{ "uniprot_canonical_ac": "P24539-1", "uniprot_ac": "P24539", "uniprot_id": "AT5F1_HUMAN", "mass": { "chemical_mass": 28909.0, "monoisotopic_mass": 28909.0 }, "refseq": { "ac": "NP_001679", "name": "ATP synthase F(0) complex subunit B1, mitochondrial precursor", "summary": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001679" }, "gene_names": [ { "name": "ATP5PB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P24539", "id": "P24539" }, { "name": "ATP5F1; PIG47", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001679", "id": "NP_001679" }, { "name": "ATP5F1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P24539", "id": "P24539" }, { "name": "ATP5PB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001679", "id": "NP_001679" } ], "protein_names": [ { "name": "ATP synthase F(0) complex subunit B1, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P24539" }, { "name": "ATP synthase F(0) complex subunit B1, mitochondrial precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001679", "id": "NP_001679" }, { "name": "ATP synthase peripheral stalk-membrane subunit b", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P24539" }, { "name": "ATP synthase proton-transporting mitochondrial F(0) complex subunit B1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P24539" }, { "name": "ATP synthase subunit b", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P24539" }, { "name": "ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b; ATP synthase B chain, mitochondrial; H+-ATP synthase subunit b; ATP synthase F(0) complex subunit B1, mitochondrial; ATP synthase subunit b, mitochondrial; cell proliferation-inducing protein 47; ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1; ATPase subunit b; ATP synthase proton-transporting mitochondrial F(0) complex subunit B1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001679", "id": "NP_001679" }, { "name": "ATPase subunit b", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P24539" } ], "function": [ { "annotation": "Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements.", "evidence": [ { "database": "UniProtKB", "id": "Q5QNZ2", "url": "https://www.uniprot.org/uniprot/Q5QNZ2#function" }, { "database": "UniProtKB", "id": "RU368017", "url": "https://www.uniprot.org/uniprot/RU368017#function" }, { "database": "UniProtKB", "id": "ARBA00003411", "url": "https://www.uniprot.org/uniprot/ARBA00003411#function" }, { "database": "UniProtKB", "id": "P24539", "url": "https://www.uniprot.org/uniprot/P24539#function" } ] }, { "annotation": "This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001679" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "99.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "97.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "98.91", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "99.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "97.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116459", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116459" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P24539", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P24539" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "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": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", 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"journal": "EMBO reports", "date": "2007", "authors": "Kozjak-Pavlovic V, Ross K, Benlasfer N, Kimmig S, Karlas A, Rudel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949613", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949613" } ], "reference": [ { "type": "PubMed", "id": "17510655", "url": "https://glygen.org/publication/PubMed/17510655" } ] }, { "title": "The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.", "journal": "FEBS letters", "date": "2007", "authors": "Xie J, Marusich MF, Souda P, Whitelegge J, Capaldi RA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949613", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949613" } ], "reference": [ { "type": "PubMed", "id": "17624330", "url": "https://glygen.org/publication/PubMed/17624330" } ] }, { "title": "Molecular cloning of cDNA for the import precursor of human subunit B of H(+)-ATP synthase in mitochondria.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1991", "authors": "Tanaka K., Kawamura Y., Higuti T., Osaka F., Tani I., Tsujita H., Tsurumi C., Yoshihara Y., Ichirara A.", "evidence": [ { "database": "UniProtKB", "id": "P24539", "url": "https://www.uniprot.org/uniprot/P24539" } ], "reference": [ { "type": "PubMed", "id": "1831354", "url": "https://glygen.org/publication/PubMed/1831354" } ] }, { "title": "Dimer ribbons of ATP synthase shape the inner mitochondrial membrane.", "journal": "The EMBO journal", "date": "2008", "authors": "Strauss M, Hofhaus G, Schroder RR, Kuhlbrandt W", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949613", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949613" } ], "reference": [ { "type": "PubMed", "id": "18323778", "url": "https://glygen.org/publication/PubMed/18323778" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5QNZ2", "url": "https://www.uniprot.org/uniprot/Q5QNZ2" }, { "database": "UniProtKB", "id": "P24539", "url": "https://www.uniprot.org/uniprot/P24539" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Structure of dimeric F1F0-ATP synthase.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Couoh-Cardel SJ, Uribe-Carvajal S, Wilkens S, Garcia-Trejo JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949613", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949613" } ], "reference": [ { "type": "PubMed", "id": "20833715", "url": "https://glygen.org/publication/PubMed/20833715" } ] }, { "title": "Macromolecular organization of ATP synthase and complex I in whole mitochondria.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Davies KM, Strauss M, Daum B, Kief JH, Osiewacz HD, Rycovska A, Zickermann V, Kuhlbrandt W", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949613", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949613" } ], "reference": [ { "type": "PubMed", "id": "21836051", "url": "https://glygen.org/publication/PubMed/21836051" } ] }, { "title": "MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization.", "journal": "Molecular biology of the cell", "date": "2012", "authors": "Alkhaja AK, Jans DC, Nikolov M, Vukotic M, Lytovchenko O, Ludewig F, Schliebs W, Riedel D, Urlaub H, Jakobs S, Deckers M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949613", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949613" } ], "reference": [ { "type": "PubMed", "id": "22114354", "url": "https://glygen.org/publication/PubMed/22114354" } ] }, { "title": "Sam50 functions in mitochondrial 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acta", "date": "2015", "authors": "Koob S, Barrera M, Anand R, Reichert AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949613", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949613" } ], "reference": [ { "type": "PubMed", "id": "25764979", "url": "https://glygen.org/publication/PubMed/25764979" } ] }, { "title": "Detailed analysis of the human mitochondrial contact site complex indicate a hierarchy of subunits.", "journal": "PloS one", "date": "2015", "authors": "Ott C, Dorsch E, Fraunholz M, Straub S, Kozjak-Pavlovic V", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949613", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949613" } ], "reference": [ { "type": "PubMed", "id": "25781180", "url": "https://glygen.org/publication/PubMed/25781180" } ] }, { "title": "QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology.", "journal": "eLife", "date": "2015", "authors": "Guarani V, McNeill EM, Paulo JA, Huttlin 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Hoss P, Pfanner N, van der Laan M, Bohnert M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949613", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949613" } ], "reference": [ { "type": "PubMed", "id": "26968360", "url": "https://glygen.org/publication/PubMed/26968360" } ] }, { "title": "Mic13 Is Essential for Formation of Crista Junctions in Mammalian Cells.", "journal": "PloS one", "date": "2016", "authors": "Anand R, Strecker V, Urbach J, Wittig I, Reichert AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8949613", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8949613" } ], "reference": [ { "type": "PubMed", "id": "27479602", "url": "https://glygen.org/publication/PubMed/27479602" } ] }, { "title": "Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit.", "journal": "European journal of human genetics : EJHG", "date": "2016", "authors": "Zeharia A, Friedman JR, Tobar A, Saada A, Konen O, Fellig Y, 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Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "P24539", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P24539" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "O-GlcNAc-induced nuclear translocation of hnRNP-K is associated with progression and metastasis of cholangiocarcinoma.", "journal": "Molecular oncology", "date": "2019", "authors": "Phoomak C, Park D, Silsirivanit A, Sawanyawisuth K, Vaeteewoottacharn K, Detarya M, Wongkham C, Lebrilla CB, Wongkham S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P24539", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P24539" } 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