{ "uniprot_canonical_ac": "A2RU49-1", "uniprot_ac": "A2RU49", "uniprot_id": "HYKK_HUMAN", "mass": { "chemical_mass": 41933.0, "monoisotopic_mass": 41933.0 }, "refseq": { "ac": "NP_001013641", "name": "hydroxylysine kinase isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641" }, "gene_names": [ { "name": "HYKK", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2RU49", "id": "A2RU49" }, { "name": "AGPHD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641", "id": "NP_001013641" }, { "name": "AGPHD1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2RU49", "id": "A2RU49" }, { "name": "HYKK", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641", "id": "NP_001013641" } ], "protein_names": [ { "name": "Hydroxylysine kinase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A2RU49" }, { "name": "2.7.1.81", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A2RU49" }, { "name": "5-hydroxy-L-lysine kinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A2RU49" }, { "name": "Aminoglycoside phosphotransferase domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A2RU49" }, { "name": "aminoglycoside phosphotransferase domain-containing protein 1; 5-hydroxylysine kinase; 5-hydroxy-L-lysine kinase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641", "id": "NP_001013641" }, { "name": "hydroxylysine kinase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641", "id": "NP_001013641" } ], "function": [ { "annotation": "CHRNA3 rs1051730 (G > A) and AGPHD1 rs8034191 (A > G) were more susceptible to lung cancers than noncarriers.", "evidence": [ { "database": "RefSeq", "id": "NP_001013641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641" }, { "database": "PubMed", "id": "27072204", "url": "https://glygen.org/publication/PubMed/27072204" } ] }, { "annotation": "Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine.", "evidence": [ { "database": "UniProtKB", "id": "A2RU49", "url": "https://www.uniprot.org/uniprot/A2RU49#function" }, { "database": "PubMed", "id": "22241472", "url": "https://glygen.org/publication/PubMed/22241472" }, { "database": "UniProtKB", "id": "A0A0C4DGM4", "url": "https://www.uniprot.org/uniprot/A0A0C4DGM4#function" }, { "database": "UniProtKB", "id": "ARBA00037368", "url": "https://www.uniprot.org/uniprot/ARBA00037368#function" } ] }, { "annotation": "The association between AGPHD1 single nucleotide polymorphism rs8034191 and lung cancer risk was significant using multiple genetic models, suggesting that AGPHD1 single nucleotide polymorphism rs8034191 is a risk factor for lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001013641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641" }, { "database": "PubMed", "id": "25854352", "url": "https://glygen.org/publication/PubMed/25854352" } ] }, { "annotation": "The variant rs8034191 in the AGPHD1 gene may not modify the genetic risk of lung cancer in Asian populations.", "evidence": [ { "database": "RefSeq", "id": "NP_001013641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641" }, { "database": "PubMed", "id": "25074529", "url": "https://glygen.org/publication/PubMed/25074529" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "72.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "52.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000188266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "79.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "69.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "71.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000188266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "75.89", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "74.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000188266", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A2RU49", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RU49" } ], "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, 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"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": 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"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": 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"https://www.ensembl.org/id/ENSP00000456614.1" } ] } }, { "isoform_ac": "A2RU49-3", "url": "", "sequence": { "sequence": "MSSGNYQQSEALSKPTFSEEQASALVESVFGLKVSKVRPLPSYDDQNFHVYVSKTKDGPTEYVLKISNTKASKNPDLIEVQNHIIMFLKAAGFPTASVCHTKGDNTASLVSVDSGSEIKSYLVRLLTYLPGRPIAELPVSPQLLYEIGKLAAKLDKTLQRFHHPKLSSLHRENFIWNLKNVPLLEKYLYALGQNRNREIVEHVIHLFKEEVMTKLSHFRE", "length": 220, "header": "sp|A2RU49-3|HYKK_HUMAN Isoform 3 of Hydroxylysine kinase OS=Homo sapiens OX=9606 GN=HYKK PE=1 SV=2 CANONICAL=A2RU49-1" }, "locus": { "chromosome": "15", "start_pos": 78527563, "end_pos": 78513089, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000408962.6", "url": "https://www.ensembl.org/id/ENST00000408962.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000386197.2", "url": "https://www.ensembl.org/id/ENSP00000386197.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "L-Pipecolic acid oxidase, a human enzyme essential for the degradation of L-pipecolic acid, is most similar to the monomeric sarcosine oxidases.", "journal": "The Biochemical journal", "date": "2000", "authors": "Dodt G, Kim DG, Reimann SA, Reuber BE, McCabe K, Gould SJ, Mihalik SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "10642506", "url": "https://glygen.org/publication/PubMed/10642506" } ] }, { "title": "Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia.", "journal": "American journal of human genetics", "date": "2000", "authors": "Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "10775527", "url": "https://glygen.org/publication/PubMed/10775527" } ] }, { "title": "Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Fiermonte G, Dolce V, Palmieri L, Ventura M, Runswick MJ, Palmieri F, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "11083877", "url": "https://glygen.org/publication/PubMed/11083877" } ] }, { "title": "The remarkable structural and functional organization of the eukaryotic pyruvate dehydrogenase complexes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "Zhou ZH, McCarthy DB, O'Connor CM, Reed LJ, Stoops JK", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "11752427", "url": "https://glygen.org/publication/PubMed/11752427" } ] }, { "title": "Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).", "journal": "Molecular genetics and metabolism", "date": "2002", "authors": "Goh DL, Patel A, Thomas GH, Salomons GS, Schor DS, Jakobs C, Geraghty MT", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "12126930", "url": "https://glygen.org/publication/PubMed/12126930" } ] }, { "title": "Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions.", "journal": "Biochemistry", "date": "2004", "authors": "Fu Z, Wang M, Paschke R, Rao KS, Frerman FE, Kim JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "15274622", "url": "https://glygen.org/publication/PubMed/15274622" } ] }, { "title": "Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Brautigam CA, Chuang JL, Tomchick DR, Machius M, Chuang DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "15946682", "url": "https://glygen.org/publication/PubMed/15946682" } ] }, { "title": "Mutations in antiquitin in individuals with pyridoxine-dependent seizures.", "journal": "Nature medicine", "date": "2006", "authors": "Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": 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"https://glygen.org/publication/PubMed/18056995" } ] }, { "title": "Crystal structure of human kynurenine aminotransferase II, a drug target for the treatment of schizophrenia.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Rossi F, Garavaglia S, Montalbano V, Walsh MA, Rizzi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "18056996", "url": "https://glygen.org/publication/PubMed/18056996" } ] }, { "title": "Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).", "journal": "Human molecular genetics", "date": "2008", "authors": "Keyser B, Muhlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { 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kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Veiga-da-Cunha M, Hadi F, Balligand T, Stroobant V, Van Schaftingen E", "evidence": [ { "database": "UniProtKB", "id": "A2RU49", "url": "https://www.uniprot.org/uniprot/A2RU49" }, { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "22241472", "url": "https://glygen.org/publication/PubMed/22241472" } ] }, { "title": "Lysine metabolism in mammalian brain: an update on the importance of recent discoveries.", "journal": "Amino acids", "date": "2013", "authors": "Hallen A, Jamie JF, Cooper AJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "24043460", "url": "https://glygen.org/publication/PubMed/24043460" } ] }, { "title": "Genetic association between AGPHD1 variant and lung cancer risk.", "journal": "Cell biochemistry and biophysics", "date": "2014", "authors": "Wang H, Liu ZD", "evidence": [ { "database": "RefSeq", "id": "NP_001013641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641" } ], "reference": [ { "type": "PubMed", "id": "25074529", "url": "https://glygen.org/publication/PubMed/25074529" } ] }, { "title": "Meta-analysis of the association between the rs8034191 polymorphism in AGPHD1 and lung cancer risk.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "date": "2015", "authors": "Zhang L, Jin TB, Gao Y, Wang HJ, Yang H, Feng T, Chen C, Kang LL, Chen C", "evidence": [ { "database": "RefSeq", "id": "NP_001013641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641" } ], "reference": [ { "type": "PubMed", "id": "25854352", "url": "https://glygen.org/publication/PubMed/25854352" } ] }, { "title": "Insights into Enzyme Catalysis and Thyroid Hormone Regulation of Cerebral Ketimine Reductase/mu-Crystallin Under Physiological Conditions.", "journal": "Neurochemical research", "date": "2015", "authors": "Hallen A, Cooper AJ, Jamie JF, Karuso P", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "25931162", "url": "https://glygen.org/publication/PubMed/25931162" } ] }, { "title": "Different effects of the three polymorphisms on 15q25.1 onlung cancer risk: Evidence from published literatures.", "journal": "Journal of cancer research and therapeutics", "date": "2016", "authors": "Sun H, Pan Y, He B, Deng Q, Ying H, Chen J, Liu X, Wang S", "evidence": [ { "database": "RefSeq", "id": "NP_001013641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641" } ], "reference": [ { "type": "PubMed", "id": "27072204", "url": "https://glygen.org/publication/PubMed/27072204" } ] }, { "title": "Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Markovitz PJ, Chuang DT, Cox RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "6434529", "url": "https://glygen.org/publication/PubMed/6434529" } ] }, { "title": "Subunit interactions in the mammalian alpha-ketoglutarate dehydrogenase complex. Evidence for direct association of the alpha-ketoglutarate dehydrogenase and dihydrolipoamide dehydrogenase components.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "McCartney RG, Rice JE, Sanderson SJ, Bunik V, Lindsay H, Lindsay JG", "evidence": [ { "database": "Reactome", "id": "R-HSA-71064", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064" } ], "reference": [ { "type": "PubMed", "id": "9727038", "url": "https://glygen.org/publication/PubMed/9727038" } ] } ], "pathway": [ { "id": "hsa:123688", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:123688", "resource": "KEGG Pathway" }, { "id": "R-HSA-71064", "name": "Lysine catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064", "resource": "Reactome", "description": "Lysine catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZUX1-1", "protein_name": "Hydroxylysine kinase", "gene_name": "Hykk", "tax_id": 10116, "organism": "Rattus 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