{ "uniprot_canonical_ac": "O95169-1", "uniprot_ac": "O95169", "uniprot_id": "NDUB8_HUMAN", "mass": { "chemical_mass": 21766.0, "monoisotopic_mass": 21766.0 }, "refseq": { "ac": "NP_001271296", "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271296" }, "gene_names": [ { "name": "NDUFB8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95169", "id": "O95169" }, { "name": "ASHI; CI-ASHI; MC1DN32", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271296", "id": "NP_001271296" }, { "name": "NDUFB8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271296", "id": "NP_001271296" } ], "protein_names": [ { "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95169" }, { "name": "CI-ASHI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95169" }, { "name": "Complex I-ASHI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95169" }, { "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271296", "id": "NP_001271296" }, { "name": "NADH-ubiquinone oxidoreductase ASHI subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95169" }, { "name": "complex I ASHI subunit; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial; NADH:ubiquinone oxidoreductase ASHI subunit; complex I-ASHI; NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271296", "id": "NP_001271296" } ], "function": [ { "annotation": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.", "evidence": [ { "database": "UniProtKB", "id": "O95169", "url": "https://www.uniprot.org/uniprot/O95169#function" }, { "database": "PubMed", "id": "27626371", "url": "https://glygen.org/publication/PubMed/27626371" }, { "database": "UniProtKB", "id": "E9PQ68", "url": "https://www.uniprot.org/uniprot/E9PQ68#function" }, { "database": "UniProtKB", "id": "ARBA00003195", "url": "https://www.uniprot.org/uniprot/ARBA00003195#function" } ] }, { "annotation": "NDUFB8 is a relevant gene in childhood-onset mitochondrial disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001271296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271296" }, { "database": "PubMed", "id": "29429571", "url": "https://glygen.org/publication/PubMed/29429571" } ] }, { "annotation": "We observed loss of NDUFB8 immunoreactivity in all patients with mutations affecting nuclear-encoding structural subunits and assembly factors, whilst only 3 of the 10 patients with mutations affecting mtDNA-encoded structural subunits showed loss of NDUFB8, confirmed by BN-PAGE analysis of CI assembly and IHC using an alternative, commercially-available CI (NDUFS3) antibody. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001271296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271296" }, { "database": "PubMed", "id": "29142257", "url": "https://glygen.org/publication/PubMed/29142257" } ] } ], "disease": [ { "disease_id": "DOID:0112080", "recommended_name": { "id": "DOID:0112080", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112080", "name": "nuclear type mitochondrial complex I deficiency 32", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31." }, "synonyms": [ { "id": "DOID:0112080", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112080", "name": "MC1DN32", "description": "" }, { "id": "MONDO:0032635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032635", "name": "mitochondrial complex 1 deficiency, nuclear type 32", "description": "" }, { "id": "MONDO:0032635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032635", "name": "MC1DN32", "description": "" }, { "id": "MONDO:0032635", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0032635", "name": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32", "description": "" }, { "id": "MIM:618252", "resource": "MIM", "url": "https://www.omim.org/entry/618252", "name": "Mitochondrial complex I deficiency, nuclear type 32", "description": "Mitochondrial complex I deficiency, nuclear type 32" } ], "evidence": [ { "id": "618252", "database": "MIM", "url": "https://www.omim.org/entry/618252" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "98.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "98.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "98.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "97.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.14", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "98.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.51", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "93.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "98.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000255339", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000255339" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O95169", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O95169" } ], "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", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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Computationally mapped isoform of NADH:ubiquinone oxidoreductase subunit B8 OS=Homo sapiens OX=9606 GN=NDUFB8 PE=1 SV=1 CANONICAL=O95169-1" }, "locus": { "chromosome": "10", "start_pos": 100529851, "end_pos": 100529379, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528174.5", "url": "https://www.ensembl.org/id/ENST00000528174.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456355.1", "url": "https://www.ensembl.org/id/ENSP00000456355.1" } ] } }, { "isoform_ac": "E9PQ68-1", "url": "", "sequence": { "sequence": "MAVARAGVLGVQWLQRASRNVMPLGARTASHMTKDMFPGPYPRTPEERAAAAKKYNMRVEDYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWGEPMHWHLDMYNRNRVDTSPTPVSWHVMCMQLFGFLAFMIFMCWVGDVYPVYQPVDRP", "length": 159, "header": "tr|E9PQ68-1|E9PQ68_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial OS=Homo sapiens OX=9606 GN= PE=1 SV=1 CANONICAL=O95169-1" }, "locus": { "chromosome": "10", "start_pos": 100529851, "end_pos": 100516952, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000529568.5", "url": "https://www.ensembl.org/id/ENST00000529568.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455597.1", "url": "https://www.ensembl.org/id/ENSP00000455597.1" } ] } }, { "isoform_ac": "K9J7I2-1", "url": "", "sequence": { "sequence": "MAVARAGVLGVQWLQRASRNVMPLGARTASHMTKDMFPGPYPRTPEERAAAAKKYNMRVEDYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWGEPDRP", "length": 107, "header": "tr|K9J7I2-1|NDUB8_HUMAN Computationally mapped isoform of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFB8 PE=1 SV=1 CANONICAL=O95169-1" }, "locus": { "chromosome": "10", "start_pos": 100529851, "end_pos": 100516952, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527595.5", "url": "https://www.ensembl.org/id/ENST00000527595.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455090.1", "url": "https://www.ensembl.org/id/ENSP00000455090.1" } ] } }, { "isoform_ac": "O95169-1", "url": "", "sequence": { "sequence": "MAVARAGVLGVQWLQRASRNVMPLGARTASHMTKDMFPGPYPRTPEERAAAAKKYNMRVEDYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWGEPMHWHLDMYNRNRVDTSPTPVSWHVMCMQLFGFLAFMIFMCWVGDVYPVYQPVGPKQYPYNNLYLERGGDPSKEPERVVHYEI", "length": 186, "header": "sp|O95169-1|NDUB8_HUMAN Isoform 1 of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFB8 PE=1 SV=1 CANONICAL=O95169-1" }, "locus": { "chromosome": "10", "start_pos": 100529851, "end_pos": 100523840, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299166.9", "url": "https://www.ensembl.org/id/ENST00000299166.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000299166.4", "url": "https://www.ensembl.org/id/ENSP00000299166.4" } ] } }, { "isoform_ac": "O95169-2", "url": "", "sequence": { "sequence": "MAVARAGVLGVQWLQRASRNVMPLGARTASHMTKDMFPGPYPRTPEERAAAAKKYNMRVEDYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWGEPMHWHLDMYNRNRVDTSPTPVSWHVMCMQLFGFLAFMIFMCWVGDVYPVYQPVCRHHFSYNLGFLSALG", "length": 172, "header": "sp|O95169-2|NDUB8_HUMAN Isoform 2 of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFB8 PE=1 SV=1 CANONICAL=O95169-1" }, "locus": { "chromosome": "10", "start_pos": 100529851, "end_pos": 100524092, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370320.4", "url": "https://www.ensembl.org/id/ENST00000370320.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000359344.4", "url": "https://www.ensembl.org/id/ENSP00000359344.4" } ] } }, { "isoform_ac": "O95169-3", "url": "", "sequence": { "sequence": "MTKDMFPGPYPRTPEERAAAAKKYNMRVEDYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWGEPMHWHLDMYNRNRVDTSPTPVSWHVMCMQLFGFLAFMIFMCWVGDVYPVYQPVGPKQYPYNNLYLERGGDPSKEPERVVHYEI", "length": 155, "header": "sp|O95169-3|NDUB8_HUMAN Isoform 3 of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial OS=Homo sapiens OX=9606 GN=NDUFB8 PE=1 SV=1 CANONICAL=O95169-1" }, "locus": { "chromosome": "10", "start_pos": 100529498, "end_pos": 100523840, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370322.5", "url": "https://www.ensembl.org/id/ENST00000370322.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000359346.1", "url": "https://www.ensembl.org/id/ENSP00000359346.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 28, "start_aa": "Thr", "end_pos": 28, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr28", "evidence": [ { "id": "O95169", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O95169" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "O95169", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O95169" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Defects in mitochondrial beta-oxidation of fatty acids.", "journal": "Current opinion in lipidology", "date": "1999", "authors": "Wood PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "10327278", "url": "https://glygen.org/publication/PubMed/10327278" } ] }, { "title": "Identification of 167 polymorphisms in 88 genes from candidate neurodegeneration pathways.", "journal": "Gene", "date": "1999", "authors": "Emahazion T, Jobs M, Howell W M, Siegfried M, Wy\u00f6ni P I, Prince J A, Brookes A J", "evidence": [ { "database": "UniProtKB", "id": "O95169", "url": "https://www.uniprot.org/uniprot/O95169" } ], "reference": [ { "type": "PubMed", "id": "10570959", "url": "https://glygen.org/publication/PubMed/10570959" } ] }, { "title": "Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.", "journal": "Annals of neurology", "date": "2001", "authors": "Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-6799198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198" } ], "reference": [ { "type": "PubMed", "id": "11220739", "url": "https://glygen.org/publication/PubMed/11220739" } ] }, { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "O95169", "url": "https://www.uniprot.org/uniprot/O95169" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Human NADH:ubiquinone oxidoreductase.", "journal": "Journal of bioenergetics and biomembranes", "date": "2001", "authors": "Smeitink J, Sengers R, Trijbels F, van den Heuvel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "11695836", "url": "https://glygen.org/publication/PubMed/11695836" } ] }, { "title": "The energy-transducing NADH: quinone oxidoreductase, complex I.", "journal": "Molecular aspects of medicine", "date": "2002", "authors": "Yano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12231006", "url": "https://glygen.org/publication/PubMed/12231006" } ] }, { "title": "The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.", "journal": "J. Biol. Chem.", "date": "2003", "authors": "Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF, Ghosh SS, Capaldi RA", "evidence": [ { "database": "UniProtKB", "id": "O95169", "url": "https://www.uniprot.org/uniprot/O95169" } ], "reference": [ { "type": "PubMed", "id": "12611891", "url": "https://glygen.org/publication/PubMed/12611891" } ] }, { "title": "The nuclear encoded subunits of complex I from bovine heart mitochondria.", "journal": "Biochimica et biophysica acta", "date": "2003", "authors": "Hirst J, Carroll J, Fearnley IM, Shannon RJ, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12837546", "url": "https://glygen.org/publication/PubMed/12837546" } ] }, { "title": "Saturation kinetics of coenzyme Q in NADH and succinate oxidation in beef heart mitochondria.", "journal": "FEBS letters", "date": "1992", "authors": "Estornell E, Fato R, Castelluccio C, Cavazzoni M, Parenti Castelli G, Lenaz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "1327877", "url": "https://glygen.org/publication/PubMed/1327877" } ] }, { "title": "Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondria.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Muhlenbein N, Hofmann S, Rothbauer U, Bauer MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "14726512", "url": "https://glygen.org/publication/PubMed/14726512" } ] }, { "title": "The gross structure of the respiratory complex I: a Lego System.", "journal": "Biochimica et biophysica acta", "date": "2004", "authors": "Friedrich T, Bottcher B", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "14741580", "url": "https://glygen.org/publication/PubMed/14741580" } ] }, { "title": "Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin.", "journal": "The Biochemical journal", "date": "2004", "authors": "Bourges I, Ramus C, Mousson de Camaret B, Beugnot R, Remacle C, Cardol P, Hofhaus G, Issartel JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "15250827", "url": "https://glygen.org/publication/PubMed/15250827" } ] }, { "title": "The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.", "journal": "Human molecular genetics", "date": "2004", "authors": "Roesch K, Hynds PJ, Varga R, Tranebjaerg L, Koehler CM", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15254020", "url": "https://glygen.org/publication/PubMed/15254020" } ] }, { "title": "Dissection of the mitochondrial import and assembly pathway for human Tom40.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Humphries AD, Streimann IC, Stojanovski D, Johnston AJ, Yano M, Hoogenraad NJ, Ryan MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15644312", "url": "https://glygen.org/publication/PubMed/15644312" } ] }, { "title": "Augmenter of liver regeneration: a flavin-dependent sulfhydryl oxidase with cytochrome c reductase activity.", "journal": "Biochemistry", "date": "2005", "authors": "Farrell SR, Thorpe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "15683237", "url": "https://glygen.org/publication/PubMed/15683237" } ] }, { "title": "Functional and mutational characterization of human MIA40 acting during import into the mitochondrial intermembrane space.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Hofmann S, Rothbauer U, Muhlenbein N, Baiker K, Hell K, Bauer MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "16185709", "url": "https://glygen.org/publication/PubMed/16185709" } ] }, { "title": "The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Barros MH, Johnson A, Gin P, Marbois BN, Clarke CF, Tzagoloff A", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "16230336", "url": "https://glygen.org/publication/PubMed/16230336" } ] }, { "title": "Degradation of the amyloid beta-protein by the novel mitochondrial peptidasome, PreP.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Falkevall A, Alikhani N, Bhushan S, Pavlov PF, Busch K, Johnson KA, Eneqvist T, Tjernberg L, Ankarcrona M, Glaser E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "16849325", "url": "https://glygen.org/publication/PubMed/16849325" } ] }, { "title": "Conserved roles of Sam50 and metaxins in VDAC biogenesis.", "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-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "17510655", "url": "https://glygen.org/publication/PubMed/17510655" } ] }, { "title": "Multiple pathways for sorting mitochondrial precursor proteins.", "journal": "EMBO reports", "date": "2008", "authors": "Bolender N, Sickmann A, Wagner R, Meisinger C, Pfanner N", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "18174896", "url": "https://glygen.org/publication/PubMed/18174896" } ] }, { "title": "Possible molecular mechanisms of the protonmotive function of cytochrome systems.", "journal": "Journal of theoretical biology", "date": "1976", "authors": "Mitchell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "186667", "url": "https://glygen.org/publication/PubMed/186667" } ] }, { "title": "Step-size analyses of the mitochondrial Hsp70 import motor reveal the Brownian ratchet in operation.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Yamano K, Kuroyanagi-Hasegawa M, Esaki M, Yokota M, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "18678864", "url": "https://glygen.org/publication/PubMed/18678864" } ] }, { "title": "The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.", "journal": "American journal of human genetics", "date": "2009", "authors": "Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "19409522", "url": "https://glygen.org/publication/PubMed/19409522" } ] }, { "title": "Multiple pathways for mitochondrial protein traffic.", "journal": "Biological chemistry", "date": "2009", "authors": "Endo T, Yamano K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "19453276", "url": "https://glygen.org/publication/PubMed/19453276" } ] }, { "title": "Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Sheftel AD, Stehling O, Pierik AJ, Netz DJ, Kerscher S, Elsasser HP, Wittig I, Balk J, Brandt U, Lill R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6799198", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6799198" } ], "reference": [ { "type": "PubMed", "id": "19752196", "url": "https://glygen.org/publication/PubMed/19752196" } ] }, { "title": "Roles of Tom70 in import of presequence-containing mitochondrial proteins.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Yamamoto H, Fukui K, Takahashi H, Kitamura S, Shiota T, Terao K, Uchida M, Esaki M, Nishikawa S, Yoshihisa T, Yamano K, Endo T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "19767391", "url": "https://glygen.org/publication/PubMed/19767391" } ] }, { "title": "Genetic and biochemical studies of SNPs of the mitochondrial A beta-degrading protease, hPreP.", "journal": "Neuroscience 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"o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 53 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }