "url": "https://glygen.org/publication/PubMed/32697331" } ] }, { "annotation": "This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_000389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000389" } ] }, { "annotation": "Three novel mutations in CYB5R3 gene causing NADH-cytochrome b5 reductase enzyme deficiency leads to recessive congenital methaemoglobinemia.", "evidence": [ { "database": "RefSeq", "id": "NP_000389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000389" }, { "database": "PubMed", "id": "35064402", "url": "https://glygen.org/publication/PubMed/35064402" } ] } ], "disease": [ { "disease_id": "MONDO:0009606", "recommended_name": { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "methemoglobinemia due to deficiency of methemoglobin reductase", "description": "" }, "synonyms": [ { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "methemoglobinemia due to deficiency of methemoglobin reductase", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "methemoglobinemia, type I", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "methemoglobinemia, type II", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "NADH cytochrome B5 reductase deficiency", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "NADH diaphorase deficiency", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "NADH methemoglobin reductase deficiency", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "NADH-cytochrome B5 reductase deficiency", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "NADH-cytochrome B5 reductase deficiency, type 1", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "NADH-cytochrome B5 reductase deficiency, type 2", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "NADH-dependent methemoglobin reductase deficiency", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "methemoglobinemia, congenital, autosomal recessive", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "methemoglobinemia, type 1", "description": "" }, { "id": "MONDO:0009606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009606", "name": "methemoglobinemia, type 2", "description": "" }, { "id": "MIM:250800", "resource": "MIM", "url": "https://www.omim.org/entry/250800", "name": "Methemoglobinemia CYB5R3-related", "description": "Methemoglobinemia CYB5R3-related" } ], "evidence": [ { "id": "250800", "database": "MIM", "url": "https://www.omim.org/entry/250800" } ] } ], "snv": [ { "evidence": [ { "id": "rs746159717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746159717" }, { "id": "rs746159717", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746159717" }, { "id": "rs746159717", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746159717" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 126, "end_pos": 126, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KMS->NMS).", "chr_id": "22", "chr_pos": "42628255", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147960720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147960720" }, { "id": "rs147960720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147960720" }, { "id": "rs147960720", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147960720#frequency_tab" }, { "id": "rs147960720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147960720" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 30, "end_pos": 30, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "22", "chr_pos": "42636779", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs147960720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147960720" }, { "id": "rs147960720", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147960720" }, { "id": "rs147960720", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs147960720#frequency_tab" }, { "id": "rs147960720", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs147960720" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 30, "end_pos": 30, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "22", "chr_pos": "42636779", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P00387", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P00387" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 30, "end_pos": 30, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->P).", "chr_id": "22", "chr_pos": "42636780", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "S30", "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": "rs1226881396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1226881396" }, { "id": "rs1226881396", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1226881396" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 31, "end_pos": 31, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->M).", "chr_id": "22", "chr_pos": "42636776", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T31", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 128, "end_pos": 128, "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased NADH-cytochrome b5 reductase activity, highly increases Km for NADH and decreases Kcat.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "1898726", "url": "https://glygen.org/publication/PubMed/1898726" } ] }, { "start_pos": 204, "end_pos": 204, "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on NADH-cytochrome b5 reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "2019583", "url": "https://glygen.org/publication/PubMed/2019583" } ] }, { "start_pos": 274, "end_pos": 274, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of 30% of NADH-cytochrome b5 reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "2019583", "url": "https://glygen.org/publication/PubMed/2019583" } ] }, { "start_pos": 274, "end_pos": 274, "sequence_org": "C", "sequence_mut": "A", "comment": "Loss of 80% of NADH-cytochrome b5 reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "2019583", "url": "https://glygen.org/publication/PubMed/2019583" } ] }, { "start_pos": 274, "end_pos": 274, "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on NADH-cytochrome b5 reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "2019583", "url": "https://glygen.org/publication/PubMed/2019583" } ] }, { "start_pos": 284, "end_pos": 284, "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on NADH-cytochrome b5 reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "2019583", "url": "https://glygen.org/publication/PubMed/2019583" } ] }, { "start_pos": 298, "end_pos": 298, "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on NADH-cytochrome b5 reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "2019583", "url": "https://glygen.org/publication/PubMed/2019583" } ] }, { "start_pos": 299, "end_pos": 299, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreases protein stability and slightly decreases NADH-cytochrome b5 reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "8119939", "url": "https://glygen.org/publication/PubMed/8119939" } ] }, { "start_pos": 299, "end_pos": 299, "sequence_org": "F", "sequence_mut": "L", "comment": "No effect on protein stability and NADH-cytochrome b5 reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "8119939", "url": "https://glygen.org/publication/PubMed/8119939" } ] }, { "start_pos": 299, "end_pos": 301, "sequence_org": "FVF", "sequence_mut": "LVL", "comment": "No effect on protein stability and NADH-cytochrome b5 reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "8119939", "url": "https://glygen.org/publication/PubMed/8119939" } ] }, { "start_pos": 301, "end_pos": 301, "sequence_org": "F", "sequence_mut": "A", "comment": "Decreases protein stability and slightly decreases NADH-cytochrome b5 reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "8119939", "url": "https://glygen.org/publication/PubMed/8119939" } ] }, { "start_pos": 301, "end_pos": 301, "sequence_org": "F", "sequence_mut": "L", "comment": "No effect on protein stability and NADH-cytochrome b5 reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" }, { "database": "PubMed", "id": "8119939", "url": "https://glygen.org/publication/PubMed/8119939" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "98.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "95.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "97.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "99.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "98.61", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.5", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "98.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100243", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100243" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00387", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00387" } ], "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": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { 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"MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" 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"" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "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 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"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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00387", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00387" } ], "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": 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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": "P00387", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00387" } ], "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/P00387" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8J8Z3C6-1", "url": "https://www.uniprot.org/uniprot/A0A8J8Z3C6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AHF3", "url": "https://www.uniprot.org/uniprot/B1AHF3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B1AHF3-1", "url": "https://www.uniprot.org/uniprot/B1AHF3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00387-1", "url": "https://www.uniprot.org/uniprot/P00387-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00387-2", "url": "https://www.uniprot.org/uniprot/P00387-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P00387-3", "url": "https://www.uniprot.org/uniprot/P00387-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF", "length": 301, "header": "sp|P00387-1|NB5R3_HUMAN Isoform 1 of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=3 CANONICAL=P00387-1" }, "isoforms": [ { "isoform_ac": "A0A8I5KNV1-1", "url": "", "sequence": { "sequence": "LGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREASTSTSRLELMETWSSGPIHPSPAMMTRASWTWSSRFTSRTPIPSFPLEGRCLSTWRACRLETPLSSGAPVGCWSTRAKGSSPSDLTKSPTLSSGQ", "length": 140, "header": "tr|A0A8I5KNV1-1|NB5R3_HUMAN Computationally mapped isoform of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42636846, "end_pos": 42627638, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693646.1", "url": "https://www.ensembl.org/id/ENST00000693646.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508449.1", "url": "https://www.ensembl.org/id/ENSP00000508449.1" } ] } }, { "isoform_ac": "A0A8I5KPU0-1", "url": "", "sequence": { "sequence": "MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQAGVQWRESRLTATSASRVQAIVLPQLPE", "length": 239, "header": "tr|A0A8I5KPU0-1|NB5R3_HUMAN Computationally mapped isoform of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42649315, "end_pos": 42625398, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690835.1", "url": "https://www.ensembl.org/id/ENST00000690835.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509038.1", "url": "https://www.ensembl.org/id/ENSP00000509038.1" } ] } }, { "isoform_ac": "A0A8I5KR71-1", "url": "", "sequence": { "sequence": "MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQDGVSPCWPGWSRPPDFR", "length": 298, "header": "tr|A0A8I5KR71-1|NB5R3_HUMAN Computationally mapped isoform of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42649315, "end_pos": 42616067, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693367.1", "url": "https://www.ensembl.org/id/ENST00000693367.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508815.1", "url": "https://www.ensembl.org/id/ENSP00000508815.1" } ] } }, { "isoform_ac": "A0A8I5KTF9-1", "url": "", "sequence": { "sequence": "LGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREMEKARPAHLPLGSN", "length": 58, "header": "tr|A0A8I5KTF9-1|A0A8I5KTF9_HUMAN Computationally mapped isoform of Cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42636846, "end_pos": 42630961, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693157.1", "url": "https://www.ensembl.org/id/ENST00000693157.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510610.1", "url": "https://www.ensembl.org/id/ENSP00000510610.1" } ] } }, { "isoform_ac": "A0A8I5KUA5-1", "url": "", "sequence": { "sequence": "LGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREMEKARSSAMTPGASALPCRHPSTSWASLSASTSTSRLELMETWSSGPIHPSPAMMTRASWTWSSRFTSRTPIPSFPLEGRCLSTWRACRLETPLSSGAPVGCWSTRAKGSSPSDLTKSPTLSSGQ", "length": 169, "header": "tr|A0A8I5KUA5-1|A0A8I5KUA5_HUMAN Computationally mapped isoform of Cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42636846, "end_pos": 42627638, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693639.1", "url": "https://www.ensembl.org/id/ENST00000693639.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510223.1", "url": "https://www.ensembl.org/id/ENSP00000510223.1" } ] } }, { "isoform_ac": "A0A8I5KVD2-1", "url": "", "sequence": { "sequence": "MKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGK", "length": 131, "header": "tr|A0A8I5KVD2-1|NB5R3_HUMAN Computationally mapped isoform of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42636798, "end_pos": 42628153, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686129.1", "url": "https://www.ensembl.org/id/ENST00000686129.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508623.1", "url": "https://www.ensembl.org/id/ENSP00000508623.1" } ] } }, { "isoform_ac": "A0A8I5KW26-1", "url": "", "sequence": { "sequence": "MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGLAQHVRGPAGYFAGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF", "length": 315, "header": "tr|A0A8I5KW26-1|NB5R3_HUMAN Computationally mapped isoform of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42649315, "end_pos": 42619776, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693363.1", "url": "https://www.ensembl.org/id/ENST00000693363.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510411.1", "url": "https://www.ensembl.org/id/ENSP00000510411.1" } ] } }, { "isoform_ac": "A0A8I5KXI5-1", "url": "", "sequence": { "sequence": "MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREMEKAR", "length": 56, "header": "tr|A0A8I5KXI5-1|A0A8I5KXI5_HUMAN Computationally mapped isoform of Cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42649315, "end_pos": 42636584, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686523.1", "url": "https://www.ensembl.org/id/ENST00000686523.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508940.1", "url": "https://www.ensembl.org/id/ENSP00000508940.1" } ] } }, { "isoform_ac": "A0A8I5KYU1-1", "url": "", "sequence": { "sequence": "MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF", "length": 201, "header": "tr|A0A8I5KYU1-1|NB5R3_HUMAN Computationally mapped isoform of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42649315, "end_pos": 42619776, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688244.1", "url": "https://www.ensembl.org/id/ENST00000688244.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510355.1", "url": "https://www.ensembl.org/id/ENSP00000510355.1" } ] } }, { "isoform_ac": "A0A8I5QKL2-1", "url": "", "sequence": { "sequence": "MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKGSSPSDLTKSPTLSSGQ", "length": 128, "header": "tr|A0A8I5QKL2-1|A0A8I5QKL2_HUMAN Computationally mapped isoform of Cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42649315, "end_pos": 42627638, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691295.1", "url": "https://www.ensembl.org/id/ENST00000691295.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508706.1", "url": "https://www.ensembl.org/id/ENSP00000508706.1" } ] } }, { "isoform_ac": "A0A8I5QKT9-1", "url": "", "sequence": { "sequence": "LGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQNSLHHEHGVEPTGRVGRMLAWTWRGPSYK", "length": 233, "header": "tr|A0A8I5QKT9-1|NB5R3_HUMAN Computationally mapped isoform of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42636846, "end_pos": 42626947, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691918.1", "url": "https://www.ensembl.org/id/ENST00000691918.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509525.1", "url": "https://www.ensembl.org/id/ENSP00000509525.1" } ] } }, { "isoform_ac": "A0A8I5QKX1-1", "url": "", "sequence": { "sequence": "MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF", "length": 273, "header": "tr|A0A8I5QKX1-1|A0A8I5QKX1_HUMAN Computationally mapped isoform of cytochrome-b5 reductase OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42649315, "end_pos": 42619776, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689195.1", "url": "https://www.ensembl.org/id/ENST00000689195.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509895.1", "url": "https://www.ensembl.org/id/ENSP00000509895.1" } ] } }, { "isoform_ac": "A0A8J8YWN6-1", "url": "", "sequence": { "sequence": "MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKASETSKQEDRAEPPGSQPLHCSCTFLMARVRMAAASTSDLTVGAGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF", "length": 345, "header": "tr|A0A8J8YWN6-1|A0A8J8YWN6_HUMAN Computationally mapped isoform of cytochrome-b5 reductase OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42649315, "end_pos": 42619776, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361740.9", "url": "https://www.ensembl.org/id/ENST00000361740.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000354468.5", "url": "https://www.ensembl.org/id/ENSP00000354468.5" } ] } }, { "isoform_ac": "A0A8J8Z3C6-1", "url": "", "sequence": { "sequence": "MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDRELWASLQIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF", "length": 307, "header": "tr|A0A8J8Z3C6-1|A0A8J8Z3C6_HUMAN Computationally mapped isoform of NADH-cytochrome b5 reductase OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=1 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42649315, "end_pos": 42619776, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000407332.6", "url": "https://www.ensembl.org/id/ENST00000407332.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000384457.2", "url": "https://www.ensembl.org/id/ENSP00000384457.2" } ] } }, { "isoform_ac": "B1AHF3-1", "url": "", "sequence": { "sequence": "MKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGT", "length": 159, "header": "tr|B1AHF3-1|NB5R3_HUMAN Computationally mapped isoform of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=2 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42636798, "end_pos": 42627606, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438270.2", "url": "https://www.ensembl.org/id/ENST00000438270.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000403439.2", "url": "https://www.ensembl.org/id/ENSP00000403439.2" } ] } }, { "isoform_ac": "P00387-1", "url": "", "sequence": { "sequence": "MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF", "length": 301, "header": "sp|P00387-1|NB5R3_HUMAN Isoform 1 of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=3 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42649315, "end_pos": 42619776, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000352397.10", "url": "https://www.ensembl.org/id/ENST00000352397.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000338461.6", "url": "https://www.ensembl.org/id/ENSP00000338461.6" } ] } }, { "isoform_ac": "P00387-2", "url": "", "sequence": { "sequence": "MKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF", "length": 278, "header": "sp|P00387-2|NB5R3_HUMAN Isoform 2 of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=3 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42636798, "end_pos": 42619776, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687198.1", "url": "https://www.ensembl.org/id/ENST00000687198.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508492.1", "url": "https://www.ensembl.org/id/ENSP00000508492.1" } ] } }, { "isoform_ac": "P00387-3", "url": "", "sequence": { "sequence": "MNRSLLVGCMQSKDIWGREESICERLKQDGLDVERAESWELGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF", "length": 334, "header": "sp|P00387-3|NB5R3_HUMAN Isoform 3 of NADH-cytochrome b5 reductase 3 OS=Homo sapiens OX=9606 GN=CYB5R3 PE=1 SV=3 CANONICAL=P00387-1" }, "locus": { "chromosome": "22", "start_pos": 42644509, "end_pos": 42619776, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688117.1", "url": "https://www.ensembl.org/id/ENST00000688117.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509015.1", "url": "https://www.ensembl.org/id/ENSP00000509015.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 30, "start_aa": "Ser", "end_pos": 30, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser30", "evidence": [ { "id": "P00387", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P00387" }, { "id": "25367160", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25367160" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "32870666", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32870666" }, { "id": "P00387", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P00387" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", 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vitamin C transporter (SVCT2): molecular cloning and transport function.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Rajan DP, Huang W, Dutta B, Devoe LD, Leibach FH, Ganapathy V, Prasad PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10471399", "url": "https://glygen.org/publication/PubMed/10471399" } ] }, { "title": "Human Na(+)-dependent vitamin C transporter 1 (hSVCT1): primary structure, functional characteristics and evidence for a non-functional splice variant.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Wang H, Dutta B, Huang W, Devoe LD, Leibach FH, Ganapathy V, Prasad PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10556483", "url": 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A functional implication for the role of the COOH-terminal region of the enzyme.", "journal": "The Journal of biological chemistry", "date": "1994", "authors": "Shirabe K, Fujimoto Y, Yubisui T, Takeshita M", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "reference": [ { "type": "PubMed", "id": "8119939", "url": "https://glygen.org/publication/PubMed/8119939" } ] }, { "title": "NADH-cytochrome b5 reductase and cytochrome b5 isoforms as models for the study of post-translational targeting to the endoplasmic reticulum.", "journal": "FEBS letters", "date": "1993", "authors": "Borgese N, D'Arrigo A, De Silvestris M, Pietrini G", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "8513896", "url": "https://glygen.org/publication/PubMed/8513896" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy 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": "Cancer chemopreventive activity of resveratrol, a natural product derived from grapes.", "journal": "Science (New York, N.Y.)", "date": "1997", "authors": "Jang M, Cai L, Udeani GO, Slowing KV, Thomas CF, Beecher CW, Fong HH, Farnsworth NR, Kinghorn AD, Mehta RG, Moon RC, Pezzuto JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "8985016", "url": "https://glygen.org/publication/PubMed/8985016" } ] }, { "title": "A high-frequency polymorphism of NADH-cytochrome b5 reductase in African-Americans.", "journal": "Hum. Genet.", "date": "1997", "authors": "Jenkins M M, Prchal J T", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "reference": [ { "type": "PubMed", "id": "9048929", "url": "https://glygen.org/publication/PubMed/9048929" } ] }, { "title": "Purification and cloning of a broad substrate specificity human liver carboxylesterase that catalyzes the hydrolysis of cocaine and heroin.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Pindel EV, Kedishvili NY, Abraham TL, Brzezinski MR, Zhang J, Dean RA, Bosron WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "9169443", "url": "https://glygen.org/publication/PubMed/9169443" } ] }, { "title": "Glucose transporter isoforms GLUT1 and GLUT3 transport dehydroascorbic acid.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Rumsey SC, Kwon O, Xu GW, Burant CF, Simpson I, Levine M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "9228080", "url": "https://glygen.org/publication/PubMed/9228080" } ] }, { "title": "Catalytic properties of NAD(P)H:quinone oxidoreductase-2 (NQO2), a dihydronicotinamide riboside dependent oxidoreductase.", "journal": "Archives of biochemistry and biophysics", "date": "1997", "authors": "Wu K, Knox R, Sun XZ, Joseph P, Jaiswal AK, Zhang D, Deng PS, Chen S", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "9367528", "url": "https://glygen.org/publication/PubMed/9367528" } ] }, { "title": "An erythroid-specific transcript generates the soluble form of NADH-cytochrome b5 reductase in humans.", "journal": "Blood", "date": "1998-07-01", "authors": "Bulbarelli A, Valentini A, DeSilvestris M, Cappellini M D, Borgese N", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "reference": [ { "type": "PubMed", "id": "9639531", "url": "https://glygen.org/publication/PubMed/9639531" } ] }, { "title": "Cloning of vascular adhesion protein 1 reveals a novel multifunctional adhesion molecule.", "journal": "The Journal of experimental medicine", "date": "1998", "authors": "Smith DJ, Salmi M, Bono P, Hellman J, Leu T, Jalkanen S", "evidence": [ { "database": "Reactome", "id": "R-HSA-211945", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945" } ], "reference": [ { "type": "PubMed", "id": "9653080", "url": "https://glygen.org/publication/PubMed/9653080" } ] }, { "title": "Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I.", "journal": "British journal of haematology", "date": "1998", "authors": "Wu YS, Huang CH, Wan Y, Huang QJ, Zhu ZY", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "reference": [ { "type": "PubMed", "id": "9695975", "url": "https://glygen.org/publication/PubMed/9695975" } ] }, { "title": "Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.", "journal": "British journal of haematology", "date": "1998", "authors": "Higasa K, Manabe JI, Yubisui T, Sumimoto H, Pung-Amritt P, Tanphaichitr VS, Fukumaki Y", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "reference": [ { "type": "PubMed", "id": "9886302", "url": "https://glygen.org/publication/PubMed/9886302" } ] } ], "pathway": [ { "id": "hsa:1727", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1727", "resource": "KEGG Pathway" }, { "id": "R-HSA-196836", "name": "Vitamin C (ascorbate) metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836", "resource": "Reactome", "description": "Vitamin C (ascorbate) metabolism" }, { "id": "R-HSA-211945", "name": "Phase I - Functionalization of compounds", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211945", "resource": "Reactome", "description": "Phase I - Functionalization of compounds" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" } ], "orthologs": [ { "uniprot_canonical_ac": "P20070-1", "protein_name": "NADH-cytochrome b5 reductase 3", "gene_name": "Cyb5r3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGAQLSTLSRVVLSPVWFVYSLFMKLFQRSSPAITLENPDIKYPLRLIDKEIISHDTRRFRFALPSPQHILGLPIGQHIYLSTRIDGNLVIRPYTPVSSDDDKGFVDLVVKVYFKDTHPKFPAGGKMSQYLENMNIGDTIEFRGPNGLLVYQGKGKFAIRADKKSNPVVRTVKSVGMIAGGTGITPMLQVIRAVLKDPNDHTVCYLLFANQSEKDILLRPELEELRNEHSSRFKLWYTVDKAPDAWDYSQGFVNEEMIRDHLPPPGEETLILMCGPPPMIQFACLPNLERVGHPKERCFTF", "length": 301 }, "evidence": [ { "id": "45928244", "url": "http://www.informatics.jax.org/homology/45928244", "database": "MGI" }, { "id": "P00387", "url": "https://omabrowser.org/oma/group/P00387/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P36060-1", "protein_name": "NADH-cytochrome b5 reductase 2", "gene_name": "MCR1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MFSRLSRSHSKALPIALGTVAIAAATAFYFANRNQHSFVFNESNKVFKGDDKWIDLPISKIEEESHDTRRFTFKLPTEDSEMGLVLASALFAKFVTPKGSNVVRPYTPVSDLSQKGHFQLVVKHYEGGKMTSHLFGLKPNDTVSFKGPIMKWKWQPNQFKSITLLGAGTGINPLYQLAHHIVENPNDKTKVNLLYGNKTPQDILLRKELDALKEKYPDKFNVTYFVDDKQDDQDFDGEISFISKDFIQEHVPGPKESTHLFVCGPPPFMNAYSGEKKSPKDQGELIGILNNLGYSKDQVFKF", "length": 302 }, "evidence": [ { "id": "P00387", "url": "https://omabrowser.org/oma/group/P00387/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q9DCN2-1", "protein_name": "NADH-cytochrome b5 reductase 3", "gene_name": "Cyb5r3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGAQLSTLSHVVLSPVWFIYSLFMKLFQRSTPAITLENPDIKYPLRLIDKEVISPDTRRFRFALPSPQHILGLPIGQHIYLSTRIDGNLVIRPYTPVSSDDDKGFVDLVVKVYFKDTHPKFPAGGKMSQYLENMKIGDTIEFRGPNGLLVYQGKGKFAIRADKKSNPVVRTVKSVGMIAGGTGITPMLQVIRAVLKDPNDHTVCYLLFANQSEKDILLRPELEELRNEHSARFKLWYTVDKAPDAWDYSQGFVNEEMIRDHLPTPGEEPLILMCGPPPMIQFACLPNLERVGHPKERCFTF", "length": 301 }, "evidence": [ { "id": "45928244", "url": 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"database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "pmid": "" }, { "name": "nitric-oxide synthase complex", "id": "GO:1903958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903958", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "cytochrome-b5 reductase activity, acting on NAD(P)H", "id": "GO:0004128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004128", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "pmid": "" }, { "name": "AMP binding", "id": "GO:0016208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016208", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "pmid": "" }, { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "blood circulation", "id": "GO:0008015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008015", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "pmid": "" }, { "name": "nitric oxide biosynthetic process", "id": "GO:0006809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006809", "evidence": [ { "database": "UniProtKB", "id": "P00387", "url": "https://www.uniprot.org/uniprot/P00387" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 210, "end_pos": 212, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "46680", "name": "", "equation": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AY12-1", "Q68EJ0-1", "P20070-1", "Q5EB81-1", "Q7L1T6-1", "Q9UHQ9-1", "Q6IPT4-1", "P00387-1", "Q6BCY4-1", "Q9DB73-1", "B1AS42-1", "Q3TDX8-4", "Q3KNK3-1", "Q9DCN2-1", "P38626-1", "P36060-1", "Q12746-1", "Q54NC1-1", "X2JGK6-1" ], "evidence": [ { "id": "46680", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46680" } ] }, { "id": "R-HSA-198824", "name": "CYB5R3:FAD reduces CYB5A:ferriheme to CYB5A:heme", "equation": "", "summary": "Cytochrome b5 reductase (CYB5R3) catalyzes the reduction of cytosolic ferric CYB5A (CYB5A:ferriheme) to ferrous CYPB5A (CYB5A:heme), coupled to the conversion of NADH to NAD+ (Shirabe et al. 1995). CYB5R3 is associated with the outer mitochondrial membrane via a myristoyl group added post-translationally to glycine residue 2 of the protein (Borgese et al. 1993).", "cellular_location": "cytosol, mitochondrial outer membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P00387-1" ], "evidence": [ { "id": "R-HSA-198824", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-198824" } ] }, { "id": "R-HSA-6798751", "name": "Exocytosis of azurophil granule lumen proteins", "equation": "", "summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).; ; MPO reacts with H2O2 formed by NADPH oxidase, increasing its toxicity by formation of hypochlorous acid and other chlorination products, tyrosine radicals and reactive nitrogen intermediates which attack the surface of microbes (Klebanoff et al. 2013).;", "cellular_location": "extracellular region, azurophil granule lumen", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q05655-1", "P07686-1", "P12724-1", "P04066-1", "Q92820-1", "Q6XQN6-1", "Q99536-1", "Q9BRF8-1", "Q9UHL4-1", "P08246-1", "P34059-1", "P15586-1", "P24158-1", "Q9Y2J8-1", "P10619-1", "O00584-1", "P53396-1", "P55072-1", "P06280-1", "P28482-1", "Q9NZK5-1", "P20933-1", "P05089-1", "P15289-1", "P15848-1", "P16278-1", "Q9H7Z7-1", "P53634-1", "P08311-1", "Q9BTY2-1", "P00387-1", "P30041-1", "P05164-1", "Q8NBS9-1", "P11216-1", "P10153-1", "P61626-1", "P08236-1", "P42685-1", "P07478-1", "O00754-1", "P20839-1" ], "evidence": [ { "id": "R-HSA-6798751", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798751" } ] }, { "id": "R-HSA-8936442", "name": "MARC1,MARC2 reduce N-hydroxylated compounds", "equation": "", "summary": "Mitochondrial amidoxime-reducing components 1 and 2 (MARC1 and 2) are Mo-molybdopterin (Mo-MPT) cofactor-dependent, outer mitochondrial membrane-associated enzymes capable of reducing N-hydroxylated prodrugs and N-hydroxy-L-arginine (NOHA) and N-hydroxy-N-methyl-L-arginine (NHAM) into L-arginine and N(delta)-methyl-L-arginine, respectively. They are components of an N-hydroxylated prodrug-converting complex, also containing cytochrome b5 (CYB5B) and NADH cytochrome b5 reductase 3 (CYB5R3) (Jakobs et al. 2014, Gruenewald et al. 2008, Ott et al. 2014, 2015). The reduction of NOHA is described in this reaction.", "cellular_location": "cytosol, mitochondrial outer membrane", "input_participant_list": [ "R-ALL-8936443" ], "output_participant_list": [], "enzyme_list": [ "P00387-1", "Q5VT66-1", "Q969Z3-1" ], "evidence": [ { "id": "R-HSA-8936442", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8936442" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-8936443", "participant_name": "NOHA [cytosol]", "crossref": [ { "id": "5227", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "47823", "database": "ChEBI", "url": "" }, { "id": "47823", "database": "ChEBI", "url": "" }, { "id": "5227", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "47823", "database": "ChEBI", "url": "" }, { "id": "5227", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "47823", "database": "ChEBI", "url": "" }, { "id": "5227", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "47823", "database": "ChEBI", "url": "" }, { "id": "5227", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "47823", "database": "ChEBI", "url": "" }, { "id": "5227", "database": "Guide to Pharmacology - Ligands", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "B1AS42", "gene_name": "Cyb5rl", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "B1AS42", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B1AS42" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "B1AS42", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B1AS42" } ] } ] }, { "uniprot_ac": "O00584", "gene_name": "RNASET2", "activity": [ { "ec_number": "4.6.1.19", "activity": "a ribonucleotidyl-ribonucleotide-RNA + H2O = a 3'-end 3'-phospho-ribonucleotide-RNA + a 5'-end dephospho-ribonucleoside-RNA + H(+).", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] }, { "ec_number": "4.6.1.19", "activity": "", "evidence": [ { "id": "O00584", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00584" } ] } ] }, { "uniprot_ac": "O00754", "gene_name": "MAN2B1", "activity": [ { "ec_number": "3.2.1.24", "activity": "Hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides.", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] }, { "ec_number": "3.2.1.24", "activity": "", "evidence": [ { "id": "O00754", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00754" } ] } ] }, { "uniprot_ac": "P00387", "gene_name": "CYB5R3", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "P00387", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00387" } ] } ] }, { "uniprot_ac": "P04066", "gene_name": "FUCA1", "activity": [ { "ec_number": "3.2.1.51", "activity": "an alpha-L-fucoside + H2O = an alcohol + L-fucose.", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] }, { "ec_number": "3.2.1.51", "activity": "", "evidence": [ { "id": "P04066", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04066" } ] } ] }, { "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": "P05164", "gene_name": "MPO", "activity": [ { "ec_number": "1.11.2.2", "activity": "chloride + H(+) + H2O2 = H2O + hypochlorous acid.", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] }, { "ec_number": "1.11.2.2", "activity": "", "evidence": [ { "id": "P05164", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P05164" } ] } ] }, { "uniprot_ac": "P06280", "gene_name": "GLA", "activity": [ { "ec_number": "3.2.1.-", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "a globoside Gb3Cer (d18:1(4E)) + H2O = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + D-galactose.", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] }, { "ec_number": "3.2.1.22", "activity": "", "evidence": [ { "id": "P06280", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06280" } ] } ] }, { "uniprot_ac": "P07478", "gene_name": "PRSS2", "activity": [ { "ec_number": "3.4.21.4", "activity": "Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa.", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] }, { "ec_number": "3.4.21.4", "activity": "", "evidence": [ { "id": "P07478", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07478" } ] } ] }, { "uniprot_ac": "P07686", "gene_name": "HEXB", "activity": [ { "ec_number": "3.2.1.52", "activity": "Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] }, { "ec_number": "3.2.1.52", "activity": "", "evidence": [ { "id": "P07686", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07686" } ] } ] }, { "uniprot_ac": "P08236", "gene_name": "GUSB", "activity": [ { "ec_number": "3.2.1.31", "activity": "a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate.", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] }, { "ec_number": "3.2.1.31", "activity": "", "evidence": [ { "id": "P08236", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08236" } ] } ] }, { "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": "P08311", "gene_name": "CTSG", "activity": [ { "ec_number": "3.4.21.20", "activity": "Specificity similar to chymotrypsin C.", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] }, { "ec_number": "3.4.21.20", "activity": "", "evidence": [ { "id": "P08311", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P08311" } ] } ] }, { "uniprot_ac": "P10153", "gene_name": "RNASE2", "activity": [ { "ec_number": "4.6.1.18", "activity": "an [RNA] containing cytidine + H2O = an [RNA]-3'-cytidine-3'-phosphate + a 5'-hydroxy-ribonucleotide-3'-[RNA].", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] }, { "ec_number": "4.6.1.18", "activity": "", "evidence": [ { "id": "P10153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10153" } ] } ] }, { "uniprot_ac": "P10619", "gene_name": "CTSA", "activity": [ { "ec_number": "3.4.16.-", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "Release of a C-terminal amino acid with broad specificity.", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] }, { "ec_number": "3.4.16.5", "activity": "", "evidence": [ { "id": "P10619", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10619" } ] } ] }, { "uniprot_ac": "P11216", "gene_name": "PYGB", "activity": [ { "ec_number": "2.4.1.1", "activity": "[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D-glucosyl](n-1) + alpha-D-glucose 1-phosphate.", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] }, { "ec_number": "2.4.1.1", "activity": "", "evidence": [ { "id": "P11216", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11216" } ] } ] }, { "uniprot_ac": "P12724", "gene_name": "RNASE3", "activity": [ { "ec_number": "3.1.27.-", "activity": "", "evidence": [ { "id": "P12724", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12724" } ] } ] }, { "uniprot_ac": "P15289", "gene_name": "ARSA", "activity": [ { "ec_number": "3.1.6.8", "activity": "H2O + N-acyl-1-beta-D-(3-O-sulfo)-galactosyl-sphing-4-enine = a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H(+) + sulfate.", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] }, { "ec_number": "3.1.6.8", "activity": "", "evidence": [ { "id": "P15289", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15289" } ] } ] }, { "uniprot_ac": "P15586", "gene_name": "GNS", "activity": [ { "ec_number": "3.1.6.14", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfate and keratan sulfate.", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] }, { "ec_number": "3.1.6.14", "activity": "", "evidence": [ { "id": "P15586", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15586" } ] } ] }, { "uniprot_ac": "P15848", "gene_name": "ARSB", "activity": [ { "ec_number": "3.1.6.12", "activity": "Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] }, { "ec_number": "3.1.6.12", "activity": "", "evidence": [ { "id": "P15848", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15848" } ] } ] }, { "uniprot_ac": "P16278", "gene_name": "GLB1", "activity": [ { "ec_number": "3.2.1.23", "activity": "Hydrolysis of terminal non-reducing beta-D-galactose residues in beta-D-galactosides.", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] }, { "ec_number": "3.2.1.23", "activity": "", "evidence": [ { "id": "P16278", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16278" } ] } ] }, { "uniprot_ac": "P20070", "gene_name": "Cyb5r3", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "P20070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20070" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "P20070", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20070" } ] } ] }, { "uniprot_ac": "P20839", "gene_name": "IMPDH1", "activity": [ { "ec_number": "1.1.1.205", "activity": "H2O + IMP + NAD(+) = H(+) + NADH + XMP.", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] }, { "ec_number": "1.1.1.205", "activity": "", "evidence": [ { "id": "P20839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20839" } ] } ] }, { "uniprot_ac": "P20933", "gene_name": "AGA", "activity": [ { "ec_number": "3.5.1.26", "activity": "H2O + N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine = H(+) + L-aspartate + N-acetyl-beta-D-glucosaminylamine.", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] }, { "ec_number": "3.5.1.26", "activity": "", "evidence": [ { "id": "P20933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20933" } ] } ] }, { "uniprot_ac": "P24158", "gene_name": "PRTN3", "activity": [ { "ec_number": "3.4.21.76", "activity": "Hydrolysis of proteins, including elastin, by preferential cleavage: -Ala-|-Xaa- > -Val-|-Xaa-.", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] }, { "ec_number": "3.4.21.76", "activity": "", "evidence": [ { "id": "P24158", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P24158" } ] } ] }, { "uniprot_ac": "P28482", "gene_name": "MAPK1", "activity": [ { "ec_number": "2.7.11.24", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] }, { "ec_number": "2.7.11.24", "activity": "", "evidence": [ { "id": "P28482", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28482" } ] } ] }, { "uniprot_ac": "P30041", "gene_name": "PRDX6", "activity": [ { "ec_number": "1.11.1.27", "activity": "a hydroperoxide + 2 glutathione = an alcohol + glutathione disulfide + H2O.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "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": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "2.3.1.23", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] }, { "ec_number": "1.11.1.27", "activity": "", "evidence": [ { "id": "P30041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30041" } ] } ] }, { "uniprot_ac": "P34059", "gene_name": "GALNS", "activity": [ { "ec_number": "3.1.6.4", "activity": "Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] }, { "ec_number": "3.1.6.4", "activity": "", "evidence": [ { "id": "P34059", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34059" } ] } ] }, { "uniprot_ac": "P36060", "gene_name": "MCR1", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "P36060", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36060" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "P36060", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36060" } ] } ] }, { "uniprot_ac": "P38626", "gene_name": "CBR1", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "P38626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38626" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "P38626", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P38626" } ] } ] }, { "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": "P53396", "gene_name": "ACLY", "activity": [ { "ec_number": "2.3.3.8", "activity": "acetyl-CoA + ADP + oxaloacetate + phosphate = ATP + citrate + CoA.", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] }, { "ec_number": "2.3.3.8", "activity": "", "evidence": [ { "id": "P53396", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53396" } ] } ] }, { "uniprot_ac": "P53634", "gene_name": "CTSC", "activity": [ { "ec_number": "3.4.14.1", "activity": "Release of an N-terminal dipeptide, Xaa-Yaa-|-Zaa-, except when Xaa is Arg or Lys, or Yaa or Zaa is Pro.", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] }, { "ec_number": "3.4.14.1", "activity": "", "evidence": [ { "id": "P53634", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P53634" } ] } ] }, { "uniprot_ac": "P55072", "gene_name": "VCP", "activity": [ { "ec_number": "3.6.4.6", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] }, { "ec_number": "3.6.4.6", "activity": "", "evidence": [ { "id": "P55072", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P55072" } ] } ] 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"activity": "", "evidence": [ { "id": "Q3KNK3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3KNK3" } ] } ] }, { "uniprot_ac": "Q3TDX8", "gene_name": "Cyb5r4", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "Q3TDX8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3TDX8" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "Q3TDX8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3TDX8" } ] } ] }, { "uniprot_ac": "Q54NC1", "gene_name": "cyb5r1", "activity": [ { "ec_number": "1.6.2.2", "activity": "2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+).", "evidence": [ { "id": "Q54NC1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54NC1" } ] }, { "ec_number": "1.6.2.2", "activity": "", "evidence": [ { "id": "Q54NC1", "database": "UniProtKB", "url": 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"snv_sites": [ 30, 31, 126 ], "glycation_sites": [], "phosphorylation_sites": [ 43 ], "sequon_annotation_sites": [ { "start_pos": 210, "end_pos": 212 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "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": 2 } ], "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": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "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": 2 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 5 }, { "field": "total_sites", "count": 3 } ], "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": 1 }, { "field": "total_sites", "count": 1 } ], "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": 4 }, { "field": "total_sites", "count": 3 } ], "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": 89 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }