{ "uniprot_canonical_ac": "P12532-1", "uniprot_ac": "P12532", "uniprot_id": "KCRU_HUMAN", "mass": { "chemical_mass": 47037.0, "monoisotopic_mass": 47037.0 }, "refseq": { "ac": "NP_001015001", "name": "creatine kinase U-type, mitochondrial isoform 1 precursor", "summary": "Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" }, "gene_names": [ { "name": "CKMT1A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12532", "id": "P12532" }, { "name": "CKMT1B", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P12532", "id": "P12532" }, { "name": "CKMT1; mia-CK; U-MtCK", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001", "id": "NP_001015001" }, { "name": "CKMT1A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001", "id": "NP_001015001" }, { "name": "CKMT1B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12532", "id": "P12532" }, { "name": "CKMT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P12532", "id": "P12532" } ], "protein_names": [ { "name": "Creatine kinase U-type, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P12532" }, { "name": "2.7.3.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12532" }, { "name": "Acidic-type mitochondrial creatine kinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12532" }, { "name": "Mia-CK", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12532" }, { "name": "U-MtCK", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12532" }, { "name": "Ubiquitous mitochondrial creatine kinase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P12532" }, { "name": "creatine kinase U-type, mitochondrial isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001", "id": "NP_001015001" }, { "name": "creatine kinase, mitochondrial 1 (ubiquitous); creatine kinase U-type, mitochondrial; acidic-type mitochondrial creatine kinase; ubiquitous mitochondrial creatine kinase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001", "id": "NP_001015001" } ], "function": [ { "annotation": "A Zeb1/MtCK1 metabolic axis controls osteoclast activation and skeletal remodeling.", "evidence": [ { "database": "RefSeq", "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" }, { "database": "PubMed", "id": "36843552", "url": "https://glygen.org/publication/PubMed/36843552" } ] }, { "annotation": "An integrative pan-cancer analysis of molecular characteristics and oncogenic role of mitochondrial creatine kinase 1A (CKMT1A) in human tumors. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" }, { "database": "PubMed", "id": "35705641", "url": "https://glygen.org/publication/PubMed/35705641" } ] }, { "annotation": "CKMT1A is a novel potential prognostic biomarker in patients with endometrial cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" }, { "database": "PubMed", "id": "35077462", "url": "https://glygen.org/publication/PubMed/35077462" } ] }, { "annotation": "Ckmt1 is Dispensable for Mitochondrial Bioenergetics Within White/Beige Adipose Tissue. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" }, { "database": "PubMed", "id": "37954502", "url": "https://glygen.org/publication/PubMed/37954502" } ] }, { "annotation": "Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" } ] }, { "annotation": "Mitochondrial creatine kinase 1 in non-small cell lung cancer progression and hypoxia adaptation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" }, { "database": "PubMed", "id": "34210337", "url": "https://glygen.org/publication/PubMed/34210337" } ] }, { "annotation": "Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.", "evidence": [ { "database": "UniProtKB", "id": "C9J6W7", "url": "https://www.uniprot.org/uniprot/C9J6W7#function" }, { "database": "UniProtKB", "id": "ARBA00037274", "url": "https://www.uniprot.org/uniprot/ARBA00037274#function" }, { "database": "UniProtKB", "id": "F8WCN3", "url": "https://www.uniprot.org/uniprot/F8WCN3#function" }, { "database": "UniProtKB", "id": "C9JT96", "url": "https://www.uniprot.org/uniprot/C9JT96#function" }, { "database": "UniProtKB", "id": "C9JSQ1", "url": "https://www.uniprot.org/uniprot/C9JSQ1#function" }, { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532#function" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1460694563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1460694563" }, { "id": "rs1460694563", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1460694563" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 337, "end_pos": 337, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KDS->NDS).", "chr_id": "15", "chr_pos": "43698148", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K337", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1169182599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1169182599" }, { "id": "rs1169182599", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1169182599" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 413, "end_pos": 413, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IHT->NHT).", "chr_id": "15", "chr_pos": "43599257", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I413", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223572", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223572" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "89.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223572", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223572" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "59.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223572", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223572" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "98.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223572", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223572" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "66.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000223572", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223572" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "77.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223572", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223572" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "33.8", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000223572", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223572" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223572", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223572" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "77.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000223572", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000223572" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P12532", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12532" } ], "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": 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somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", 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"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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P12532", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12532" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": 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results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P12532", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P12532" } ], "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/P12532" } ], "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": [ { 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located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J8F6-1", "url": "https://www.uniprot.org/uniprot/C9J8F6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J995", "url": "https://www.uniprot.org/uniprot/C9J995", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J995-1", "url": "https://www.uniprot.org/uniprot/C9J995-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JFS8", "url": "https://www.uniprot.org/uniprot/C9JFS8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JFS8-1", "url": "https://www.uniprot.org/uniprot/C9JFS8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JJX8", "url": "https://www.uniprot.org/uniprot/C9JJX8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JJX8-1", "url": "https://www.uniprot.org/uniprot/C9JJX8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JSQ1", "url": "https://www.uniprot.org/uniprot/C9JSQ1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JSQ1-1", "url": "https://www.uniprot.org/uniprot/C9JSQ1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JT96", "url": "https://www.uniprot.org/uniprot/C9JT96", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JT96-1", "url": "https://www.uniprot.org/uniprot/C9JT96-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCN3", "url": "https://www.uniprot.org/uniprot/F8WCN3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCN3-1", "url": "https://www.uniprot.org/uniprot/F8WCN3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDP9", "url": "https://www.uniprot.org/uniprot/F8WDP9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WDP9-1", "url": "https://www.uniprot.org/uniprot/F8WDP9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WFC7", "url": "https://www.uniprot.org/uniprot/F8WFC7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WFC7-1", "url": "https://www.uniprot.org/uniprot/F8WFC7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12532-1", "url": "https://www.uniprot.org/uniprot/P12532-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P12532-2", "url": "https://www.uniprot.org/uniprot/P12532-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPSAEYPDLRKHNNCMASHLTPAVYARLCDKTTPTGWTLDQCIQTGVDNPGHPFIKTVGMVAGDEETYEVFADLFDPVIQERHNGYDPRTMKHTTDLDASKIRSGYFDERYVLSSRVRTGRSIRGLSLPPACTRAERREVERVVVDALSGLKGDLAGRYYRLSEMTEAEQQQLIDDHFLFDKPVSPLLTAAGMARDWPDARGIWHNNEKSFLIWVNEEDHTRVISMEKGGNMKRVFERFCRGLKEVERLIQERGWEFMWNERLGYILTCPSNLGTGLRAGVHIKLPLLSKDSRFPKILENLRLQKRGTGGVDTAATGGVFDISNLDRLGKSEVELVQLVIDGVNYLIDCERRLERGQDIRIPTPVIHTKH", "length": 417, "header": "sp|P12532-1|KCRU_HUMAN Isoform 1 of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "isoforms": [ { "isoform_ac": "C9J6W7-1", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPSQTWPTGQLPGNCTRSRRLCPPSMVTGYPLPSAEYPDLRKHNNCMASHLTPAVYARLCDKTTPTGWTLDQCIQTGVDNPGHPFIKTVGMVAGDEETYEVFADLFDPVIQERHNGYDPRTMKHTTDLDASKIRSGYFDERYVLSSRVRTGRSIRG", "length": 203, "header": "tr|C9J6W7-1|KCRU_HUMAN Computationally mapped isoform of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "locus": { "chromosome": "15", "start_pos": 43595927, "end_pos": 43594219, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453733.5", "url": "https://www.ensembl.org/id/ENST00000453733.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000411531.1", "url": "https://www.ensembl.org/id/ENSP00000411531.1" } ] } }, { "isoform_ac": "C9J8F6-1", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPSAEYPDLRKHNNCMASHLTPAVYARLCDKTTPTGWTLDQCIQTGVDNPGHPFIKTVGMVAGDEETYEVFADLFDPVIQERHNGYDPRTMKHTTDLDASK", "length": 148, "header": "tr|C9J8F6-1|KCRU_HUMAN Computationally mapped isoform of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "locus": { "chromosome": "15", "start_pos": 43695301, "end_pos": 43694051, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000411750.5", "url": "https://www.ensembl.org/id/ENST00000411750.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000398973.1", "url": "https://www.ensembl.org/id/ENSP00000398973.1" } ] } }, { "isoform_ac": "C9J995-1", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPSAEYPDLRKHNNCMASHLTPAVYARLCDKTTPTGWTLDQCIQTGVDNPGHPFIKTVGMVAGDEETYEVFADLFDPVIQER", "length": 129, "header": "tr|C9J995-1|KCRU_HUMAN Computationally mapped isoform of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "locus": { "chromosome": "15", "start_pos": 43595412, "end_pos": 43594219, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437924.5", "url": "https://www.ensembl.org/id/ENST00000437924.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391990.1", "url": "https://www.ensembl.org/id/ENSP00000391990.1" } ] } }, { "isoform_ac": "C9JFS8-1", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPSQTWPTGQLPGNCTRSRRLCPPSMVTGYPLPSAEYPDLRKHNNCMAS", "length": 96, "header": "tr|C9JFS8-1|KCRU_HUMAN Computationally mapped isoform of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "locus": { "chromosome": "15", "start_pos": 43595017, "end_pos": 43594219, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000449946.5", "url": "https://www.ensembl.org/id/ENST00000449946.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000416467.1", "url": "https://www.ensembl.org/id/ENSP00000416467.1" } ] } }, { "isoform_ac": "C9JJX8-1", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPSAEYPDLRKHNNCMASHLTPAVYARLCDKTTPTGWTLDQCIQTGVDNPGHPFIK", "length": 103, "header": "tr|C9JJX8-1|KCRU_HUMAN Computationally mapped isoform of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "locus": { "chromosome": "15", "start_pos": 43595131, "end_pos": 43594219, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417289.1", "url": "https://www.ensembl.org/id/ENST00000417289.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000396707.1", "url": "https://www.ensembl.org/id/ENSP00000396707.1" } ] } }, { "isoform_ac": "C9JSQ1-1", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPSAEYPDLRKHNNCMASHLTPAVYARLCDKTTPTGWTLDQCIQTGVDNPGHPFIKTVGMVAGDEETYEVFADLFDPVIQERHNGYDPRTMKHTTDLDASKIRSGYFDERYVLSSRVRTGRSIRGLSLPPACTRAERREVERVVVDALSGLKGDLAGRYYRLSEMTEAEQQQLIDDHFLFDKPVSPLLTAAGMA", "length": 241, "header": "tr|C9JSQ1-1|KCRU_HUMAN Computationally mapped isoform of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "locus": { "chromosome": "15", "start_pos": 43596263, "end_pos": 43594219, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453782.5", "url": "https://www.ensembl.org/id/ENST00000453782.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000413999.1", "url": "https://www.ensembl.org/id/ENSP00000413999.1" } ] } }, { "isoform_ac": "C9JT96-1", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPSQTWPTGQLPGNCTRSRRLCPPSMVTGYPLPSAEYPDLRKHNNCMASHLTPAVYARLCDKTTPTGWTLDQCIQTGVDNPGHPFIKTVGMVAGDEETYEVFADLFDPVIQERHNGYDPRTMKHTTDLDASKIRSGYFDERYVLSSRVRTGRSIRGLSLPPACTRAERREVERV", "length": 221, "header": "tr|C9JT96-1|KCRU_HUMAN Computationally mapped isoform of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=8 CANONICAL=P12532-1" }, "locus": { "chromosome": "15", "start_pos": 43695813, "end_pos": 43694051, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000415044.3", "url": "https://www.ensembl.org/id/ENST00000415044.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000401927.1", "url": "https://www.ensembl.org/id/ENSP00000401927.1" } ] } }, { "isoform_ac": "F8WCN3-1", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPSAEYPDLRKHNNCMASHLTPAVYARLCDKTTPTGWTLDQCIQTGVDNPGHPFIKTVGMVAGDEETYEVFADLFDPVIQERHNGYDPRTMKHTTDLDASKIRSGYFDERYVLSSRVRTGRSIRGLSLPPACTRAERREVERVVVDALSGLKGDLAGRYYRLSEMTEAEQQQLIDDHFLFDKPVSPLLTAAGMARDWPDARGIWHNNEKSFLIWVNEEDHTRVISMEKGGNMKRVFERFCRGLKEVVVGIK", "length": 298, "header": "tr|F8WCN3-1|KCRU_HUMAN Computationally mapped isoform of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "locus": { "chromosome": "15", "start_pos": 43597393, "end_pos": 43594219, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437534.3", "url": "https://www.ensembl.org/id/ENST00000437534.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000416717.1", "url": "https://www.ensembl.org/id/ENSP00000416717.1" } ] } }, { "isoform_ac": "F8WDP9-1", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPRLFPSSIRSVVSWEERTEQI", "length": 69, "header": "tr|F8WDP9-1|KCRU_HUMAN Computationally mapped isoform of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "locus": { "chromosome": "15", "start_pos": 43694584, "end_pos": 43694051, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457648.1", "url": "https://www.ensembl.org/id/ENST00000457648.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000389806.1", "url": "https://www.ensembl.org/id/ENSP00000389806.1" } ] } }, { "isoform_ac": "F8WFC7-1", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPRYLLTCLTL", "length": 58, "header": "tr|F8WFC7-1|KCRU_HUMAN Computationally mapped isoform of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "locus": { "chromosome": "15", "start_pos": 43595398, "end_pos": 43594219, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428981.1", "url": "https://www.ensembl.org/id/ENST00000428981.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000399467.1", "url": "https://www.ensembl.org/id/ENSP00000399467.1" } ] } }, { "isoform_ac": "P12532-1", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPSAEYPDLRKHNNCMASHLTPAVYARLCDKTTPTGWTLDQCIQTGVDNPGHPFIKTVGMVAGDEETYEVFADLFDPVIQERHNGYDPRTMKHTTDLDASKIRSGYFDERYVLSSRVRTGRSIRGLSLPPACTRAERREVERVVVDALSGLKGDLAGRYYRLSEMTEAEQQQLIDDHFLFDKPVSPLLTAAGMARDWPDARGIWHNNEKSFLIWVNEEDHTRVISMEKGGNMKRVFERFCRGLKEVERLIQERGWEFMWNERLGYILTCPSNLGTGLRAGVHIKLPLLSKDSRFPKILENLRLQKRGTGGVDTAATGGVFDISNLDRLGKSEVELVQLVIDGVNYLIDCERRLERGQDIRIPTPVIHTKH", "length": 417, "header": "sp|P12532-1|KCRU_HUMAN Isoform 1 of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "locus": { "chromosome": "15", "start_pos": 43599270, "end_pos": 43594219, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000441322.6", "url": "https://www.ensembl.org/id/ENST00000441322.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000413255.2", "url": "https://www.ensembl.org/id/ENSP00000413255.2" } ] } }, { "isoform_ac": "P12532-2", "url": "", "sequence": { "sequence": "MAGPFSRLLSARPGLRLLALAGAGSLAAGFLLRPEPVRAASERRRLYPPSQTWPTGQLPGNCTRSRRLCPPSMVTGYPLPSAEYPDLRKHNNCMASHLTPAVYARLCDKTTPTGWTLDQCIQTGVDNPGHPFIKTVGMVAGDEETYEVFADLFDPVIQERHNGYDPRTMKHTTDLDASKIRSGYFDERYVLSSRVRTGRSIRGLSLPPACTRAERREVERVVVDALSGLKGDLAGRYYRLSEMTEAEQQQLIDDHFLFDKPVSPLLTAAGMARDWPDARGIWHNNEKSFLIWVNEEDHTRVISMEKGGNMKRVFERFCRGLKEVERLIQERGWEFMWNERLGYILTCPSNLGTGLRAGVHIKLPLLSKDSRFPKILENLRLQKRGTGGVDTAATGGVFDISNLDRLGKSEVELVQLVIDGVNYLIDCERRLERGQDIRIPTPVIHTKH", "length": 448, "header": "sp|P12532-2|KCRU_HUMAN Isoform 2 of Creatine kinase U-type, mitochondrial OS=Homo sapiens OX=9606 GN=CKMT1A PE=1 SV=1 CANONICAL=P12532-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 82, "start_aa": "Thr", "end_pos": 82, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr82", "evidence": [ { "id": "P12532", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12532" }, { "id": "35008409", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35008409" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [ { "start_pos": 151, "end_pos": 151, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" } ], "site_lbl": "Ser151" }, { "start_pos": 153, "end_pos": 153, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12532", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12532" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P12532", "url": "http://phospho.elm.eu.org/byAccession/P12532.html" } ], "site_lbl": "Tyr153" }, { "start_pos": 161, "end_pos": 161, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P12532", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12532" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser161" }, { "start_pos": 196, "end_pos": 196, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" } ], "site_lbl": "Ser196" }, { "start_pos": 213, "end_pos": 213, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" } ], "site_lbl": "Thr213" }, { "start_pos": 232, "end_pos": 232, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" } ], "site_lbl": "Ser232" }, { "start_pos": 355, "end_pos": 355, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" } ], "site_lbl": "Thr355" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Crystal structure of human ubiquitous mitochondrial creatine kinase.", "journal": "Proteins", "date": "2000", "authors": "Eder M, Fritz-Wolf K, Kabsch W, Wallimann T, Schlattner U", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" } ], "reference": [ { "type": "PubMed", "id": "10737943", "url": "https://glygen.org/publication/PubMed/10737943" } ] }, { "title": "Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.", "journal": "American journal of human genetics", "date": "2001", "authors": "Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G", "evidence": [ { "database": "Reactome", "id": "R-HSA-71288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71288" } ], "reference": [ { "type": "PubMed", "id": "11555793", "url": "https://glygen.org/publication/PubMed/11555793" } ] }, { "title": "X-linked creatine transporter defect: an overview.", "journal": "Journal of inherited metabolic disease", "date": "2003", "authors": "Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C", "evidence": [ { "database": "Reactome", "id": "R-HSA-71288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71288" } ], "reference": [ { "type": "PubMed", "id": "12889669", "url": "https://glygen.org/publication/PubMed/12889669" } ] }, { "title": "C-terminal lysines determine phospholipid interaction of sarcomeric mitochondrial creatine kinase.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Schlattner U, Gehring F, Vernoux N, Tokarska-Schlattner M, Neumann D, Marcillat O, Vial C, Wallimann T", "evidence": [ { "database": "Reactome", "id": "R-HSA-71288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71288" } ], "reference": [ { "type": "PubMed", "id": "15044463", "url": "https://glygen.org/publication/PubMed/15044463" } ] }, { "title": "Exploring the role of the active site cysteine in human muscle creatine kinase.", "journal": "Biochemistry", "date": "2006", "authors": "Wang PF, Flynn AJ, Naor MM, Jensen JH, Cui G, Merz KM Jr, Kenyon GL, McLeish MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-71288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71288" } ], "reference": [ { "type": "PubMed", "id": "16981706", "url": "https://glygen.org/publication/PubMed/16981706" } ] }, { "title": "Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.", "journal": "Cell", "date": "2007", "authors": "Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, Nardone J, Lee K, Reeves C, Li Y, Hu Y, Tan Z, Stokes M, Sullivan L, Mitchell J, Wetzel R, Macneill J, Ren JM, Yuan J, Bakalarski CE, Villen J, Kornhauser JM, Smith B, Li D, Zhou X, Gygi SP, Gu TL, Polakiewicz RD, Rush J, Comb MJ", "evidence": [ { "database": "iPTMnet", "id": "P12532-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12532-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P12532-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P12532-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Separate nuclear genes encode sarcomere-specific and ubiquitous human mitochondrial creatine kinase isoenzymes.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Haas RC, Strauss AW", "evidence": [ { "database": "Reactome", "id": "R-HSA-71288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71288" } ], "reference": [ { "type": "PubMed", "id": "2324105", "url": "https://glygen.org/publication/PubMed/2324105" } ] }, { "title": "Isolation and characterization of the gene and cDNA encoding human mitochondrial creatine kinase.", "journal": "J. Biol. Chem.", "date": "1989", "authors": "Haas RC, Korenfeld C, Zhang ZF, Perryman B, Roman D, Strauss AW", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" }, { "database": "Reactome", "id": "R-HSA-71288", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-71288" } ], "reference": [ { "type": "PubMed", "id": "2914937", "url": "https://glygen.org/publication/PubMed/2914937" } ] }, { "title": "Mitochondrial creatine kinase 1 in non-small cell lung cancer progression and hypoxia adaptation.", "journal": "Respiratory research", "date": "2021", "authors": "Li M, Liu H, Li J, Guo S, Lv Y", "evidence": [ { "database": "RefSeq", "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" } ], "reference": [ { "type": "PubMed", "id": "34210337", "url": "https://glygen.org/publication/PubMed/34210337" } ] }, { "title": "Comparative O-GlcNAc Proteomic Analysis Reveals a Role of O-GlcNAcylated SAM68 in Lung Cancer Aggressiveness.", "journal": "Cancers", "date": "2022", "authors": "Lin CH, Liao CC, Wang SY, Peng CY, Yeh YC, Chen MY, Chou TY", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12532", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12532" } ], "reference": [ { "type": "PubMed", "id": "35008409", "url": "https://glygen.org/publication/PubMed/35008409" } ] }, { "title": "CKMT1A is a novel potential prognostic biomarker in patients with endometrial cancer.", "journal": "PloS one", "date": "2022", "authors": "Wang Y, Zhao S, Qin Q, Gao X, Zhang X, Zhang M, Jiang Y, Ji X, Zhu H, Zhao X, Li H", "evidence": [ { "database": "RefSeq", "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" } ], "reference": [ { "type": "PubMed", "id": "35077462", "url": "https://glygen.org/publication/PubMed/35077462" } ] }, { "title": "O-GlcNAcylation promotes fatty acid synthase activity under nutritional stress as a pro-survival mechanism in cancer cells.", "journal": "Proteomics", "date": "2022", "authors": "Wong YK, Wang J, Lim TK, Lin Q, Yap CT, Shen HM", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12532", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12532" } ], "reference": [ { "type": "PubMed", "id": "35083852", "url": "https://glygen.org/publication/PubMed/35083852" } ] }, { "title": "An integrative pan-cancer analysis of molecular characteristics and oncogenic role of mitochondrial creatine kinase 1A (CKMT1A) in human tumors.", "journal": "Scientific reports", "date": "2022", "authors": "Yang M, Liu S, Xiong Y, Zhao J, Deng W", "evidence": [ { "database": "RefSeq", "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" } ], "reference": [ { "type": "PubMed", "id": "35705641", "url": "https://glygen.org/publication/PubMed/35705641" } ] }, { "title": "A Zeb1/MtCK1 metabolic axis controls osteoclast activation and skeletal remodeling.", "journal": "The EMBO journal", "date": "2023-04-03", "authors": "Zhu Lingxin, Tang Yi, Li Xiao-Yan, Kerk Samuel A, Lyssiotis Costas A, Feng Wenqing, Sun Xiaoyue, Hespe Geoffrey E, Wang Zijun, Stemmler Marc P, Brabletz Simone, Brabletz Thomas, Keller Evan T, Ma Jun, Cho Jung-Sun, Yang Jingwen, Weiss Stephen J", "evidence": [ { "database": "RefSeq", "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" } ], "reference": [ { "type": "PubMed", "id": "36843552", "url": "https://glygen.org/publication/PubMed/36843552" } ] }, { "title": "Ckmt1 is Dispensable for Mitochondrial Bioenergetics Within White/Beige Adipose Tissue.", "journal": "Function (Oxford, England)", "date": "2022", "authors": "Politis-Barber Valerie, Petrick Heather L, Raajendiran Arthe, DesOrmeaux Genevieve J, Brunetta Henver S, Dos Reis Larissa M, Mori Marcelo A, Wright David C, Watt Matthew J, Holloway Graham P", "evidence": [ { "database": "RefSeq", "id": "NP_001015001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015001" } ], "reference": [ { "type": "PubMed", "id": "37954502", "url": "https://glygen.org/publication/PubMed/37954502" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P12532", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P12532" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "The cloning and expression of a human creatine transporter.", "journal": "Biochemical and biophysical research communications", "date": "1994", "authors": "Sora I, Richman J, Santoro G, Wei H, Wang Y, Vanderah T, Horvath R, Nguyen M, Waite S, Roeske WR, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-71288", "url": 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], "pmid": "" }, { "name": "phosphorylation", "id": "GO:0016310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "creatine kinase activity", "id": "GO:0004111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004111", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P12532", "url": "https://www.uniprot.org/uniprot/P12532" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "17157", "name": "", "equation": "ATP + creatine = ADP + H(+) + N-phosphocreatine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07335-1", "P09605-1", "P00564-1", "P25809-1", "P12277-1", "P06732-1", "P12532-1", "P17540-1", "P30275-1", "P07310-1", "Q6P8J7-1", "Q04447-1" ], "evidence": [ { "id": "17157", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17157" } ] }, { "id": "R-HSA-200326", "name": "creatine + ATP => phosphocreatine + ADP [CK octamer]", "equation": "", "summary": "Creatine kinase octamers associated with the inner mitochondrial membrane catalyze the reaction of creatine and ATP to form phosphocreatine and ADP. Two mitochondrial creatine kinase proteins have been identified, one encoded by CKMT1A and B that is found in many tissues and one encoded by CKMT2 that is found in sarcomeres (Haas et al. 1988; Haas and Straus 1990). Studies of sarcomeric creatine kinase octamers suggest that their organization and association with phospholipids in the inner mitochondrial membrane may facilitate energy transfer from ATP generated in the mitochondrial matrix to cytosolic phosphocreatine (Khuchua et al. 1998; Schlattner et al. 2004).", "cellular_location": "cytosol, mitochondrial inner membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P12532-1", "P17540-1" ], "evidence": [ { "id": "R-HSA-200326", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200326" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P00564", "gene_name": "Ckm", "activity": [ { "ec_number": "2.7.3.2", "activity": "ATP + creatine = ADP + H(+) + N-phosphocreatine.", "evidence": [ { "id": "P00564", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00564" } ] }, { "ec_number": "2.7.3.2", "activity": "", "evidence": [ { "id": "P00564", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P00564" } ] } ] }, { "uniprot_ac": "P06732", "gene_name": "CKM", "activity": [ { "ec_number": "2.7.3.2", "activity": "ATP + creatine = ADP + H(+) + N-phosphocreatine.", "evidence": [ { "id": "P06732", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06732" } ] }, { "ec_number": "2.7.3.2", "activity": "", "evidence": [ { "id": "P06732", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P06732" } ] } ] }, { "uniprot_ac": "P07310", "gene_name": "Ckm", "activity": [ { "ec_number": "2.7.3.2", "activity": "ATP + creatine = ADP + H(+) + N-phosphocreatine.", "evidence": [ { "id": "P07310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07310" } ] }, { "ec_number": "2.7.3.2", "activity": "", "evidence": [ { "id": "P07310", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07310" } ] } ] }, { "uniprot_ac": "P07335", "gene_name": "Ckb", "activity": [ { "ec_number": "2.7.3.2", "activity": "ATP + creatine = ADP + H(+) + N-phosphocreatine.", "evidence": [ { "id": "P07335", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07335" } ] }, { "ec_number": "2.7.3.2", "activity": "", "evidence": [ { "id": "P07335", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P07335" } ] } ] }, { "uniprot_ac": "P09605", "gene_name": "Ckmt2", "activity": [ { "ec_number": "2.7.3.2", "activity": "ATP + creatine = ADP + H(+) + N-phosphocreatine.", "evidence": [ { "id": "P09605", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09605" } ] }, { "ec_number": "2.7.3.2", "activity": "", "evidence": [ { "id": "P09605", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09605" } ] } ] }, { "uniprot_ac": "P12277", "gene_name": "CKB", "activity": [ { "ec_number": "2.7.3.2", "activity": "ATP + creatine = ADP + H(+) + N-phosphocreatine.", "evidence": [ { "id": "P12277", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12277" } ] }, { "ec_number": "2.7.3.2", "activity": "", "evidence": [ { "id": "P12277", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12277" } ] } ] }, { "uniprot_ac": "P12532", "gene_name": "CKMT1A", "activity": [ { "ec_number": "2.7.3.2", "activity": "ATP + creatine = ADP + H(+) + N-phosphocreatine.", "evidence": [ { "id": "P12532", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12532" } ] }, { "ec_number": "2.7.3.2", "activity": "", "evidence": [ { "id": "P12532", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12532" } ] } ] }, { "uniprot_ac": "P17540", "gene_name": "CKMT2", "activity": [ { "ec_number": "2.7.3.2", "activity": "ATP + creatine = ADP + H(+) + N-phosphocreatine.", "evidence": [ { "id": "P17540", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17540" } ] }, { "ec_number": "2.7.3.2", "activity": "", "evidence": [ { "id": "P17540", "database": "UniProtKB", "url": 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