{ "uniprot_canonical_ac": "P04839-1", "uniprot_ac": "P04839", "uniprot_id": "CY24B_HUMAN", "mass": { "chemical_mass": 65336.0, "monoisotopic_mass": 65336.0 }, "refseq": { "ac": "NP_000388", "name": "cytochrome b-245 heavy chain", "summary": "Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000388" }, "gene_names": [ { "name": "CYBB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04839", "id": "P04839" }, { "name": "AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX; GP91PHOX; IMD34; NOX2; p91-PHOX", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000388", "id": "NP_000388" }, { "name": "CYBB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000388", "id": "NP_000388" }, { "name": "NOX2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04839", "id": "P04839" } ], "protein_names": [ { "name": "Cytochrome b-245 heavy chain", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04839" }, { "name": "1.-.-.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04839" }, { "name": "CGD91-phox", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04839" }, { "name": "Cytochrome b(558) subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04839" }, { "name": "Cytochrome b558 subunit beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04839" }, { "name": "Heme-binding membrane glycoprotein gp91phox", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04839" }, { "name": "NADPH oxidase 2; CGD91-phox; p22 phagocyte B-cytochrome; cytochrome b558 subunit beta; cytochrome b(558) subunit beta; neutrophil cytochrome b 91 kDa polypeptide; heme-binding membrane glycoprotein gp91phox; cytochrome b-245 beta polypeptide; superoxide-generating NADPH oxidase heavy chain subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000388", "id": "NP_000388" }, { "name": "NADPH oxidase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04839" }, { "name": "Neutrophil cytochrome b 91 kDa polypeptide", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04839" }, { "name": "Superoxide-generating NADPH oxidase heavy chain subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04839" }, { "name": "cytochrome b-245 heavy chain", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000388", "id": "NP_000388" }, { "name": "gp91-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04839" }, { "name": "gp91-phox", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04839" }, { "name": "p22 phagocyte B-cytochrome", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04839" } ], "function": [ { "annotation": "Activated SIRT1 contributes to DPT-induced glioma cell parthanatos by upregulation of NOX2 and NAT10.", "evidence": [ { "database": "RefSeq", "id": "NP_000388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000388" }, { "database": "PubMed", "id": "37277492", "url": "https://glygen.org/publication/PubMed/37277492" } ] }, { "annotation": "Ang II Promotes ET-1 Production by Regulating NOX2 Activity Through Transcription Factor Oct-1.", "evidence": [ { "database": "RefSeq", "id": "NP_000388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000388" }, { "database": "PubMed", "id": "37381986", "url": "https://glygen.org/publication/PubMed/37381986" } ] }, { "annotation": "Association Between Serum Levels of Nicotinamide-Adenine Dinucleotide Phosphate Oxidase 2 and the Development of Atrial Fibrillation After Isolated Coronary Artery Bypass Grafting: A Prospective Pilot Study.", "evidence": [ { "database": "RefSeq", "id": "NP_000388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000388" }, { "database": "PubMed", "id": "37347818", "url": "https://glygen.org/publication/PubMed/37347818" } ] }, { "annotation": "Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc.", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839#function" } ] }, { "annotation": "Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000388" } ] }, { "annotation": "Novel mutations in CYBB Gene Cause X-linked chronic Granulomatous Disease in Pakistani patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000388" }, { "database": "PubMed", "id": "37533075", "url": "https://glygen.org/publication/PubMed/37533075" } ] }, { "annotation": "The Expression and Role of NADPH Oxidase 2 in Colon Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000388" }, { "database": "PubMed", "id": "37247898", "url": "https://glygen.org/publication/PubMed/37247898" } ] } ], "disease": [ { "disease_id": "DOID:0070195", "recommended_name": { "id": "DOID:0070195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070195", "name": "X-linked chronic granulomatous disease", "description": "A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4." }, "synonyms": [ { "id": "DOID:0070195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070195", "name": "X-linked chronic cytochrome b-negative granulomatous disease", "description": "" }, { "id": "DOID:0070195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070195", "name": "CDGX", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "granulomatous disease, chronic, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "CDGX", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "CGD", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "chronic granulomatous disease, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "chronic granulomatous disease, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "chronic granulomatous disease, atypical", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "cytochrome B-negative granulomatous disease, chronic, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "cytochrome B-positive granulomatous disease, chronic, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "granulomatous disease, chronic, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "granulomatous disease, chronic, X-linked, variant", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "granulomatous disease, chronic, autosomal dominant type", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "granulomatous disease, chronic, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "CDGX", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "CGD", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "chronic granulomatous disease, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "chronic granulomatous disease, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "chronic granulomatous disease, atypical", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "cytochrome B-negative granulomatous disease, chronic, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "cytochrome B-positive granulomatous disease, chronic, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "granulomatous disease, chronic, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "granulomatous disease, chronic, X-linked, variant", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "granulomatous disease, chronic, autosomal dominant type", "description": "" }, { "id": "MIM:306400", "resource": "MIM", "url": "https://www.omim.org/entry/306400", "name": "Granulomatous disease, chronic, X-linked", "description": "Granulomatous disease, chronic, X-linked" } ], "evidence": [ { "id": "306400", "database": "MIM", "url": "https://www.omim.org/entry/306400" } ] }, { "disease_id": "DOID:0112000", "recommended_name": { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "immunodeficiency 34", "description": "A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4." }, "synonyms": [ { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency", "description": "" }, { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "AMCBX2", "description": "" }, { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "IMD34", "description": "" }, { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "X-linked MSMD due to CYBB deficiency", "description": "" }, { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "familial atypical mycobacteriosis X-linked 2", "description": "" }, { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "immunodeficiency 34, mycobacteriosis, X-linked", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency", "description": "Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "CYBB X-linked mendelian susceptibility to mycobacterial diseases", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "X-linked MSMD due to CYBB deficiency", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "immunodeficiency type 34", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "IMD34", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "atypical Mycobacteriosis, familial, X-linked 2", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "immunodeficiency 34", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "immunodeficiency 34, Mycobacteriosis, X-linked", "description": "" }, { "id": "MIM:300645", "resource": "MIM", "url": "https://www.omim.org/entry/300645", "name": "Immunodeficiency 34", "description": "Immunodeficiency 34" } ], "evidence": [ { "id": "300645", "database": "MIM", "url": "https://www.omim.org/entry/300645" } ] }, { "disease_id": "DOID:3265", "recommended_name": { "id": "DOID:3265", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3265", "name": "chronic granulomatous disease", "description": "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed." }, "synonyms": [ { "id": "DOID:3265", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3265", "name": "Bridges-Good syndrome", "description": "" }, { "id": "DOID:3265", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3265", "name": "CGD", "description": "" }, { "id": "DOID:3265", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3265", "name": "Congenital dysphagocytosis", "description": "" }, { "id": "DOID:3265", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3265", "name": "Quie syndrome", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "granulomatous disease, 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X-linked", "description": "Granulomatous disease, chronic, X-linked" } ], "evidence": [ { "id": "306400", "database": "MIM", "url": "https://www.omim.org/entry/306400" } ] } ], "snv": [ { "evidence": [ { "id": "P04839", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04839" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 134, "end_pos": 134, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NNS->NNF).", "chr_id": "X", "chr_pos": "37793728", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S134", "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" ] }, { "evidence": [ { "id": "rs1929244686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1929244686" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 149, "end_pos": 149, "sequence_org": "N", "sequence_mut": "null", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NES->nullES).", "chr_id": "X", "chr_pos": "37793773", "ref_nt": "l", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N149", "disease": [ { "disease_id": "DOID:0070195", "recommended_name": { "id": "DOID:0070195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070195", "name": "X-linked chronic granulomatous disease", "description": "A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4." }, "synonyms": [ { "id": "DOID:0070195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070195", "name": "X-linked chronic cytochrome b-negative granulomatous disease", "description": "" }, { "id": "DOID:0070195", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070195", "name": "CDGX", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": 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"chronic granulomatous disease, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "chronic granulomatous disease, atypical", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "cytochrome B-negative granulomatous disease, chronic, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "cytochrome B-positive granulomatous disease, chronic, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "granulomatous disease, chronic, X-linked", "description": "" }, { "id": "MONDO:0010600", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010600", "name": "granulomatous disease, chronic, 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"Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "IMD34", "description": "" }, { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "X-linked MSMD due to CYBB deficiency", "description": "" }, { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "familial atypical mycobacteriosis X-linked 2", "description": "" }, { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "immunodeficiency 34, mycobacteriosis, X-linked", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency", "description": "Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a 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"Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "IMD34", "description": "" }, { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "X-linked MSMD due to CYBB deficiency", "description": "" }, { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "familial atypical mycobacteriosis X-linked 2", "description": "" }, { "id": "DOID:0112000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112000", "name": "immunodeficiency 34, mycobacteriosis, X-linked", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency", "description": "Any X-linked Mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene." }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "CYBB X-linked mendelian susceptibility to mycobacterial diseases", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "X-linked MSMD due to CYBB deficiency", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "immunodeficiency 34, mycobacteriosis, X-linked, X-linked recessive", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "immunodeficiency type 34", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "IMD34", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "atypical Mycobacteriosis, familial, X-linked 2", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "immunodeficiency 34", "description": "" }, { "id": "MONDO:0010389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010389", "name": "immunodeficiency 34, Mycobacteriosis, X-linked", "description": "" }, { "id": "MIM:300645", "resource": "MIM", "url": "https://www.omim.org/entry/300645", "name": "Immunodeficiency 34", "description": "Immunodeficiency 34" } ] } ] }, { "evidence": [ { "id": "rs147991211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147991211" }, { "id": "rs147991211", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs147991211" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 545, "end_pos": 545, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TLS->NLS).", "chr_id": "X", "chr_pos": "37810838", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T545", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "67.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "77.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "83.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "62.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "95.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "66.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "68.04", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "71.52", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "81.06", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "71.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "76.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000165168", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000165168" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P04839", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04839" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "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", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "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": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", 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"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 mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P04839", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04839" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04839", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04839" } ], "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/P04839" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"tr|A0A8Q3SIF1-1|A0A8Q3SIF1_HUMAN Computationally mapped isoform of Cytochrome b-245 beta chain OS=Homo sapiens OX=9606 GN=CYBB PE=1 SV=1 CANONICAL=P04839-1" }, "locus": { "chromosome": "X", "start_pos": 37799001, "end_pos": 37780078, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696172.1", "url": "https://www.ensembl.org/id/ENST00000696172.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512463.1", "url": "https://www.ensembl.org/id/ENSP00000512463.1" } ] } }, { "isoform_ac": "A0A8Q3SIJ1-1", "url": "", "sequence": { "sequence": "MGNWAVNEGLSIFVISALALARAPAACLNFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGVVITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHNITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKVVTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASILKSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYLTGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPEALAETLSKQSISNSESGPRGVHFIFNKENF", "length": 538, "header": "tr|A0A8Q3SIJ1-1|CY24B_HUMAN Computationally mapped isoform of Cytochrome b-245 heavy chain OS=Homo sapiens OX=9606 GN=CYBB PE=1 SV=1 CANONICAL=P04839-1" }, "locus": { "chromosome": "X", "start_pos": 37810914, "end_pos": 37780078, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696171.1", "url": "https://www.ensembl.org/id/ENST00000696171.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512462.1", "url": "https://www.ensembl.org/id/ENSP00000512462.1" } ] } }, { "isoform_ac": "A0A8Q3WMA3-1", "url": "", "sequence": { "sequence": "MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACLNFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMIALHSEP", "length": 114, "header": "tr|A0A8Q3WMA3-1|A0A8Q3WMA3_HUMAN Computationally mapped isoform of Cytochrome b-245 beta chain OS=Homo sapiens OX=9606 GN=CYBB PE=1 SV=1 CANONICAL=P04839-1" }, "locus": { "chromosome": "X", "start_pos": 37795955, "end_pos": 37780078, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696170.1", "url": "https://www.ensembl.org/id/ENST00000696170.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512461.1", "url": "https://www.ensembl.org/id/ENSP00000512461.1" } ] } }, { "isoform_ac": "P04839-1", "url": "", "sequence": { "sequence": "MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACLNFNCMLILLPVCRNLLSFLRGSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGVVITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHNITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKVVTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASILKSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYLTGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPEALAETLSKQSISNSESGPRGVHFIFNKENF", "length": 570, "header": "sp|P04839-1|CY24B_HUMAN Isoform 1 of Cytochrome b-245 heavy chain OS=Homo sapiens OX=9606 GN=CYBB PE=1 SV=2 CANONICAL=P04839-1" }, "locus": { "chromosome": "X", "start_pos": 37810914, "end_pos": 37780078, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000378588.5", "url": "https://www.ensembl.org/id/ENST00000378588.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000367851.4", "url": "https://www.ensembl.org/id/ENSP00000367851.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 122, "start_aa": "Asn", "end_pos": 122, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn122", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 132, "start_aa": "Asn", "end_pos": 132, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn132", "evidence": [ { "id": "P04839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04839#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 133, "start_aa": "Asn", "end_pos": 133, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn133", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G51640FO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 149, "start_aa": "Asn", "end_pos": 149, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn149", "evidence": [ { "id": "1165", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1165" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G84820NF", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 149, "start_aa": "Asn", "end_pos": 149, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn149", "evidence": [ { "id": "1165", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1165" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 149, "start_aa": "Asn", "end_pos": 149, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn149", "evidence": [ { "id": "P04839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04839#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 154, "start_aa": "Asn", "end_pos": 154, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn154", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 240, "start_aa": "Asn", "end_pos": 240, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn240", "evidence": [ { "id": "P04839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04839#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "automatic_literature_mining", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 429, "start_aa": "Asn", "end_pos": 429, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn429", "evidence": [ { "id": "9032440", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/9032440" }, { "id": "9032440", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9032440" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "NADPH oxidase: an update.", "journal": "Blood", "date": "1999", "authors": "Babior BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10029572", "url": "https://glygen.org/publication/PubMed/10029572" } ] }, { "title": "Vascular endothelial growth factor receptor KDR tyrosine kinase activity is increased by autophosphorylation of two activation loop tyrosine residues.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Kendall RL, Rutledge RZ, Mao X, Tebben AJ, Hungate RW, Thomas KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4420097", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420097" } ], "reference": [ { "type": "PubMed", "id": "10037737", "url": "https://glygen.org/publication/PubMed/10037737" } ] }, { "title": "Deficiency of the hematopoietic cell-specific Rho family GTPase Rac2 is characterized by abnormalities in neutrophil function and host defense.", "journal": "Immunity", "date": "1999", "authors": "Roberts AW, Kim C, Zhen L, Lowe JB, Kapur R, Petryniak B, Spaetti A, Pollock JD, Borneo JB, Bradford GB, Atkinson SJ, Dinauer MC, Williams DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" } ], "reference": [ { "type": "PubMed", "id": "10072071", "url": "https://glygen.org/publication/PubMed/10072071" } ] }, { "title": "Multisite autophosphorylation of p21-activated protein kinase gamma-PAK as a function of activation.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Gatti A, Huang Z, Tuazon PT, Traugh JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-4420097", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420097" } ], "reference": [ { "type": "PubMed", "id": "10075701", "url": "https://glygen.org/publication/PubMed/10075701" } ] }, { "title": "Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.", "journal": "Experimental hematology", "date": "1999", "authors": "Roesler J, Heyden S, Burdelski M, Schafer H, Kreth HW, Lehmann R, Paul D, Marzahn J, Gahr M, Rosen-Wolff A", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "reference": [ { "type": "PubMed", "id": "10089913", "url": "https://glygen.org/publication/PubMed/10089913" } ] }, { "title": "Regulation of actin dynamics by stress-activated protein kinase 2 (SAPK2)-dependent phosphorylation of heat-shock protein of 27 kDa (Hsp27).", "journal": "Biochemical Society symposium", "date": "1999", "authors": "Landry J, Huot J", "evidence": [ { "database": "Reactome", "id": "R-HSA-4420097", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420097" } ], "reference": [ { "type": "PubMed", "id": "10207622", "url": "https://glygen.org/publication/PubMed/10207622" } ] }, { "title": "Expression, purification and crystallization of a BH domain from the GTPase regulatory protein associated with focal adhesion kinase.", "journal": "Acta crystallographica. Section D, Biological crystallography", "date": "1999", "authors": "Sheffield PJ, Derewenda U, Taylor J, Parsons TJ, Derewenda ZS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10232922", "url": "https://glygen.org/publication/PubMed/10232922" } ] }, { "title": "Mechanisms of phagocytosis in macrophages.", "journal": "Annual review of immunology", "date": "1999", "authors": "Aderem A, Underhill DM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1236973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1236973" } ], "reference": [ { "type": "PubMed", "id": "10358769", "url": "https://glygen.org/publication/PubMed/10358769" } ] }, { "title": "Tyrosine phosphorylation of Vav stimulates IL-6 production in mast cells by a Rac/c-Jun N-terminal kinase-dependent pathway.", "journal": "Journal of immunology (Baltimore, Md. : 1950)", "date": "1999", "authors": "Song JS, Haleem-Smith H, Arudchandran R, Gomez J, Scott PM, Mill JF, Tan TH, Rivera J", "evidence": [ { "database": "Reactome", "id": "R-HSA-4420097", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4420097" } ], "reference": [ { "type": "PubMed", "id": "10395673", "url": "https://glygen.org/publication/PubMed/10395673" } ] }, { "title": "Priming of human neutrophil respiratory burst by granulocyte/macrophage colony-stimulating factor (GM-CSF) involves partial phosphorylation of p47(phox).", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Dang PM, Dewas C, Gaudry M, Fay M, Pedruzzi E, Gougerot-Pocidalo MA, El Benna J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" } ], "reference": [ { "type": "PubMed", "id": "10400704", "url": "https://glygen.org/publication/PubMed/10400704" } ] }, { "title": "Tetratricopeptide repeat (TPR) motifs of p67(phox) participate in interaction with the small GTPase Rac and activation of the phagocyte NADPH oxidase.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Koga H, Terasawa H, Nunoi H, Takeshige K, Inagaki F, Sumimoto H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5668599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668599" } ], "reference": [ { "type": "PubMed", "id": "10455184", "url": "https://glygen.org/publication/PubMed/10455184" } ] }, { "title": "Association of frabin with the actin cytoskeleton is essential for microspike formation through activation of Cdc42 small G protein.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Umikawa M, Obaishi H, Nakanishi H, Satoh-Horikawa K, Takahashi K, Hotta I, Matsuura Y, Takai Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10464238", "url": "https://glygen.org/publication/PubMed/10464238" } ] }, { "title": "The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Joberty G, Perlungher RR, Macara IG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10490598", "url": "https://glygen.org/publication/PubMed/10490598" } ] }, { "title": "Sema3A-induced growth-cone collapse is mediated by Rac1 amino acids 17-32.", "journal": "Current biology : CB", "date": "1999", "authors": "Vastrik I, Eickholt BJ, Walsh FS, Ridley A, Doherty P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10508610", "url": "https://glygen.org/publication/PubMed/10508610" } ] }, { "title": "Characterization of human and murine PMP20 peroxisomal proteins that exhibit antioxidant activity in vitro.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Yamashita H, Avraham S, Jiang S, London R, Van Veldhoven PP, Subramani S, Rogers RA, Avraham H", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10514471", "url": "https://glygen.org/publication/PubMed/10514471" } ] }, { "title": "Cloning and characterization of AOEB166, a novel mammalian antioxidant enzyme of the peroxiredoxin family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Knoops B, Clippe A, Bogard C, Arsalane K, Wattiez R, Hermans C, Duconseille E, Falmagne P, Bernard A", "evidence": [ { "database": "Reactome", "id": "R-HSA-3299685", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3299685" } ], "reference": [ { "type": "PubMed", "id": "10521424", "url": "https://glygen.org/publication/PubMed/10521424" } ] }, { "title": "Dependence of Dbl and Dbs transformation on MEK and NF-kappaB activation.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Whitehead IP, Lambert QT, Glaven JA, Abe K, Rossman KL, Mahon GM, Trzaskos JM, Kay R, Campbell SL, Der CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10523665", "url": "https://glygen.org/publication/PubMed/10523665" } ] }, { "title": "Biological and regulatory properties of Vav-3, a new member of the Vav family of oncoproteins.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Movilla N, Bustelo XR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10523675", "url": "https://glygen.org/publication/PubMed/10523675" } ] }, { "title": "Rho-specific binding and guanine nucleotide exchange catalysis by KIAA0380, a dbl family member.", "journal": "FEBS letters", "date": "1999", "authors": "Rumenapp U, Blomquist A, Schworer G, Schablowski H, Psoma A, Jakobs KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10526156", "url": "https://glygen.org/publication/PubMed/10526156" } ] }, { "title": "Identification and characterization of hPEM-2, a guanine nucleotide exchange factor specific for Cdc42.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Reid T, Bathoorn A, Ahmadian MR, Collard JG", "evidence": [ { "database": "Reactome", "id": "R-HSA-9013149", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013149" } ], "reference": [ { "type": "PubMed", "id": "10559246", "url": "https://glygen.org/publication/PubMed/10559246" } ] }, { "title": "Evidence that the product of the human X-linked CGD gene, gp91-phox, is a voltage-gated H(+) pathway.", "journal": "J. Gen. 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"GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "cellular response to ethanol", "id": "GO:0071361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071361", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "hydrogen peroxide biosynthetic process", "id": "GO:0050665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050665", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "cellular response to cadmium ion", "id": "GO:0071276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071276", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "electron transport chain", "id": "GO:0022900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022900", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "response to aldosterone", "id": "GO:1904044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904044", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "cellular response to L-glutamine", "id": "GO:1904845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904845", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "respiratory burst", "id": "GO:0045730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045730", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "superoxide metabolic process", "id": "GO:0006801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006801", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "hypoxia-inducible factor-1alpha signaling pathway", "id": "GO:0097411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097411", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "response to angiotensin", "id": "GO:1990776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990776", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "superoxide anion generation", "id": "GO:0042554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042554", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "superoxide-generating NAD(P)H oxidase activity", "id": "GO:0016175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016175", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor", "id": "GO:0050664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050664", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 132, "end_pos": 134, "annotation": "n_glycosylation_sequon" }, { "start_pos": 149, "end_pos": 151, "annotation": "n_glycosylation_sequon" }, { "start_pos": 240, "end_pos": 242, "annotation": "n_glycosylation_sequon" }, { "start_pos": 430, "end_pos": 432, "annotation": "n_glycosylation_sequon" }, { "start_pos": 97, "end_pos": 99, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Glycosylated.", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" }, { "database": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "annotation": "Phosphorylated on Ser and Thr residues.", "evidence": [ { "database": "UniProtKB", "id": "P04839", "url": "https://www.uniprot.org/uniprot/P04839" }, { "database": "PubMed", "id": "19028840", "url": "https://glygen.org/publication/PubMed/19028840" } ] } ], "interactions": [], "reactions": [ { "id": "R-HSA-1222376", "name": "NOX2 generates superoxide from oxygen", "equation": "", "summary": "Macrophage NOX2 is a membrane complex that generates superoxide anions by reduction of oxygen with NADPH (Babior 1999, Dinauer et al. 1991).", "cellular_location": "cytosol, phagocytic vesicle membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04839-1" ], "evidence": [ { "id": "R-HSA-1222376", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1222376" } ] }, { "id": "R-HSA-1236967", "name": "Alkalization of the phagosomal lumen by NOX2", "equation": "", "summary": "After the fusion of phagosome and lysosome lumen acidity rises and the activity of lysosomal proteases increases, conferring proteolytic ability. However antigens must be spared from complete proteolytic destruction. Dendritic cells (DCs) achieve this by regulating the level of proteolysis and phagosomal acidification. DCs recruit the NADPH oxidase NOX2 to the phagosome and mediate sustained production of low levels of reactive oxygen species (ROS), causing active alkalization of the phagosomal lumen (Savina et al. 2006, Ramachandra et al. 2009). NOX2 consumes oxygen and protons (pumped by V-ATPase or other H+ voltage-gated channels) to produce ROS and this lowers phagosome acidity. This apparently reduces antigen proteolysis to a level that allows processing but does not fully destroy the antigenic peptides, favouring increased MHC-I cross presentation (Ramachandra et al. 2009). Rab27a controls the recruitment of NOX2 to DC phagosomes (Savina et al. 2007).", "cellular_location": "cytosol, phagolysosome", "input_participant_list": [ "R-ALL-2000347" ], "output_participant_list": [ "R-ALL-2000348", "R-ALL-2000349" ], "enzyme_list": [ "P04839-1" ], "evidence": [ { "id": "R-HSA-1236967", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1236967" } ] }, { "id": "R-HSA-5218827", "name": "NADPH oxidase 2 (NOX2) complex binds RAC1", "equation": "", "summary": "NADPH oxidase (NOX) proteins are membrane-associated, multiunit enzymes that catalyze the reduction of oxygen using NADPH as an electron donor. NOX proteins produce superoxide (O2.-) via a single electron reduction (Brown & Griendling 2009). Superoxide molecules function as second messengers to stimulate diverse redox signaling pathways linked to various functions including angiogenesis. VEGF specifically stimulates superoxide production via RAC1 dependent activation of NOX2 complex. VEGF rapidly activates RAC1 and promotes translocation of RAC1 from cytosol to the membrane. At the membrane RAC1 interacts with the NOX enzyme complex via a direct interaction with NOX2 (gp91phox or CYBB) followed by subsequent interaction with the NCF2 (Neutrophil cytosol factor 2) or p67phox subunit and this makes the complex active (Bedard & Krause 2007). O2.- derived from Rac1-dependent NOX2 are involved in oxidation and inactivation of protein tyrosine phosphatases (PTPs) which negatively regulate VEGFR2, thereby enhancing VEGFR2 autophosphorylation, and subsequent redox signaling linked to angiogenic responses such as endothelial cell proliferation and migration (Ushio-Fukai 2006, 2007).", "cellular_location": "plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P63000-1", "P04839-1" ], "evidence": [ { "id": "R-HSA-5218827", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5218827" } ] }, { "id": "R-HSA-5218841", "name": "NADPH oxidase 2 generates superoxide from oxygen", "equation": "", "summary": "The activated NOX2 complex generates superoxide (O2.-) by transferring an electron from NADPH in the cytosol to oxygen on the luminal or extracellular space (Bedard & Krause 2007).", "cellular_location": "cytosol, extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P63000-1", "P04839-1" ], "evidence": [ { "id": "R-HSA-5218841", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5218841" } ] }, { "id": "R-HSA-5668605", "name": "RAC2:GTP binds NOX2 complex", "equation": "", "summary": "In neutrophils, RAC2 regulates NADPH oxidase NOX2 complex (Knaus et al. 1991, Kim et al. 2001) which consists of CYBB (NOX2), CYBA (p22phox), NCF1 (p47phox), NCF2 (p67phox) and NCF4 (p40phox). GTP-bound RAC2 binds to a conserved region of CYBB and tetratricopeptide repeats of NCF2 (Koga et al. 1999, Lapouge et al. 2000, Kao et al. 2008).", "cellular_location": "phagocytic vesicle membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04839-1" ], "evidence": [ { "id": "R-HSA-5668605", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668605" } ] }, { "id": "R-HSA-5668629", "name": "Production of phagocyte oxygen radicals by NOX2 complex bound to RAC2:GTP", "equation": "", "summary": "RAC2:GTP-bound NOX2 complex, consisting of CYBB (NOX2), CYBA (p22phox), NCF1 (p47phox), NCF2 (p67phox) and NCF4 (p40phox), acts as an NADPH oxidase to produce superoxide anion O2- in phagosomes of neutorphils, enabling microbicidal activity of neutrophils (Knaus et al. 1991, Kim et al. 2001, Kao et al. 2008, Anderson et al. 2010, Jyoti et al. 2014). Rac2 knockout mice have dramatically reduced NADPH oxidase activity (Roberts et al. 1999). Phosphorylation of NOX2 complex components NCF1 (el Benna et al. 1994), NCF2 (Zhao et al. 2005) and NCF4 (Bouin et al. 1998) contributes to the activation of the phagosomal NADPH oxidase.", "cellular_location": "cytosol, phagocytic vesicle, phagocytic vesicle membrane, phagolysosome", "input_participant_list": [ "R-ALL-1236709" ], "output_participant_list": [ "R-ALL-2000345" ], "enzyme_list": [ "P04839-1" ], "evidence": [ { "id": "R-HSA-5668629", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5668629" } ] }, { "id": "R-HSA-6789092", "name": "NOX2 generates superoxide anion from oxygen", "equation": "", "summary": "Phagocytic cells kill microorganisms by ingesting them into phagocytic vacuoles (phagosomes). Phagocytosis is accompanied by the activation of the NADPH oxidase (NOX2 complex), a multiprotein enzyme complex, that assembles in the phagosomal membrane (Winterbourn C et al. 2006). The NOX2 complex shuttles electrons from NADPH in the cytoplasm across the membrane to oxygen in the phagosomal lumen converting oxygen into the superoxide radical anion (O2.-). As this electron transfer creates a charge imbalance that would otherwise depolarize the membrane, NADPH oxidase activity is accompanied by activation of the V-ATPase and voltage-gated proton channel (Demaurex N & El Chemaly A 2010; El Chemaly A et al. 2010; Nunes P et al. 2013).

Defects in NADPH oxidase components are associated with chronic granulomatous disease (CGD) (de Oliveira-Junior EB et al. 2011). Phagocytic cells of CGD patients are unable to produce superoxide ion, and their efficiency in bacterial killing is significantly impaired (Johnston RB Jr et al. 1975; de Oliveira-Junior EB et al. 2011). In addition, macrophages from CGD patients exhibit abnormal function because these cells release higher levels of anti-inflammatory cytokines and lower levels of proinflammatory cytokines in response to bacterial stimuli (Rahman FZ et al. 2009).", "cellular_location": "cytosol, phagocytic vesicle membrane, phagocytic vesicle lumen", "input_participant_list": [ "R-ALL-1222561" ], "output_participant_list": [ "R-ALL-1222461" ], "enzyme_list": [ "P04839-1" ], "evidence": [ { "id": "R-HSA-6789092", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6789092" } ] }, { "id": "R-HSA-6798747", "name": "Exocytosis of tertiary granule membrane 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 required for neutrophil extravasation and diapedesis (Faurschou & Borregaard 2003).", "cellular_location": "plasma membrane, tertiary granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P01111-1", "Q13393-1", "Q9Y3L5-1", "P61225-1", "O43451-2", "P00749-1", "O14672-1", "P78325-1", "Q8TF62-1", "P98196-1", "Q13303-1", "P10253-1", "Q5T4S7-1", "P04839-1", "Q68CP4-1", "P23467-1" ], "evidence": [ { "id": "R-HSA-6798747", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798747" } ] }, { "id": "R-HSA-6799350", "name": "Exocytosis of specific granule membrane 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 may 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": "plasma membrane, specific granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q13393-1", "P61225-1", "O15120-1", "Q9NPA2-1", "P62834-1", "P00749-1", "O14672-1", "P78325-1", "P43353-1", "Q8TF62-1", "P98196-1", "Q9Y2Q0-1", "Q12913-1", "Q13303-1", "O15121-1", "O75907-1", "O14975-1", "Q5T4S7-1", "Q10588-1", "P04839-1", "Q68CP4-1", "P23467-1", "P30519-1", "O94804-1" ], "evidence": [ { "id": "R-HSA-6799350", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799350" } ] }, { "id": "R-HSA-6807557", "name": "NOX4, NOX5 reduce O2 to O2.-", "equation": "", "summary": "NADPH oxidases 4 and 5 (NOX4, 5) are ER membrane-bound proteins that generates superoxide (O2.-) in endothelial cells (BelAiba et al. 2007). NOX4 functions in association with cytochrome b heterodimer (CYBA:CYBB) on the ER (and nuclear) membrane (Martyn et al. 2006).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96PH1-1", "P04839-1", "Q9NPH5-1" ], "evidence": [ { "id": "R-HSA-6807557", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807557" } ] }, { "id": "R-HSA-9013145", "name": "RAC1 binds effectors at the plasma membrane", "equation": "", "summary": "In its GTP bound active form, plasma membrane associated RAC1 binds to the following cytosolic and plasma membrane effectors:
BAIAP2 (Lewis Saravalli et al. 2013, Bagci et al. 2020)
CAV1 (Nethe et al. 2010, Bagci et al. 2020)
CDC42BPA (Schwarz et al. 2012)
CIT (Madaule et al. 1995)
CIT 3 (Di Cunto et al. 1998)
CYFIP1 (Schneck et al. 2003, Bagci et al. 2020)
FMNL1 (Yayoshi Yamamoto et al. 2000)
IQGAP1 (Kuroda et al. 1996, Pelikan Conchaudron et al. 2011)
IQGAP2 (Brill et al. 1996, Ozdemir et al. 2018)
IQGAP3 (Wang et al. 2007)
KIAA0355 (Bagci et al. 2020: interaction studied in detail)
NISCH (Reddig et al. 2005)
NOX1 complex (Cheng et al. 2006, Miyano et al. 2006, Kao et al. 2008)
NOX2 complex (Ushio Fukai et al. 2002)
NOX3 complex (Ueyama et al. 2006, Miyano and Sumimoto 2007, Kao et al. 2008)
PAK1 (Parrini et al. 2002)
PAK2 (Manser et al. 1994, Manser et al. 1995, Bagci et al. 2020)
PAK3 (Manser et al. 1995)
PAK4 (Abo et al. 1998, Bagci et al. 2020)
PAK5 (Dan et al. 2002)
PAK6 (Lee et al. 2002)
PARD6A (Qiu et al. 2000)
PI3K alpha (Bokoch et at al. 1996, Murga et al. 2002)
PKN1 (Owen et al. 2003, Modha et al. 2008)
PKN2 (Zong et al. 1999)
PLD1 (Hammond et al. 1997)
PLD2 (Hiroyama and Exton 2005)
WAVE complex (Miki et al. 1998, Suetsugu et al. 2006, Bagci et al. 2020)

The following RAC1 effectors are annotated as candidate effectors either because of opposing finding reported in different studies or because they have only been reported in the high throughput screen by Bagci et al. 2020:
ABI1 (Bagci et al. 2020)
ABL2 (Bagci et al. 2020)
AMIGO2 (Bagci et al. 2020)
ARAP2 (Bagci et al. 2020)
BAIAP2L1 (Bagci et al. 2020)
BRK1 (Bagci et al. 2020)
CDC42 (Bagci et al. 2020)
CDC42EP1 (Bagci et al. 2020: binding to activated RAC1; Joberty et al. 1999: no binding to activated RAC1)
CDC42EP4 (Bagci et al. 2020: binding to activated RAC1; Joberty et al. 1999: no binding to activated RAC1)
DEPDC1B (Bagci et al. 2020)
DIAPH3 (Bagci et al. 2020)
EPHA2 (Bagci et al. 2020)
ERBIN (Bagci et al. 2020)
FERMT2 (Bagci et al. 2020)
GIT1 (Bagci et al. 2020)
GIT2 (Bagci et al. 2020)
ITGB1 (Bagci et al. 2020)
JAG1 (Bagci et al. 2020)
LAMTOR1 (Bagci et al. 2020)
MCAM (Bagci et al. 2020)
MPP7 (Bagci et al. 2020)
NCKAP1 (Bagci et al. 2020)
NHS (Bagci et al. 2020)
PLEKHG3 (Bagci et al. 2020)
PLEKHG4 (Bagci et al. 2020)
RAB7A (Bagci et al. 2020)
SLC1A5 (Bagci et al. 2020)
SNAP23 (Bagci et al. 2020)
SWAP70 (Bagci et al. 2020)
TAOK3 (Bagci et al. 2020)
TFRC (Bagci et al. 2020)
TMPO (Bagci et al. 2020)
VAMP3 (Bagci et al. 2020)
VANGL1 (Bagci et al. 2020)
WIP WASP complex (WAS, also known as WASP, a component of the WIP WASP complex, was reported to interact with active RAC1 by Aspenstrom et al. 1996 and Vastrik et al. 1999, but no interaction has been reported between RAC1 and WIP components of the complex, WIPF1, WIPF2 or WIPF3)

Active RAC1 does not bind the following RHO GTPase effectors:
ANKLE2 (Bagci et al. 2020)
ARFGAP3 (Bagci et al. 2020)
ARMCX3 (Bagci et al. 2020)
CDC42EP2 (Joberty et al. 1999)
CDC42EP3 (Joberty et al. 1999)
CDC42EP5 (Joberty et al. 1999)
DSG2 (Bagci et al. 2020)
DIAPH1 (Higashi et al. 2008)
DOCK1 (Bagci et al. 2020)
DOCK5 (Bagci et al. 2020)
ELMO2 (Bagci et al. 2020)
FMNL2 (Block et al. 2012)
HSPE1 (Bagci et al. 2020)
IL32 (Bagci et al. 2020)
LETM1 (Bagci et al. 2020)
LMAN1 (Bagci et al. 2020)
NDUFA5 (Bagci et al. 2020)
NDUFS3 (Bagci et al. 2020)
PGRMC2 (Bagci et al. 2020)
RAPGEF1 (Bagci et al. 2020)
ROCK1 (Leung et al. 1996)
ROCK2 (Leung et al. 1996)
RTKN (Reid et al. 1996)
SHMT2 (Bagci et al. 2020)
SLK (Yamada et al. 2000)
SLITRK3 (Bagci et al. 2020)
SLITRK5 (Bagci et al. 2020)
STBD1 (Bagci et al. 2020)
STX5 (Bagci et al. 2020)
VAPB (Bagci et al. 2020)", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O14939-1", "Q13393-1", "Q9HBY0-1", "O14578-1", "P42336-1", "Q9H2K8-1", "P42684-1", "P60953-2", "P63000-1", "Q16512-1", "Q13153-1", "Q13177-1", "Q9P286-1", "O75914-1", "O96013-1", "Q5VT25-1", "P04839-1", "P29317-1", "Q9Y5S8-1", "Q9NQU5-1", "Q16513-1", "P51149-1" ], "evidence": [ { "id": "R-HSA-9013145", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9013145" } ] }, { "id": "R-HSA-9014424", "name": "RAC2 binds effectors at the phagocytic vesicle membrane", "equation": "", "summary": "RAC2 binds to and activates the NOX2 complex and the phagocytic vesicle membrane (Knaus et al. 1991; Kim et al. 2001; Carstanjen et al. 2005).", "cellular_location": "phagocytic vesicle membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04839-1" ], "evidence": [ { "id": "R-HSA-9014424", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9014424" } ] }, { "id": "R-HSA-9018808", "name": "RAC3 binds effectors at the plasma membrane", "equation": "", "summary": "In its active form, plasma membrane associated RAC3 binds to the following effectors:
NOX1 complex (Miyano et al. 2009)
NOX2 complex (Miyano et al. 2009)
NOX3 complex (Miyano et al. 2009)
PAK2 (Bagci et al. 2020; activation of PAK2 downstream of RAC3 was demonstrated by Mira et al. 2000, but direct binding was not tested in the study)
WAVE1 complex, through direct interaction with WASF1 (Bagci et al. 2020) and CYFIP1 (Bagci et al. 2020)
WAVE2 complex, through direct interaction with WASF2 (Bagci et al. 2020) and CYFIP1 (Bagci et al. 2020)

The following proteins are annotated as candidate RAC3 effectors because their interactions with RAC3 have not been sufficiently characterized:
ABI1 (Bagci et al. 2020)
ABI2 (Bagci et al. 2020)
ABL2 (Bagci et al. 2020)
AMIGO2 (Bagci et al. 2020)
BAIAP2 (Bagci et al. 2020)
BAIAP2L1 (Bagci et al. 2020)
BRK1 (Bagci et al. 2020)
CAV1 (Bagci et al. 2020)
CDC42 (Bagci et al. 2020)
CDC42EP1 (Bagci et al. 2020)
DEPDC1B (Bagci et al. 2020)
DIAPH3 (Bagci et al. 2020)
DSG2 (Bagci et al. 2020)
EPHA2 (Bagci et al. 2020)
ERBIN (Bagci et al. 2020)
FERMT2 (Bagci et al. 2020)
GIT1 (Bagci et al. 2020)
GIT2 (Bagci et al. 2020)
IL32 (Bagci et al. 2020)
ITGB1 (Bagci et al. 2020)
JAG1 (Bagci et al. 2020)
KIAA0355 (Bagci et al. 2020)
LAMTOR1 (Bagci et al. 2020)
MCAM (Bagci et al. 2020)
MPP7 (Bagci et al. 2020)
NCKAP1 (Bagci et al. 2020)
NHS (Bagci et al. 2020)
PAK1 (Mira et al. 2000: RAC3 induces PAK1 activation but direct interaction has not been tested)
PAK4 (Bagci et al. 2020)
RAB7A (Bagci et al. 2020)
RAPGEF1 (Bagci et al. 2020)
SLC1A5 (Bagci et al. 2020)
SLITRK3 (Bagci et al. 2020)
SLITRK5 (Bagci et al. 2020)
SNAP23 (Bagci et al. 2020)
STBD1 (Bagci et al. 2020)
SWAP70 (Bagci et al. 2020)
TAOK3 (Bagci et al. 2020)
TFRC (Bagci et al. 2020)
TMPO (Bagci et al. 2020)
VAMP3 (Bagci et al. 2020)
VANGL1 (Bagci et al. 2020)

Active RAC3 does not bind to the following established or putative RAC effectors:
ANKLE2 (Bagci et al. 2020)
ARAP2 (Bagci et al. 2020)
ARFGAP3 (Bagci et al. 2020)
ARMCX3 (Bagci et al. 2020)
CDC42EP4 (Bagci et al. 2020)
DOCK1 (Bagci et al. 2020)
DOCK5 (Bagci et al. 2020)
ELMO2 (Bagci et al. 2020)
HSPE1 (Bagci et al. 2020)
LETM1 (Bagci et al. 2020)
NDUFA5 (Bagci et al. 2020)
NDUFS3 (Bagci et al. 2020)
PLEKHG3 (Bagci et al. 2020)
PLEKHG4 (Bagci et al. 2020)
SHTM2 (Bagci et al. 2020)
STX5 (Bagci et al. 2020)
VAPB (Bagci et al. 2020)", "cellular_location": "cytosol, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9HBY0-1", "P60763-1", "Q9H2K8-1", "P42684-1", "P60953-2", "Q13153-1", "Q13177-1", "O96013-1", "P04839-1", "P29317-1", "Q9Y5S8-1", "P51149-1" ], "evidence": [ { "id": "R-HSA-9018808", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9018808" } ] }, { "id": "R-HSA-9626848", "name": "S100A8:S100A9:AA:Ca(2+) binds NOX2 complex", "equation": "", "summary": "Ca(2+) flux across the phagosomal membrane influences NADPH oxidase activity and ROS production. Phagocytic engagement of Fc gamma receptor (Fc\u03b3R) or complement receptor 3 (CR3) activate phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K), leading to the formation of PI(3,4,5)P3. This phospholipid participates in the activation of phospholipase \u03b3 C (PLC\u03b3) and phospholipase D (PLD)-mediated downstream signaling pathways. The generation of IP3 by PLC\u03b3 triggers Ca(2+) release from intracellular stores (endoplasmic reticulum, ER) via the opening of IP3 receptors (IP3-R). PLD is involved in the process of sphingosine kinase-produced sphingosine 1-phosphate (S1P), leading to the depletion of intracellular Ca(2+) stores. The emptying of intracellular Ca2+ stores induces the activation of the Ca(2+) sensor stromal interaction molecule-1 (STIM1), which, in turn, activates calcium release-activated calcium channel protein 1 (ORAI1) at the plasma membrane and extracellular Ca(2+) entry. The resulting elevation of Ca(2+) mediates the recruitment of the cytosolic Ca(2+)-activated regulators S100A8 (also know as migration inhibitory factor-related proteins 8 (MRP8)) and S100A9 (MRP14) to the phagosomal membrane (Berthier S et al. 2003, 2012; Steinckwich N et al. 2011; Br\u00e9chard S et al. 2013). The translocation of S100A8:S100A9 allows the transfer of S100A9-binding arachidonic acid (AA) to cytochrome b558, favoring the conformational change of cytochrome b558 and promoting intraphagosomal NADPH oxidase activation and ROS production (Berthier S et al. 2003, 2012; Doussiere J et L. 2002; Kerkhoff C et al. 2005; Steinckwich N et al. 2011; Br\u00e9chard S et al. 2013 ). S100A8 & S100A9 exist mainly as a S100A8:S100A9 heterodimer which is termed calprotectin based on its role in innate immunity (Korndorfer IP et al. 2007). Ca(2+) is also known to stimulate formation of higher order oligomers of S100 proteins, including S100A8/S100A9 tetramers (Leukert N et al. 2006; Kornd\u00f6rfer IP et al. 2007). In addition, calprotectin has been shown to inhibit bacterial growth through chelation of extracellular manganese Mn(2+), zinc Zn(2+) and possibly iron Fe(2+) and thus restricting metal-ion availability during infection (Damo SM et al. 2013; Hayden JA et al. 2013; Brophy MB et al. 2013; Gagnon DM et al. 2015).", "cellular_location": "cytosol, phagocytic vesicle membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P04839-1" ], "evidence": [ { "id": "R-HSA-9626848", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9626848" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-1222461", "participant_name": "O2.- [phagocytic vesicle lumen]", "crossref": [ { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-1222561", "participant_name": "O2 [phagocytic vesicle lumen]", "crossref": [ { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" } ] }, { "participant_id": "R-ALL-1236709", "participant_name": "O2 [phagolysosome]", "crossref": [ { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "C00007", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001377", "database": "HMDB Metabolite", "url": "" }, { "id": "8145133", "database": "PubChem Substance", "url": "" }, { "id": "15379", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-2000345", "participant_name": "O2.- [phagolysosome]", "crossref": [ { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" }, { "id": "18421", "database": "ChEBI", "url": "" }, { "id": "HMDB0002168", "database": "HMDB Metabolite", "url": "" }, { "id": "C00704", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-2000347", "participant_name": "NADPH [phagolysosome]", "crossref": [ { "id": "HMDB0000221", "database": "HMDB Metabolite", "url": "" }, { "id": "3041", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00005", "database": "COMPOUND", "url": "" }, { "id": "000008215411", "database": "ZINC", "url": "" }, { "id": "8145663", "database": "PubChem Substance", "url": "" }, { "id": "16474", "database": "ChEBI", "url": "" }, { "id": "C00005", "database": "COMPOUND", "url": "" }, { "id": "16474", "database": "ChEBI", "url": "" }, { "id": "HMDB0000221", "database": "HMDB Metabolite", "url": "" }, { "id": "000008215411", "database": "ZINC", "url": "" }, { "id": "3041", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "8145663", "database": "PubChem Substance", "url": "" }, { "id": "C00005", "database": "COMPOUND", "url": "" }, { "id": "16474", "database": "ChEBI", "url": "" }, { "id": "HMDB0000221", "database": "HMDB Metabolite", "url": "" }, { "id": "000008215411", "database": "ZINC", "url": "" }, { "id": "3041", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "8145663", "database": "PubChem Substance", "url": "" }, { "id": "000008215411", "database": "ZINC", "url": "" }, { "id": "16474", "database": "ChEBI", "url": "" }, { "id": "8145663", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0000221", "database": "HMDB Metabolite", "url": "" }, { "id": "C00005", "database": "COMPOUND", "url": "" }, { "id": "3041", "database": "Guide to Pharmacology - Ligands", "url": "" } ] }, { "participant_id": "R-ALL-2000348", "participant_name": "NADP+ [phagolysosome]", "crossref": [ { "id": "C00006", "database": "COMPOUND", "url": "" }, { "id": "18009", "database": "ChEBI", "url": "" }, { "id": "HMDB0304435", "database": "HMDB Metabolite", "url": "" }, { "id": "000008214733", "database": "ZINC", "url": "" }, { "id": "8145192", "database": "PubChem Substance", "url": "" }, { "id": "3045", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "8145192", "database": "PubChem Substance", "url": "" }, { "id": "C00006", "database": "COMPOUND", "url": "" }, { "id": "HMDB0304435", "database": "HMDB Metabolite", "url": "" }, { "id": "3045", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "000008214733", "database": "ZINC", "url": "" }, { "id": "18009", "database": "ChEBI", "url": "" }, { "id": "000008214733", "database": "ZINC", "url": "" }, { "id": "18009", "database": "ChEBI", "url": "" }, { "id": "3045", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00006", "database": "COMPOUND", "url": "" }, { "id": "HMDB0304435", "database": "HMDB Metabolite", "url": "" }, { "id": "8145192", "database": "PubChem Substance", "url": "" }, { "id": "C00006", "database": "COMPOUND", "url": "" }, { "id": "18009", "database": "ChEBI", "url": "" }, { "id": "HMDB0304435", "database": "HMDB Metabolite", "url": "" }, { "id": "000008214733", "database": "ZINC", "url": "" }, { "id": "8145192", "database": "PubChem Substance", "url": "" }, { "id": "3045", "database": "Guide to Pharmacology - Ligands", "url": "" } ] }, { "participant_id": "R-ALL-2000349", "participant_name": "H+ [phagolysosome]", "crossref": [ { "id": "C00080", "database": "COMPOUND", "url": "" }, { "id": "15378", "database": "ChEBI", "url": "" }, { "id": "HMDB0059597", "database": "HMDB Metabolite", "url": "" }, { "id": "8145820", "database": "PubChem Substance", "url": "" }, { "id": "8145820", "database": "PubChem Substance", "url": "" }, { "id": "15378", "database": "ChEBI", "url": "" }, { "id": "C00080", "database": "COMPOUND", "url": "" }, { "id": "HMDB0059597", "database": "HMDB Metabolite", "url": "" }, { "id": "15378", "database": "ChEBI", "url": "" }, { "id": "8145820", "database": "PubChem Substance", "url": "" }, { "id": "C00080", "database": "COMPOUND", "url": "" }, { "id": "HMDB0059597", "database": "HMDB Metabolite", "url": "" }, { "id": "C00080", "database": "COMPOUND", "url": "" }, { "id": "15378", "database": "ChEBI", "url": "" }, { "id": "HMDB0059597", "database": "HMDB Metabolite", "url": "" }, { "id": "8145820", "database": "PubChem Substance", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O14578", "gene_name": "CIT", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O14578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14578" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "O14578", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14578" } ] } ] }, { "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": "O14939", "gene_name": "PLD2", "activity": [ { "ec_number": "3.1.4.4", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphate + choline + H(+).", "evidence": [ { "id": "O14939", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14939" } ] }, { "ec_number": "3.1.4.4", "activity": "", "evidence": [ { "id": "O14939", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14939" } ] } ] }, { "uniprot_ac": "O14975", "gene_name": "SLC27A2", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.-", "activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.7", "activity": "(25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oate + ATP + CoA = (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.24", "activity": "3,7,11,15-tetramethylhexadecanoate + ATP + CoA = AMP + diphosphate + phytanoyl-CoA.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.15", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] } ] }, { "uniprot_ac": "O15120", "gene_name": "AGPAT2", "activity": [ { "ec_number": "2.3.1.51", "activity": "a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA.", "evidence": [ { "id": "O15120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15120" } ] }, { "ec_number": "2.3.1.51", "activity": "", "evidence": [ { "id": "O15120", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15120" } ] } ] }, { "uniprot_ac": "O15121", "gene_name": "DEGS1", "activity": [ { "ec_number": "1.14.19.17", "activity": "an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "O15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15121" } ] }, { "ec_number": "5.2.1.-", "activity": "", "evidence": [ { "id": "O15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15121" } ] }, { "ec_number": "1.14.19.17", "activity": "", "evidence": [ { "id": "O15121", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15121" } ] } ] }, { "uniprot_ac": "O43451", "gene_name": "MGAM", "activity": [ { "ec_number": "3.2.1.20", "activity": "Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.", "evidence": [ { "id": "O43451", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43451" } ] } ] }, { "uniprot_ac": "O75907", "gene_name": "DGAT1", "activity": [ { "ec_number": "2.3.1.20", "activity": "a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA.", "evidence": [ { "id": "O75907", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75907" } ] }, { "ec_number": "2.3.1.76", "activity": "all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA.", "evidence": [ { "id": "O75907", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75907" } ] }, { "ec_number": "2.3.1.20", "activity": "", "evidence": [ { "id": "O75907", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75907" } ] } ] }, { "uniprot_ac": "O75914", "gene_name": "PAK3", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O75914", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75914" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "O75914", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75914" } ] } ] }, { "uniprot_ac": "O94804", "gene_name": "STK10", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O94804", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94804" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "O94804", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O94804" } ] } ] }, { "uniprot_ac": "O96013", "gene_name": "PAK4", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "O96013", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96013" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "O96013", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96013" } ] } ] }, { "uniprot_ac": "P00749", "gene_name": "PLAU", "activity": [ { "ec_number": "3.4.21.73", "activity": "Specific cleavage of Arg-|-Val bond in plasminogen to form plasmin.", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00749" } ] }, { "ec_number": "3.4.21.73", "activity": "", "evidence": [ { "id": "P00749", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00749" } ] } ] }, { "uniprot_ac": "P01111", "gene_name": "NRAS", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01111" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P01111", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P01111" } ] } ] }, { "uniprot_ac": "P04839", "gene_name": "CYBB", "activity": [ { "ec_number": "1.-.-.-", "activity": "", "evidence": [ { "id": "P04839", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04839" } ] } ] }, { "uniprot_ac": "P10253", "gene_name": "GAA", "activity": [ { "ec_number": "3.2.1.20", "activity": "Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10253" } ] }, { "ec_number": "3.2.1.20", "activity": "", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10253" } ] } ] }, { "uniprot_ac": "P23467", "gene_name": "PTPRB", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23467" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "P23467", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P23467" } ] } ] }, { "uniprot_ac": "P29317", "gene_name": "EPHA2", "activity": [ { "ec_number": "2.7.10.1", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P29317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29317" } ] }, { "ec_number": "2.7.10.1", "activity": "", "evidence": [ { "id": "P29317", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P29317" } ] } ] }, { "uniprot_ac": "P30519", "gene_name": "HMOX2", "activity": [ { "ec_number": "1.14.14.18", "activity": "heme b + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = biliverdin IXalpha + CO + Fe(2+) + H(+) + 3 H2O + 3 oxidized [NADPH--hemoprotein reductase].", "evidence": [ { "id": "P30519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30519" } ] }, { "ec_number": "1.14.14.18", "activity": "", "evidence": [ { "id": "P30519", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P30519" } ] } ] }, { "uniprot_ac": "P42336", "gene_name": "PIK3CA", "activity": [ { "ec_number": "2.7.1.153", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + ADP + H(+).", "evidence": [ { "id": "P42336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42336" } ] }, { "ec_number": "2.7.1.153", "activity": "", "evidence": [ { "id": "P42336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42336" } ] }, { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "P42336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42336" } ] }, { "ec_number": "2.7.1.137", "activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + ADP + H(+).", "evidence": [ { "id": "P42336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42336" } ] }, { "ec_number": "2.7.1.137", "activity": "", "evidence": [ { "id": "P42336", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42336" } ] } ] }, { "uniprot_ac": "P42684", "gene_name": "ABL2", "activity": [ { "ec_number": "2.7.10.2", "activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].", "evidence": [ { "id": "P42684", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42684" } ] }, { "ec_number": "2.7.10.2", "activity": "", "evidence": [ { "id": "P42684", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42684" } ] } ] }, { "uniprot_ac": "P43353", "gene_name": "ALDH3B1", "activity": [ { "ec_number": "1.2.1.5", "activity": "an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.28", "activity": "benzaldehyde + H2O + NAD(+) = benzoate + 2 H(+) + NADH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.7", "activity": "benzaldehyde + H2O + NADP(+) = benzoate + 2 H(+) + NADPH.", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.7", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.5", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] }, { "ec_number": "1.2.1.28", "activity": "", "evidence": [ { "id": "P43353", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43353" } ] } ] }, { "uniprot_ac": "P51149", "gene_name": "RAB7A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51149" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51149", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51149" } ] } ] }, { "uniprot_ac": "P60763", "gene_name": "RAC3", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60763" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60763", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60763" } ] } ] }, { "uniprot_ac": "P60953", "gene_name": "CDC42", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P60953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60953" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P60953", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P60953" } ] } ] }, { "uniprot_ac": "P61225", "gene_name": "RAP2B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61225", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61225" } ] } ] }, { "uniprot_ac": "P62834", "gene_name": "RAP1A", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P62834", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62834" } ] } ] }, { "uniprot_ac": "P63000", "gene_name": "RAC1", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63000" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P63000", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P63000" } ] } ] }, { "uniprot_ac": "P78325", "gene_name": "ADAM8", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "P78325", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P78325" } ] } ] }, { "uniprot_ac": "P98196", "gene_name": "ATP11A", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "P98196", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98196" } ] } ] }, { "uniprot_ac": "Q10588", "gene_name": "BST1", "activity": [ { "ec_number": "3.2.2.6", "activity": "H2O + NAD(+) = ADP-D-ribose + H(+) + nicotinamide.", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] }, { "ec_number": "3.2.2.6", "activity": "", "evidence": [ { "id": "Q10588", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q10588" } ] } ] }, { "uniprot_ac": "Q12913", "gene_name": "PTPRJ", "activity": [ { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "Q12913", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12913" } ] }, { "ec_number": "3.1.3.48", "activity": "", "evidence": [ { "id": "Q12913", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q12913" } ] } ] }, { "uniprot_ac": "Q13153", "gene_name": "PAK1", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13153" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13153", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13153" } ] } ] }, { "uniprot_ac": "Q13177", "gene_name": "PAK2", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q13177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13177" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q13177", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13177" } ] } ] }, { "uniprot_ac": "Q13303", "gene_name": "KCNAB2", "activity": [ { "ec_number": "1.1.1.-", "activity": "", "evidence": [ { "id": "Q13303", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13303" } ] } ] }, { "uniprot_ac": "Q13393", "gene_name": "PLD1", "activity": [ { "ec_number": "3.1.4.4", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn-glycero-3-phosphate + choline + H(+).", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] }, { "ec_number": "3.1.4.4", "activity": "", "evidence": [ { "id": "Q13393", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13393" } ] } ] }, { "uniprot_ac": "Q16512", "gene_name": "PKN1", "activity": [ { "ec_number": "2.7.11.13", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q16512", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16512" } ] }, { "ec_number": "2.7.11.13", "activity": "", "evidence": [ { "id": "Q16512", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16512" } ] } ] }, { "uniprot_ac": "Q16513", "gene_name": "PKN2", "activity": [ { "ec_number": "2.7.11.13", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q16513", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16513" } ] }, { "ec_number": "2.7.11.13", "activity": "", "evidence": [ { "id": "Q16513", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q16513" } ] } ] }, { "uniprot_ac": "Q5T4S7", "gene_name": "UBR4", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4S7" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "Q5T4S7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4S7" } ] } ] }, { "uniprot_ac": "Q5VT25", "gene_name": "CDC42BPA", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q5VT25", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5VT25" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q5VT25", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5VT25" } ] } ] }, { "uniprot_ac": "Q68CP4", "gene_name": "HGSNAT", "activity": [ { "ec_number": "2.3.1.78", "activity": "acetyl-CoA + alpha-D-glucosaminyl-[heparan sulfate](n) = CoA + H(+) + N-acetyl-alpha-D-glucosaminyl-[heparan sulfate](n).", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68CP4" } ] }, { "ec_number": "2.3.1.78", "activity": "", "evidence": [ { "id": "Q68CP4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q68CP4" } ] } ] }, { "uniprot_ac": "Q8TF62", "gene_name": "ATP8B4", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q8TF62", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8TF62" } ] } ] }, { "uniprot_ac": "Q96PH1", "gene_name": "NOX5", "activity": [ { "ec_number": "1.6.3.-", "activity": "", "evidence": [ { "id": "Q96PH1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96PH1" } ] } ] }, { "uniprot_ac": "Q9H2K8", "gene_name": "TAOK3", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q9H2K8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H2K8" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q9H2K8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H2K8" } ] } ] }, { "uniprot_ac": "Q9HBY0", "gene_name": "NOX3", "activity": [ { "ec_number": "1.6.3.-", "activity": "", "evidence": [ { "id": "Q9HBY0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9HBY0" } ] } ] }, { "uniprot_ac": "Q9NPA2", "gene_name": "MMP25", "activity": [ { "ec_number": "3.4.24.-", "activity": "", "evidence": [ { "id": "Q9NPA2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NPA2" } ] } ] }, { "uniprot_ac": "Q9NPH5", "gene_name": "NOX4", "activity": [ { "ec_number": "1.6.3.1", "activity": "H(+) + NADH + O2 = H2O2 + NAD(+).", "evidence": [ { "id": "Q9NPH5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NPH5" } ] }, { "ec_number": "1.6.3.1", "activity": "", "evidence": [ { "id": "Q9NPH5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NPH5" } ] } ] }, { "uniprot_ac": "Q9NQU5", "gene_name": "PAK6", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q9NQU5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQU5" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q9NQU5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NQU5" } ] } ] }, { "uniprot_ac": "Q9P286", "gene_name": "PAK5", "activity": [ { "ec_number": "2.7.11.1", "activity": "ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein].", "evidence": [ { "id": "Q9P286", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P286" } ] }, { "ec_number": "2.7.11.1", "activity": "", "evidence": [ { "id": "Q9P286", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P286" } ] } ] }, { "uniprot_ac": "Q9Y2Q0", "gene_name": "ATP8A1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] } ] }, { "uniprot_ac": "Q9Y3L5", "gene_name": "RAP2C", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "Q9Y3L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y3L5" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "Q9Y3L5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y3L5" } ] } ] }, { "uniprot_ac": "Q9Y5S8", "gene_name": "NOX1", "activity": [ { "ec_number": "1.6.3.-", "activity": "", "evidence": [ { "id": "Q9Y5S8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y5S8" } ] } ] } ], "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": [ 122, 132, 133, 149, 154, 240, 429 ], 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], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }