{ "uniprot_canonical_ac": "P04183-1", "uniprot_ac": "P04183", "uniprot_id": "KITH_HUMAN", "mass": { "chemical_mass": 25469.0, "monoisotopic_mass": 25469.0 }, "refseq": { "ac": "NP_003249", "name": "thymidine kinase, cytosolic isoform 1", "summary": "The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003249" }, "gene_names": [ { "name": "TK1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04183", "id": "P04183" }, { "name": "TK1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003249", "id": "NP_003249" }, { "name": "TK2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003249", "id": "NP_003249" } ], "protein_names": [ { "name": "Thymidine kinase, cytosolic", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04183" }, { "name": "2.7.1.21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04183" }, { "name": "thymidine kinase, cytosolic isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003249", "id": "NP_003249" }, { "name": "thymidine kinase, cytosolic; epididymis secretory sperm binding protein; cytosolic thymidine kinase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003249", "id": "NP_003249" } ], "function": [ { "annotation": "Cell-cycle-regulated enzyme of importance in nucleotide metabolism (PubMed:9575153). Catalyzes the first enzymatic step in the salvage pathway converting thymidine into thymidine monophosphate (PubMed:22385435). Transcriptional regulation limits expression to the S phase of the cell cycle and transient expression coincides with the oscillation in the intracellular dTTP concentration (Probable). Also important for the activation of anticancer and antiviral nucleoside analog prodrugs such as 1-b-d-arabinofuranosylcytosine (AraC) and 3c-azido-3c-deoxythymidine (AZT) (PubMed:22385435).", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183#function" }, { "database": "PubMed", "id": "9575153", "url": "https://glygen.org/publication/PubMed/9575153" }, { "database": "PubMed", "id": "22385435", "url": "https://glygen.org/publication/PubMed/22385435" }, { "database": "PubMed", "id": "17407781", "url": "https://glygen.org/publication/PubMed/17407781" } ] }, { "annotation": "Clinical Significance of the TK1-Specific Activity in the Early Detection of Ovarian Cancer. Erratum:[Oncology. 2023;101(12):843. PMID: 37903463]", "evidence": [ { "database": "RefSeq", "id": "NP_003249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003249" }, { "database": "PubMed", "id": "37673047", "url": "https://glygen.org/publication/PubMed/37673047" } ] }, { "annotation": "Prediction of Overall Survival by Thymidine Kinase 1 Combined with Prostate-Specific Antigen in Men with Prostate Cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003249" }, { "database": "PubMed", "id": "36982234", "url": "https://glygen.org/publication/PubMed/36982234" } ] }, { "annotation": "TK1 expression influences pathogenicity by cell cycle progression, cellular migration, and cellular survival in HCC 1806 breast cancer cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003249" }, { "database": "PubMed", "id": "38033034", "url": "https://glygen.org/publication/PubMed/38033034" } ] }, { "annotation": "The enzymatic function at the G2/M phase of TK1 depends on its quaternary structure", "evidence": [ { "database": "RefSeq", "id": "NP_003249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003249" }, { "database": "PubMed", "id": "14697231", "url": "https://glygen.org/publication/PubMed/14697231" } ] }, { "annotation": "The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_003249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003249" } ] }, { "annotation": "Transcription factor Dp-1 knockdown downregulates thymidine kinase 1 expression to protect against proliferation and epithelial-mesenchymal transition in cervical cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003249", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003249" }, { "database": "PubMed", "id": "37715794", "url": "https://glygen.org/publication/PubMed/37715794" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1393509067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1393509067" }, { "id": "rs1393509067", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1393509067#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 15, "end_pos": 15, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SKT->NKT).", "chr_id": "17", "chr_pos": "78186951", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1452814884", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1452814884" }, { "id": "rs1452814884", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1452814884" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 207, "end_pos": 207, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCP->NCS).", "chr_id": "17", "chr_pos": "78174845", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P207", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775606662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775606662" }, { "id": "rs775606662", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775606662" }, { "id": "rs775606662", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs775606662#frequency_tab" }, { "id": "rs775606662", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775606662" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 73, "end_pos": 73, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTM->NTT).", "chr_id": "17", "chr_pos": "78182674", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M73", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 124, "end_pos": 124, "sequence_org": "L", "sequence_mut": "A", "comment": "30-fold higher KM for thymidine.", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "22385435", "url": "https://glygen.org/publication/PubMed/22385435" } ] }, { "start_pos": 13, "end_pos": 13, "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation. Constant expression during cell cycle. No effect on ATP-induced tetramerization.", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "9575153", "url": "https://glygen.org/publication/PubMed/9575153" }, { "database": "PubMed", "id": "14701726", "url": "https://glygen.org/publication/PubMed/14701726" }, { "database": "PubMed", "id": "14697231", "url": "https://glygen.org/publication/PubMed/14697231" } ] }, { "start_pos": 13, "end_pos": 13, "sequence_org": "S", "sequence_mut": "D", "comment": "Perturbes ATP-induced tetramerization. Retaines the enzymatic function with decreased thymidine affinity and catalytic efficiency.", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "14697231", "url": "https://glygen.org/publication/PubMed/14697231" } ] }, { "start_pos": 163, "end_pos": 163, "sequence_org": "T", "sequence_mut": "S", "comment": "50-fold higher KM for thymidine.", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "22385435", "url": "https://glygen.org/publication/PubMed/22385435" } ] }, { "start_pos": 194, "end_pos": 194, "sequence_org": "S", "sequence_mut": "P", "comment": "No effect on phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "9575153", "url": "https://glygen.org/publication/PubMed/9575153" } ] }, { "start_pos": 203, "end_pos": 203, "sequence_org": "K", "sequence_mut": "A", "comment": "Resistant to degradation in the mitotic exit phase.", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "14701726", "url": "https://glygen.org/publication/PubMed/14701726" } ] }, { "start_pos": 203, "end_pos": 204, "sequence_org": "KE", "sequence_mut": "AA", "comment": "Resistant to degradation in the mitotic exit phase.", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "14701726", "url": "https://glygen.org/publication/PubMed/14701726" } ] }, { "start_pos": 203, "end_pos": 205, "sequence_org": "KEN", "sequence_mut": "AAA", "comment": "Resistant to degradation in the mitotic exit phase.", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "14701726", "url": "https://glygen.org/publication/PubMed/14701726" } ] }, { "start_pos": 28, "end_pos": 28, "sequence_org": "M", "sequence_mut": "A", "comment": "300-fold higher KM for thymidine.", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "22385435", "url": "https://glygen.org/publication/PubMed/22385435" } ] }, { "start_pos": 28, "end_pos": 28, "sequence_org": "M", "sequence_mut": "I", "comment": "300-fold higher KM for thymidine.", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "22385435", "url": "https://glygen.org/publication/PubMed/22385435" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "67.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "73.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "56.95", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "70.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "69.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "62.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "66.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "66.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "76.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "73.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000167900", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000167900" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P04183", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04183" } ], "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": 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"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": "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" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04183", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04183" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "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": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04183", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04183" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04183" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P04183", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04183" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:7083", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7083", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "188300", "url": "http://www.omim.org/entry/188300", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P04183", "url": "https://www.nextprot.org/entry/NX_P04183", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P04183", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04183", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "EAYEPRC", "url": "https://omabrowser.org/oma/group/EAYEPRC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "674053at2759", "url": "http://www.orthodb.org/?query=674053at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11441", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11441", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11441:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11441:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1W4R", "url": "https://www.rcsb.org/structure/1W4R", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1XBT", "url": "https://www.rcsb.org/structure/1XBT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2ORV", "url": "https://www.rcsb.org/structure/2ORV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2WVJ", "url": "https://www.rcsb.org/structure/2WVJ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00265", "url": "http://pfam.xfam.org/family/PF00265", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P04183", "url": "https://pharos.nih.gov/targets/P04183", "database": "PHAROS", 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"url": "https://www.uniprot.org/uniprot/K7ERJ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERJ1-1", "url": "https://www.uniprot.org/uniprot/K7ERJ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERV3", "url": "https://www.uniprot.org/uniprot/K7ERV3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ERV3-1", "url": "https://www.uniprot.org/uniprot/K7ERV3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ES52", "url": "https://www.uniprot.org/uniprot/K7ES52", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "K7ES52-1", "url": "https://www.uniprot.org/uniprot/K7ES52-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04183-1", "url": "https://www.uniprot.org/uniprot/P04183-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSCINLPTVLPGSPSKTRGQIQVILGPMFSGKSTELMRRVRRFQIAQYKCLVIKYAKDTRYSSSFCTHDRNTMEALPACLLRDVAQEALGVAVIGIDEGQFFPDIVEFCEAMANAGKTVIVAALDGTFQRKPFGAILNLVPLAESVVKLTAVCMECFREAAYTKRLGTEKEVEVIGGADKYHSVCRLCYFKKASGQPAGPDNKENCPVPGKPGEAVAARKLFAPQQILQCSPAN", "length": 234, "header": "sp|P04183-1|KITH_HUMAN Isoform 1 of Thymidine kinase, cytosolic OS=Homo sapiens OX=9606 GN=TK1 PE=1 SV=2 CANONICAL=P04183-1" }, "isoforms": [ { "isoform_ac": "K7ENW5-1", "url": "", "sequence": { "sequence": "MSCINLPTVLPGSPSKTRGQIQVILGPMFSGKSTELMRRVRRFQIAQYKCLVIKYAKDTRYSSSFCTHDRSLTSWSSARPWPTPGRP", "length": 87, "header": "tr|K7ENW5-1|KITH_HUMAN Computationally mapped isoform of Thymidine kinase, cytosolic OS=Homo sapiens OX=9606 GN=TK1 PE=1 SV=1 CANONICAL=P04183-1" }, "locus": { "chromosome": "17", "start_pos": 78186994, "end_pos": 78175567, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590430.5", "url": "https://www.ensembl.org/id/ENST00000590430.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000467121.1", "url": "https://www.ensembl.org/id/ENSP00000467121.1" } ] } }, { "isoform_ac": "K7ERJ1-1", "url": "", "sequence": { "sequence": "MSCINLPTVLPGSPSKTRGQIQVILGPMFSGKSTELMRRVRRFQIAQYKCLVIKYAKDTRYSSSFCTHDRTRSRIIARNTMEALPACLLRDVAQEALGVAVIGIDEGQFFPDIVEFCEAMANAGKTVIVAALDGTFQRKPFGAILNLVPLAESVVKLTAVCMECFREAAYTKRLGTEKEVEVIGGAD", "length": 187, "header": "tr|K7ERJ1-1|K7ERJ1_HUMAN Computationally mapped isoform of Thymidine kinase OS=Homo sapiens OX=9606 GN=TK1 PE=1 SV=1 CANONICAL=P04183-1" }, "locus": { "chromosome": "17", "start_pos": 78186994, "end_pos": 78174927, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586613.1", "url": "https://www.ensembl.org/id/ENST00000586613.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468278.1", "url": "https://www.ensembl.org/id/ENSP00000468278.1" } ] } }, { "isoform_ac": "K7ERV3-1", "url": "", "sequence": { "sequence": "MSCINLPTVLPGSPSKTRGQIQVILGPMFSGKSTELMRRVRRFQIAQYKCLVIKYAKDTRYSSSFCTHDRNTMEALPACLLRDVAQEALGVAVIGIDEGQFFPDIVEFCEAMANAGKTVIVAALDGTFQRKPFGAILNLVPLAESVVKLTAVCMECFREAAYTKRLGTEKEVAPPAFPAGRRGGGMALPPSCPGPSPIPCPCGQVEVIGGADKYHSVCRLCYFKKASGQPAGPDNKENCPVPGKPGEAVAARKLFAPQQILQCSPAN", "length": 267, "header": "tr|K7ERV3-1|K7ERV3_HUMAN Computationally mapped isoform of Thymidine kinase OS=Homo sapiens OX=9606 GN=TK1 PE=1 SV=1 CANONICAL=P04183-1" }, "locus": { "chromosome": "17", "start_pos": 78186994, "end_pos": 78174762, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000588734.5", "url": "https://www.ensembl.org/id/ENST00000588734.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468425.1", "url": "https://www.ensembl.org/id/ENSP00000468425.1" } ] } }, { "isoform_ac": "K7ES52-1", "url": "", "sequence": { "sequence": "MSCINLPTVLPGSPSKTRGQIQVILGPMFSGKSTELMRRVRRFQIAQYKCLVIKYAKDTRYSSSFCTHDRNTMEALPACLLRDVAQEALGVAVIGIDEGQFFPDIVEFCEAMANAGKTVIVAALDGTFQRKPFGAILNLVPLAESVVKLTAVCMECFREAAYTKRLGTEKEQILQCSPAN", "length": 180, "header": "tr|K7ES52-1|KITH_HUMAN Computationally mapped isoform of Thymidine kinase, cytosolic OS=Homo sapiens OX=9606 GN=TK1 PE=1 SV=1 CANONICAL=P04183-1" }, "locus": { "chromosome": "17", "start_pos": 78186994, "end_pos": 78174762, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000590862.5", "url": "https://www.ensembl.org/id/ENST00000590862.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468556.1", "url": "https://www.ensembl.org/id/ENSP00000468556.1" } ] } }, { "isoform_ac": "P04183-1", "url": "", "sequence": { "sequence": "MSCINLPTVLPGSPSKTRGQIQVILGPMFSGKSTELMRRVRRFQIAQYKCLVIKYAKDTRYSSSFCTHDRNTMEALPACLLRDVAQEALGVAVIGIDEGQFFPDIVEFCEAMANAGKTVIVAALDGTFQRKPFGAILNLVPLAESVVKLTAVCMECFREAAYTKRLGTEKEVEVIGGADKYHSVCRLCYFKKASGQPAGPDNKENCPVPGKPGEAVAARKLFAPQQILQCSPAN", "length": 234, "header": "sp|P04183-1|KITH_HUMAN Isoform 1 of Thymidine kinase, cytosolic OS=Homo sapiens OX=9606 GN=TK1 PE=1 SV=2 CANONICAL=P04183-1" }, "locus": { "chromosome": "17", "start_pos": 78186994, "end_pos": 78174762, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000301634.12", "url": "https://www.ensembl.org/id/ENST00000301634.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000301634.6", "url": "https://www.ensembl.org/id/ENSP00000301634.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 30, "start_aa": "Ser", "end_pos": 30, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser30", "evidence": [ { "id": "P04183", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04183" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "16408927", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16408927" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "34229054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34229054" } ] } ], "phosphorylation": [ { "start_pos": 13, "end_pos": 13, "kinase_uniprot_canonical_ac": "P06493-1", "kinase_gene_name": "CDK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04183", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04183" }, { "database": "PubMed", "id": "14697231", "url": "https://glygen.org/publication/PubMed/14697231" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "9575153", "url": "https://glygen.org/publication/PubMed/9575153" }, { "database": "phospho.ELM", "id": "P04183", "url": "http://phospho.elm.eu.org/byAccession/P04183.html" }, { "database": "PubMed", "id": "12435275", "url": "https://glygen.org/publication/PubMed/12435275" } ], "site_lbl": "Ser13" }, { "start_pos": 13, "end_pos": 13, "kinase_uniprot_canonical_ac": "P24941-1", "kinase_gene_name": "CDK2", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P04183", "url": "http://phospho.elm.eu.org/byAccession/P04183.html" }, { "database": "iPTMnet", "id": "P04183", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04183" }, { "database": "PubMed", "id": "9575153", "url": "https://glygen.org/publication/PubMed/9575153" }, { "database": "PubMed", "id": "12435275", "url": "https://glygen.org/publication/PubMed/12435275" }, { "database": "PubMed", "id": "14697231", "url": "https://glygen.org/publication/PubMed/14697231" } ], "site_lbl": "Ser13" }, { "start_pos": 13, "end_pos": 13, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "9575153", "url": "https://glygen.org/publication/PubMed/9575153" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "14697231", "url": "https://glygen.org/publication/PubMed/14697231" }, { "database": "iPTMnet", "id": "P04183", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04183" }, { "database": "PubMed", "id": "25003822", "url": "https://glygen.org/publication/PubMed/25003822" } ], "site_lbl": "Ser13" }, { "start_pos": 15, "end_pos": 15, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04183", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04183" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser15" }, { "start_pos": 231, "end_pos": 231, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "iPTMnet", "id": "P04183", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04183" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "phospho.ELM", "id": "P04183", "url": "http://phospho.elm.eu.org/byAccession/P04183.html" }, { "database": "PubMed", "id": "25003822", "url": "https://glygen.org/publication/PubMed/25003822" } ], "site_lbl": "Ser231" }, { "start_pos": 2, "end_pos": 2, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04183", "url": "https://www.uniprot.org/uniprot/P04183" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P04183", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04183" } ], "site_lbl": "Ser2" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "E2F mediates developmental and cell cycle regulation of ORC1 in Drosophila.", "journal": "The EMBO journal", "date": "1999", "authors": "Asano M, Wharton RP", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10228158", "url": "https://glygen.org/publication/PubMed/10228158" } ] }, { "title": "CDC25A phosphatase is a target of E2F and is required for efficient E2F-induced S phase.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Vigo E, Muller H, Prosperini E, Hateboer G, Cartwright P, Moroni MC, Helin K", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10454584", "url": "https://glygen.org/publication/PubMed/10454584" } ] }, { "title": "Association of Pur alpha and E2F-1 suppresses transcriptional activity of E2F-1.", "journal": "Oncogene", "date": "1999", "authors": "Darbinian N, Gallia GL, Kundu M, Shcherbik N, Tretiakova A, Giordano A, Khalili K", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10597240", "url": "https://glygen.org/publication/PubMed/10597240" } ] }, { "title": "Human deoxythymidine kinase. I. Purification and general properties of the cytoplasmic and mitochondrial isozymes derived from blast cells of acute myelocytic leukemia.", "journal": "The Journal of biological chemistry", "date": "1976", "authors": "Lee LS, Cheng YC", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "1063125", "url": "https://glygen.org/publication/PubMed/1063125" } ] }, { "title": "Cdk2-dependent and -independent pathways in E2F-mediated S phase induction.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Arata Y, Fujita M, Ohtani K, Kijima S, Kato JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "10692433", "url": "https://glygen.org/publication/PubMed/10692433" } ] }, { "title": "Phosphorylation of uridine and cytidine nucleoside analogs by two human uridine-cytidine kinases.", "journal": "Molecular pharmacology", "date": "2001", "authors": "Van Rompay AR, Norda A, Linden K, Johansson M, Karlsson A", "evidence": [ { "database": "Reactome", "id": "R-HSA-73614", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73614" } ], "reference": [ { "type": "PubMed", "id": "11306702", "url": "https://glygen.org/publication/PubMed/11306702" } ] }, { "title": "E2F mediates cell cycle-dependent transcriptional repression in vivo by recruitment of an HDAC1/mSin3B corepressor complex.", "journal": "Genes & development", "date": "2002", "authors": "Rayman JB, Takahashi Y, Indjeian VB, Dannenberg JH, Catchpole S, Watson RJ, te Riele H, Dynlacht BD", "evidence": [ { "database": "Reactome", "id": "R-HSA-69205", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-69205" } ], "reference": [ { "type": "PubMed", "id": "11959842", "url": "https://glygen.org/publication/PubMed/11959842" } ] }, { "title": "E2F-dependent 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TK1 has been purified from human spleen and from cultured cells. The enzyme is active as a homotetramer, and phosphorylates thymidine and deoxyuridine using ATP as a phosphate donor in vitro (Sherley and Kelly 1988a; Munch-Petersen et al. 1991; Birringer et al. 2005). Divalent cations are required for enzyme activity (Mg++ is preferred) (Lee and Cheng 1986), and ATP stabilizes the tetrameric form of the enzyme (Munch-Petersen et al. 1993). In cells, enzyme activity is high during S phase of the cell cycle and low otherwise, correlated with intracellular levels of thymidine kinase 1 protein (Sherley and Kelly 1988b), and consistent with a requirement for TMP synthesis in normal cells only as part of DNA replication.", "cellular_location": "cytosol", "input_participant_list": [ "R-ALL-83928" ], "output_participant_list": [ "R-ALL-109366" ], "enzyme_list": [ "P04183-1" ], "evidence": [ { "id": "R-HSA-73632", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73632" } ] }, { "id": "R-HSA-8962039", "name": "TK1 gene expression is stimulated by E2F1", "equation": "", "summary": "E2F1 directly stimulates transcription of the TK1 gene, encoding thymidine kinase (Dou et al. 1994, DeGregori et al. 1995, Giangrande et al. 2004).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-8954007" ], "output_participant_list": [ "R-HSA-73500" ], "enzyme_list": [ "P04183-1" ], "evidence": [ { 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