{ "uniprot_canonical_ac": "A2RU49-1", "ptm_annotation": [], "sequence": { "header": "sp|A2RU49-1|HYKK_HUMAN Isoform 1 of Hydroxylysine kinase OS=Homo sapiens OX=9606 GN=HYKK PE=1 SV=2 CANONICAL=A2RU49-1", "length": 373, "sequence": "MSSGNYQQSEALSKPTFSEEQASALVESVFGLKVSKVRPLPSYDDQNFHVYVSKTKDGPTEYVLKISNTKASKNPDLIEVQNHIIMFLKAAGFPTASVCHTKGDNTASLVSVDSGSEIKSYLVRLLTYLPGRPIAELPVSPQLLYEIGKLAAKLDKTLQRFHHPKLSSLHRENFIWNLKNVPLLEKYLYALGQNRNREIVEHVIHLFKEEVMTKLSHFRECINHGDLNDHNILIESSKSASGNAEYQVSGILDFGDMSYGYYVFEVAITIMYMMIESKSPIQVGGHVLAGFESITPLTAVEKGALFLLVCSRFCQSLVMAAYSCQLYPENKDYLMVTAKTGWKHLQQMFDMGQKAVEEIWFETAKSYESGISM" }, "uniprot_id": "HYKK_HUMAN", "enzyme_annotation": [ { "ec": "2.7.1.81", "activity": "" }, { "ec": "2.7.1.81", "activity": "GTP + 5-hydroxy-L-lysine = GDP + 5-phosphonooxy-L-lysine." } ], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU49", "id": "A2RU49", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16341674", "type": [ "PubMed" ], "id": "16341674" } ], "title": "Transcriptome analysis of human gastric cancer.", "journal": "Mammalian genome : official journal of the International Mammalian Genome Society", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "id": "NP_001013641.2", "database": "RefSeq" } ], "authors": "Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS", "date": "2005" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18385676", "type": [ "PubMed" ], "id": "18385676" } ], "title": "Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.", "journal": "Nature genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "id": "NP_001013641.2", "database": "RefSeq" } ], "authors": "Amos CI, Wu X, Broderick P, Gorlov IP, Gu J, Eisen T, Dong Q, Zhang Q, Gu X, Vijayakrishnan J, Sullivan K, Matakidou A, Wang Y, Mills G, Doheny K, Tsai YY, Chen WV, Shete S, Spitz MR, Houlston RS", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19300482", "type": [ "PubMed" ], "id": "19300482" } ], "title": "A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.", "journal": "PLoS genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "id": "NP_001013641.2", "database": "RefSeq" } ], "authors": "Pillai SG, Ge D, Zhu G, Kong X, Shianna KV, Need AC, Feng S, Hersh CP, Bakke P, Gulsvik A, Ruppert A, Lodrup Carlsen KC, Roses A, Anderson W, Rennard SI, Lomas DA, Silverman EK, Goldstein DB", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22241472", "type": [ "PubMed" ], "id": "22241472" } ], "title": "Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine.", "journal": "J. Biol. Chem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU49", "id": "A2RU49", "database": "UniProtKB" } ], "authors": "Veiga-da-Cunha M., Balligand T., Hadi F., Stroobant V., Van Schaftingen E.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22837378", "type": [ "PubMed" ], "id": "22837378" } ], "title": "Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.", "journal": "American journal of respiratory and critical care medicine", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "id": "NP_001013641.2", "database": "RefSeq" } ], "authors": "Wilk JB, Shrine NR, Loehr LR, Zhao JH, Manichaikul A, Lopez LM, Smith AV, Heckbert SR, Smolonska J, Tang W, Loth DW, Curjuric I, Hui J, Cho MH, Latourelle JC, Henry AP, Aldrich M, Bakke P, Beaty TH, Bentley AR, Borecki IB, Brusselle GG, Burkart KM, Chen TH, Couper D, Crapo JD, Davies G, Dupuis J, Franceschini N, Gulsvik A, Hancock DB, Harris TB, Hofman A, Imboden M, James AL, Khaw KT, Lahousse L, Launer LJ, Litonjua A, Liu Y, Lohman KK, Lomas DA, Lumley T, Marciante KD, McArdle WL, Meibohm B, Morrison AC, Musk AW, Myers RH, North KE, Postma DS, Psaty BM, Rich SS, Rivadeneira F, Rochat T, Rotter JI, Soler Artigas M, Starr JM, Uitterlinden AG, Wareham NJ, Wijmenga C, Zanen P, Province MA, Silverman EK, Deary IJ, Palmer LJ, Cassano PA, Gudnason V, Barr RG, Loos RJ, Strachan DP, London SJ, Boezen HM, Probst-Hensch N, Gharib SA, Hall IP, O'Connor GT, Tobin MD, Stricker BH", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25006744", "type": [ "PubMed" ], "id": "25006744" } ], "title": "Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.", "journal": "American journal of respiratory and critical care medicine", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "id": "NP_001013641.2", "database": "RefSeq" } ], "authors": "Castaldi PJ, Cho MH, San Jose Estepar R, McDonald ML, Laird N, Beaty TH, Washko G, Crapo JD, Silverman EK", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25074529", "type": [ "PubMed" ], "id": "25074529" } ], "title": "Genetic association between AGPHD1 variant and lung cancer risk.", "journal": "Cell biochemistry and biophysics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "id": "NP_001013641.2", "database": "RefSeq" } ], "authors": "Wang H, Liu ZD", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25854352", "type": [ "PubMed" ], "id": "25854352" } ], "title": "Meta-analysis of the association between the rs8034191 polymorphism in AGPHD1 and lung cancer risk.", "journal": "Asian Pacific journal of cancer prevention : APJCP", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "id": "NP_001013641.2", "database": "RefSeq" } ], "authors": "Zhang L, Jin TB, Gao Y, Wang HJ, Yang H, Feng T, Chen C, Kang LL, Chen C", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27072204", "type": [ "PubMed" ], "id": "27072204" } ], "title": "Different effects of the three polymorphisms on 15q25.1 onlung cancer risk: Evidence from published literatures.", "journal": "Journal of cancer research and therapeutics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "id": "NP_001013641.2", "database": "RefSeq" } ], "authors": "Sun H, Pan Y, He B, Deng Q, Ying H, Chen J, Liu X, Wang S", "date": "2016" } ], "uniprot_ac": "A2RU49", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RU49#A0A0C4DGM4-1", "isoform_ac": "A0A0C4DGM4-1", "locus": { "end_pos": 78513089, "strand": "-", "start_pos": 78527580, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000566332", "id": "ENST00000566332", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000457154", "id": "ENSP00000457154", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0C4DGM4-1|HYKK_HUMAN Computationally mapped isoform of Hydroxylysine kinase OS=Homo sapiens OX=9606 GN=HYKK PE=1 SV=1 CANONICAL=A2RU49-1", "length": 226, "sequence": "MSSGNYQQSEALSKPTFSEEQASALVESVFGLKVSKVRPLPSYDDQNFHVYVSKTKDGPTEYVLKISNTKASKNPDLIEVQNHIIMFLKAAGFPTASVCHTKGDNTASLVSVDSGSEIKSYLVRLLTYLPGRPIAELPVSPQLLYEIGKLAAKLDKTLQRFHHPKLSSLHRENFIWNLKNVPLLEKYLYALGQNRNREIVEHVIHLFKEEVMTKLSHFRECEYSPN" } }, { "url": "https://www.uniprot.org/uniprot/A2RU49#A2RU49-1", "isoform_ac": "A2RU49-1", "locus": { "end_pos": 78513089, "strand": "-", "start_pos": 78533667, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000388988", "id": "ENST00000388988", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000373640", "id": "ENSP00000373640", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RU49-1|HYKK_HUMAN Isoform 1 of Hydroxylysine kinase OS=Homo sapiens OX=9606 GN=HYKK PE=1 SV=2 CANONICAL=A2RU49-1", "length": 373, "sequence": "MSSGNYQQSEALSKPTFSEEQASALVESVFGLKVSKVRPLPSYDDQNFHVYVSKTKDGPTEYVLKISNTKASKNPDLIEVQNHIIMFLKAAGFPTASVCHTKGDNTASLVSVDSGSEIKSYLVRLLTYLPGRPIAELPVSPQLLYEIGKLAAKLDKTLQRFHHPKLSSLHRENFIWNLKNVPLLEKYLYALGQNRNREIVEHVIHLFKEEVMTKLSHFRECINHGDLNDHNILIESSKSASGNAEYQVSGILDFGDMSYGYYVFEVAITIMYMMIESKSPIQVGGHVLAGFESITPLTAVEKGALFLLVCSRFCQSLVMAAYSCQLYPENKDYLMVTAKTGWKHLQQMFDMGQKAVEEIWFETAKSYESGISM" } }, { "url": "https://www.uniprot.org/uniprot/A2RU49#A2RU49-2", "isoform_ac": "A2RU49-2", "locus": { "end_pos": 78513089, "strand": "-", "start_pos": 78518626, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000566289", "id": "ENST00000566289", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000456614", "id": "ENSP00000456614", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RU49-2|HYKK_HUMAN Isoform 2 of Hydroxylysine kinase OS=Homo sapiens OX=9606 GN=HYKK PE=1 SV=2 CANONICAL=A2RU49-1", "length": 172, "sequence": "MSSGNYQQSEALSKPTFSEEQASALVESVFGLKVSKVRPLPSYDDQNFHVYVSKTKDGPTEYVLKISNTKASKNPDLIEVQNHIIMFLKAAGFPTASVCHTKGDNTASLVSVDSGSEIKSYLVRLLTYLPGRPIAELPVSPQLLYEIGKLAAKLDKTLQEGKPRVTPLLAKN" } }, { "url": "https://www.uniprot.org/uniprot/A2RU49#A2RU49-3", "isoform_ac": "A2RU49-3", "locus": { "end_pos": 78513089, "strand": "-", "start_pos": 78527563, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000408962", "id": "ENST00000408962", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000386197", "id": "ENSP00000386197", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 220, "sequence": "MSSGNYQQSEALSKPTFSEEQASALVESVFGLKVSKVRPLPSYDDQNFHVYVSKTKDGPTEYVLKISNTKASKNPDLIEVQNHIIMFLKAAGFPTASVCHTKGDNTASLVSVDSGSEIKSYLVRLLTYLPGRPIAELPVSPQLLYEIGKLAAKLDKTLQRFHHPKLSSLHRENFIWNLKNVPLLEKYLYALGQNRNREIVEHVIHLFKEEVMTKLSHFRE" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:123688", "resource": "KEGG Pathway", "id": "hsa:123688", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71064", "resource": "Reactome", "id": "R-HSA-71064", "name": "Lysine catabolism" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "annotation": "CHRNA3 rs1051730 (G > A) and AGPHD1 rs8034191 (A > G) were more susceptible to lung cancers than noncarriers.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "id": "NP_001013641.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2RU49#function", "annotation": "Catalyzes the GTP-dependent phosphorylation of 5-hydroxy-L-lysine.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU49#function", "id": "A2RU49", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "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": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "id": "NP_001013641.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "annotation": "The variant rs8034191 in the AGPHD1 gene may not modify the genetic risk of lung cancer in Asian populations.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "id": "NP_001013641.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZUX1-1", "protein_name": "Hydroxylysine kinase", "sequence": { "length": 376, "sequence": "MSSGDDQQSQAFTKPTFTEAQASALVESIFGFKVSKIQPLPSYDDQNFHVHISRSQETTDDPVEYVLKISNTKSSQTPDLIEMQNHIIMFLRAAGFPTASVCRTKGDNTISLMSIDSGSEIKSYLVRMLTYLPGRPIAEVATSHQQLYEIGRLAARLDKALEDFHHPKLNLLHRENFIWNLKNVPLLENYMGALSQSRNREIVEQVIQLFKEEVMTKLSHFRECINHGDLNDHNILVDLSKSASGDAVYQVSGILDFGDMSYGYYVFEVAITIMYMMIESTSPIQVGGHVLAGFESVIPLTAVERDALFLLVCARFSQSLVMATYSCQLYPENKEYLMITAKTGWKHLQQMFDMGKKAVEEIWFETAKSYEAGISM" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RU49/", "id": "A2RU49", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/16057", "id": "16057", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q5U5V2-1", "protein_name": "Hydroxylysine kinase", "sequence": { "length": 376, "sequence": "MSSGAGWQSQASAKPVFTEAQASALVESVFGFKVSKIQPLPSYEDQNFRVHIARGKETTDDPVEYVLKISNTESSQTPELIEMQNHVIMFLRAAGFPTASVCRTKGDNTISLISIDSGSGVKSYLVRMLTYLPGRPIAEVAISHQQLYEIGRLAAQLDKALEEFHHPKLSLFHRENFIWNLKNVPLLEKYMGALSQSRNREIVEQVIRMFKEEVMTKLSHFRECINHGDLNDHNILVDLSKSASGEGVHQVSGILDFGDMSYGYYVFEVAIVIMYMMIESTNPIQVGGHILAGFESVIPLTAVERQALFLLVCSRFSQSLVMAAYSCQLYPENKEYLMITAKTGWKHLQQLFDMGQKAVEEIWFETAKSYESEISM" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RU49/", "id": "A2RU49", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/16057", "id": "16057", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "G", "start_pos": 115, "alt_nt": "T", "chr_id": "15", "ref_nt": "G", "chr_pos": "78807316", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU49", "id": "A2RU49", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 115, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "P", "start_pos": 138, "alt_nt": "T", "chr_id": "15", "ref_nt": "C", "chr_pos": "78807384", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU49", "id": "A2RU49", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "S", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%). In dbSNP: rs1431042184.", "end_pos": 138, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "K", "start_pos": 278, "alt_nt": "G", "chr_id": "15", "ref_nt": "A", "chr_pos": "78825722", "disease": [ { "synonyms": [ { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU49", "id": "A2RU49", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "E", "subjects_tested": "191", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "end_pos": 278, "minor_allelic_frequency": "", "subjects_positive": "2" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013641.2", "ac": "NP_001013641.2", "name": "hydroxylysine kinase isoform 1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU49", "id": "A2RU49", "database": "UniProtKB" } ], "name": "kinase activity", "id": "GO:0016301" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047992", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU49", "id": "A2RU49", "database": "UniProtKB" } ], "name": "hydroxylysine kinase activity", "id": "GO:0047992" } ], "total": 2, "name": "Molecular 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"ENSG00000188266", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266", "id": "ENSG00000188266", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266", "id": "ENSG00000188266", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266", "id": "ENSG00000188266", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266", "id": "ENSG00000188266", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266", "id": "ENSG00000188266", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266", "id": "ENSG00000188266", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188266", "id": "ENSG00000188266", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2RU49", "name": "HYKK", "locus": { "end_pos": 78537372, "strand": "+", "start_pos": 78507564, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000188266", "id": "ENSG00000188266", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2RU49", "type": "synonym", "resource": "UniProtKB", "name": "2.7.1.81" }, { "url": "https://www.uniprot.org/uniprot/A2RU49", "type": "synonym", "resource": "UniProtKB", "name": "5-hydroxy-L-lysine kinase" }, { "url": "https://www.uniprot.org/uniprot/A2RU49", "type": "synonym", "resource": "UniProtKB", "name": "Aminoglycoside phosphotransferase domain-containing protein 1" }, { "url": "https://www.uniprot.org/uniprot/A2RU49", "type": "recommended", "resource": "UniProtKB", "name": "Hydroxylysine kinase" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RU49", "type": "synonym", "resource": "RefSeq", "name": "aminoglycoside phosphotransferase domain-containing protein 1; 5-hydroxylysine kinase; 5-hydroxy-L-lysine kinase" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RU49", "type": "synonym", "resource": "RefSeq", "name": "hydroxylysine kinase isoform 1" } ] }