{ "uniprot_canonical_ac": "Q6UUV9-1", "uniprot_ac": "Q6UUV9", "uniprot_id": "CRTC1_HUMAN", "mass": { "chemical_mass": 67300.0, "monoisotopic_mass": 67300.0 }, "refseq": { "ac": "NP_001091952", "name": "CREB-regulated transcription coactivator 1 isoform 3", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952" }, "gene_names": [ { "name": "CRTC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q6UUV9", "id": "Q6UUV9" }, { "name": "CRTC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952", "id": "NP_001091952" }, { "name": "KIAA0616", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q6UUV9", "id": "Q6UUV9" }, { "name": "MECT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q6UUV9", "id": "Q6UUV9" }, { "name": "Mam-2; MAML2; MECT1; TORC-1; TORC1; WAMTP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952", "id": "NP_001091952" }, { "name": "TORC1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q6UUV9", "id": "Q6UUV9" }, { "name": "WAMTP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q6UUV9", "id": "Q6UUV9" } ], "protein_names": [ { "name": "CREB-regulated transcription coactivator 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q6UUV9" }, { "name": "CREB-regulated transcription coactivator 1 isoform 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952", "id": "NP_001091952" }, { "name": "Mucoepidermoid carcinoma translocated protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6UUV9" }, { "name": "TORC-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6UUV9" }, { "name": "Transducer of CREB protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6UUV9" }, { "name": "Transducer of regulated cAMP response element-binding protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6UUV9" }, { "name": "transducer of regulated cAMP response element-binding protein (CREB) 1; mucoepidermoid carcinoma translocated protein 1; Mastermind-like protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952", "id": "NP_001091952" } ], "function": [ { "annotation": "(Microbial infection) Plays a role of coactivator for TAX activation of the human T-cell leukemia virus type 1 (HTLV-1) long terminal repeats (LTR).", "evidence": [ { "database": "UniProtKB", "id": "Q6UUV9", "url": "https://www.uniprot.org/uniprot/Q6UUV9#function" }, { "database": "PubMed", "id": "16809310", "url": "https://glygen.org/publication/PubMed/16809310" } ] }, { "annotation": "Cloning and functional analyses of the t(11;19) fusion oncogene: t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway. Erratum:[Nat Genet. 2003 Mar;33(3):430]", "evidence": [ { "database": "RefSeq", "id": "NP_001091952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952" }, { "database": "PubMed", "id": "12539049", "url": "https://glygen.org/publication/PubMed/12539049" } ] }, { "annotation": "Cloning of a novel fusion gene in mucoepidermoid carcinomas & benign Warthin's tumors; the fusion, which results from a translocation, creates a chimeric gene in which exon 1 of a novel gene designated WAMTP1 is linked to exons 2-5 of MAML2 [WAMPT1]", "evidence": [ { "database": "RefSeq", "id": "NP_001091952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952" }, { "database": "PubMed", "id": "14720503", "url": "https://glygen.org/publication/PubMed/14720503" } ] }, { "annotation": "Cutaneous Melanocytic Tumor With CRTC1::TRIM11 Translocation : An Emerging Entity Analyzed in a Series of 41 Cases.", "evidence": [ { "database": "RefSeq", "id": "NP_001091952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952" }, { "database": "PubMed", "id": "35993578", "url": "https://glygen.org/publication/PubMed/35993578" } ] }, { "annotation": "Establishment of Mucoepidermoid Carcinoma Cell Lines from Surgical and Recurrence Biopsy Specimens. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001091952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952" }, { "database": "PubMed", "id": "36675234", "url": "https://glygen.org/publication/PubMed/36675234" } ] }, { "annotation": "Oncogenic RAS commandeers amino acid sensing machinery to aberrantly activate mTORC1 in multiple myeloma. Erratum:[Nat Commun. 2022 Oct 3;13(1):5830. PMID: 36192480] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001091952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952" }, { "database": "PubMed", "id": "36115844", "url": "https://glygen.org/publication/PubMed/36115844" } ] }, { "annotation": "Salivary mucoepidermoid carcinoma: histological variants, grading systems, CRTC1/3-MAML2 fusions, and clinicopathological features.", "evidence": [ { "database": "RefSeq", "id": "NP_001091952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952" }, { "database": "PubMed", "id": "34657306", "url": "https://glygen.org/publication/PubMed/34657306" } ] }, { "annotation": "The CRTC1-MAML2 fusion is the major oncogenic driver in mucoepidermoid carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001091952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952" }, { "database": "PubMed", "id": "33830080", "url": "https://glygen.org/publication/PubMed/33830080" } ] }, { "annotation": "Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites. Acts as a coactivator, in the SIK/TORC signaling pathway, being active when dephosphorylated and acts independently of CREB1 'Ser-133' phosphorylation. Enhances the interaction of CREB1 with TAF4. Regulates the expression of specific CREB-activated genes such as the steroidogenic gene, StAR. Potent coactivator of PGC1alpha and inducer of mitochondrial biogenesis in muscle cells. In the hippocampus, involved in late-phase long-term potentiation (L-LTP) maintenance at the Schaffer collateral-CA1 synapses. May be required for dendritic growth of developing cortical neurons (By similarity). In concert with SIK1, regulates the light-induced entrainment of the circadian clock. In response to light stimulus, coactivates the CREB-mediated transcription of PER1 which plays an important role in the photic entrainment of the circadian clock.", "evidence": [ { "database": "UniProtKB", "id": "Q6UUV9", "url": "https://www.uniprot.org/uniprot/Q6UUV9#function" }, { "database": "UniProtKB", "id": "Q157S1", "url": "https://www.uniprot.org/uniprot/Q157S1#function" }, { "database": "UniProtKB", "id": "Q68ED7", "url": "https://www.uniprot.org/uniprot/Q68ED7#function" }, { "database": "PubMed", "id": "23699513", "url": "https://glygen.org/publication/PubMed/23699513" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "72.88", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "73.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "80.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "68.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "81.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "78.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "73.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "83.66", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "79.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000105662", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105662" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q6UUV9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6UUV9" } ], "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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"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", 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q6UUV9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6UUV9" } ], "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": "" }, { 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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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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": "Q6UUV9", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6UUV9" } ], "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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"MATSNNPRKFSEKIALHNQKQAEETAAFEEVMKDLSLTRAARLQLQKSQYLQLGPSRGQYYGGSLPNVNQIGSGTMDLPFQTPFQSSGLDTSRTTRHHGLVDRVYRERGRLGSPHRRPLSVDKHGRQADSCPYGTMYLSPPADTSWRRTNSDSALHQSTMTPTQPESFSSGSQDVHQKRVLLLTVPGMEETTSEADKNLSKQAWDTKKTGSRPKSCEVPGINIFPSADQENTTALIPATHNTGGSLPDLTNIHFPSPLPTPLDPEEPTFPALSSSSSTGNLAANLTHLGIGGAGQGMSTPGSSPQHRPAGVSPLSLSTEARRQQASPTLSPLSPITQAVAMDALSLEQQLPYAFFTQAGSQQPPPQPQPPPPPPPASQQPPPPPPPQAPVRLPPGGPLLPSASLTRGPQPPPLAVTVPSSLPQSPPENPGQPSMGIDIASAPALQQYRTSAGSPANQSPTSPVSNQGFSPGSSPQHTSTLGSVFGDAYYEQQMAARQANALSHQLEQFNMMENAISSSSLYSPGSTLNYSQAAMMGLTGSHGSLPDSQQLGYASHSGIPNIILTVTGESPPSLSKELTSSLAGVGDVSFDSDSQFPLDELKIDPLTLDGLHMLNDPDMVLADPATEDTFRMDRL", "length": 634, "header": "sp|Q6UUV9-1|CRTC1_HUMAN Isoform 1 of CREB-regulated transcription coactivator 1 OS=Homo sapiens OX=9606 GN=CRTC1 PE=1 SV=2 CANONICAL=Q6UUV9-1" }, "isoforms": [ { "isoform_ac": "M0QX46-1", "url": "", "sequence": { "sequence": "MLQLQKSQYLQLGPSRGQYYGGSLPNVNQIGSGTMDLPFQTPFQSSGLDTSRTTRHHGLVDRVYRERGRLGSPHRRPLSVDKHGRQADSCPYGTMYLSPPADTSWRRTNSDSALHQSTMTPTQPESFSSGSQDVHQKRVLLLTVPGMEETTSEADKNLSKQAWDTKKTGSRPKSCEVPGINIFPSADQENTTALIPATHNTGGSLPDLTNIHFPSPLPTPLDPEEPTFPALSSSSSTGNLAANLTHLGIGGAGQGMSTPGSSPQHRPAGVSPLSLSTEARRQQASPTLSPLSPITQAVAMDALSLEQQLPYAFFTQAGSQQPPPQPQPPPPPPPASQQPPPPPPPQAPVRLPPGGPLLPSASLTRGPQPPPLAVTVPSSLPQSPPENPGQPSMGIDIASAPALQQYRTSAGSPANQSPTSPVSNQGFSPGSSPQHTSTLGSVFGDAYYEQQMAARQANALSHQLEQFNMMENAISSSSLYSPGSTLNYSQAAMMGLTGSHGSLPDSQQLGYASHSGIPNIILTVTGESPPSLSKELTSSLAGVGDVSFDSDSQFPLDELKIDPLTLDGLHMLNDPDMVLADPATEDTFRMDRL", "length": 593, "header": "tr|M0QX46-1|M0QX46_HUMAN Computationally mapped isoform of CREB regulated transcription coactivator 1 OS=Homo sapiens OX=9606 GN=CRTC1 PE=1 SV=1 CANONICAL=Q6UUV9-1" }, "locus": { "chromosome": "19", "start_pos": 18777379, "end_pos": 18735641, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000594658.5", "url": "https://www.ensembl.org/id/ENST00000594658.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000468893.1", "url": "https://www.ensembl.org/id/ENSP00000468893.1" } ] } }, { "isoform_ac": "M0QXN6-1", "url": "", "sequence": { "sequence": "MDLPFQTPFQSSGLDTSRTTRHHGLVDRVYRERGRLGSPHRRPLSVDKHGRQADSCPYGTMYLSPPADTSWRRTNSDSALHQSTMTPTQPESFSSGSQDVHQKRVLLLTVPGMEETTSEADKNLSKQAWDTKKTGSRPKSCEVPGINIFPSADQENTTALIPATHNTGGSLPDLTNIHFPSPLPTPLDPEEPTFPALSSSSSTGNLAANLTHLGIGGAGQGMSTPGSSPQHRPAGVSPLSLSTEARRQQASPTLSPLSPITQLEQFNMMENAISSSSLYSPGSTLNYSQAAMMGLTGSHGSLPDSQQLGYASHSGIPNIILTVTGESPPSLSKELTSSLAGVGDVSFDSDSQFPLDELKIDPLTLDGLHMLNDPDMVLADPATEDTFRMDRL", "length": 392, "header": "tr|M0QXN6-1|M0QXN6_HUMAN Computationally mapped isoform of CREB regulated transcription coactivator 1 OS=Homo sapiens OX=9606 GN=CRTC1 PE=1 SV=1 CANONICAL=Q6UUV9-1" }, "locus": { "chromosome": "19", "start_pos": 18777379, "end_pos": 18743009, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000601916.1", "url": "https://www.ensembl.org/id/ENST00000601916.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000469285.1", "url": "https://www.ensembl.org/id/ENSP00000469285.1" } ] } }, { "isoform_ac": "Q6UUV9-1", "url": "", "sequence": { "sequence": "MATSNNPRKFSEKIALHNQKQAEETAAFEEVMKDLSLTRAARLQLQKSQYLQLGPSRGQYYGGSLPNVNQIGSGTMDLPFQTPFQSSGLDTSRTTRHHGLVDRVYRERGRLGSPHRRPLSVDKHGRQADSCPYGTMYLSPPADTSWRRTNSDSALHQSTMTPTQPESFSSGSQDVHQKRVLLLTVPGMEETTSEADKNLSKQAWDTKKTGSRPKSCEVPGINIFPSADQENTTALIPATHNTGGSLPDLTNIHFPSPLPTPLDPEEPTFPALSSSSSTGNLAANLTHLGIGGAGQGMSTPGSSPQHRPAGVSPLSLSTEARRQQASPTLSPLSPITQAVAMDALSLEQQLPYAFFTQAGSQQPPPQPQPPPPPPPASQQPPPPPPPQAPVRLPPGGPLLPSASLTRGPQPPPLAVTVPSSLPQSPPENPGQPSMGIDIASAPALQQYRTSAGSPANQSPTSPVSNQGFSPGSSPQHTSTLGSVFGDAYYEQQMAARQANALSHQLEQFNMMENAISSSSLYSPGSTLNYSQAAMMGLTGSHGSLPDSQQLGYASHSGIPNIILTVTGESPPSLSKELTSSLAGVGDVSFDSDSQFPLDELKIDPLTLDGLHMLNDPDMVLADPATEDTFRMDRL", "length": 634, "header": "sp|Q6UUV9-1|CRTC1_HUMAN Isoform 1 of CREB-regulated transcription coactivator 1 OS=Homo sapiens OX=9606 GN=CRTC1 PE=1 SV=2 CANONICAL=Q6UUV9-1" }, "locus": { "chromosome": "19", "start_pos": 18777379, "end_pos": 18683703, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000321949.13", "url": "https://www.ensembl.org/id/ENST00000321949.13" }, { "database": "Ensembl Peptide", "id": "ENSP00000323332.7", "url": "https://www.ensembl.org/id/ENSP00000323332.7" } ] } }, { "isoform_ac": "Q6UUV9-2", "url": "", "sequence": { "sequence": "MATSNNPRKFSEKIALHNQKQAEETAAFEEVMKDLSLTRAARLQLQKSQYLQLGPSRGQYYGGSLPNVNQIGSGTMDLPFQPSGFLGEALAAAPVSLTPFQSSGLDTSRTTRHHGLVDRVYRERGRLGSPHRRPLSVDKHGRQADSCPYGTMYLSPPADTSWRRTNSDSALHQSTMTPTQPESFSSGSQDVHQKRVLLLTVPGMEETTSEADKNLSKQAWDTKKTGSRPKSCEVPGINIFPSADQENTTALIPATHNTGGSLPDLTNIHFPSPLPTPLDPEEPTFPALSSSSSTGNLAANLTHLGIGGAGQGMSTPGSSPQHRPAGVSPLSLSTEARRQQASPTLSPLSPITQAVAMDALSLEQQLPYAFFTQAGSQQPPPQPQPPPPPPPASQQPPPPPPPQAPVRLPPGGPLLPSASLTRGPQPPPLAVTVPSSLPQSPPENPGQPSMGIDIASAPALQQYRTSAGSPANQSPTSPVSNQGFSPGSSPQHTSTLGSVFGDAYYEQQMAARQANALSHQLEQFNMMENAISSSSLYSPGSTLNYSQAAMMGLTGSHGSLPDSQQLGYASHSGIPNIILTVTGESPPSLSKELTSSLAGVGDVSFDSDSQFPLDELKIDPLTLDGLHMLNDPDMVLADPATEDTFRMDRL", "length": 650, "header": "sp|Q6UUV9-2|CRTC1_HUMAN Isoform 2 of CREB-regulated transcription coactivator 1 OS=Homo sapiens OX=9606 GN=CRTC1 PE=1 SV=2 CANONICAL=Q6UUV9-1" }, "locus": { "chromosome": "19", "start_pos": 18777379, "end_pos": 18683703, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000338797.10", "url": "https://www.ensembl.org/id/ENST00000338797.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000345001.5", "url": "https://www.ensembl.org/id/ENSP00000345001.5" } ] } }, { "isoform_ac": "Q6UUV9-3", "url": "", "sequence": { "sequence": "MATSNNPRKFSEKIALHNQKQAEETAAFEEVMKDLSLTRAARLQLQKSQYLQLGPSRGQYYGGSLPNVNQIGSGTMDLPFQTPFQSSGLDTSRTTRHHGLVDRVYRERGRLGSPHRRPLSVDKHGRQADSCPYGTMYLSPPADTSWRRTNSDSALHQSTMTPTQPESFSSGSQDVHQKRVLLLTVPGMEETTSEADKNLSKQAWDTKKTGSRPKSCEVPGINIFPSADQENTTALIPATHNTGGSLPDLTNIHFPSPLPTPLDPEEPTFPALSSSSSTGNLAANLTHLGIGGAGQGMSTPGSSPQHRPAGVSPLSLSTEARRQQASPTLSPLSPITQAVAMDALSLEQQLPYAFFTQAGSQQPPPQPQPPPPPPPASQQPPPPPPPQAPVRLPPGGPLLPSASLTRGPQPPPLAVTVPSSLPQSPPENPGQPSMGIDIASAPALQQYRTSAGSPANQSPTSPVSNQGFSPGSSPQLEQFNMMENAISSSSLYSPGSTLNYSQAAMMGLTGSHGSLPDSQQLGYASHSGIPNIILTVTGESPPSLSKELTSHRGHLPDGPPVSGHAGTLPLSRPDGASPARGRPCSVPRQRPSL", "length": 593, "header": "sp|Q6UUV9-3|CRTC1_HUMAN Isoform 3 of CREB-regulated transcription coactivator 1 OS=Homo sapiens OX=9606 GN=CRTC1 PE=1 SV=2 CANONICAL=Q6UUV9-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q6UUV9", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6UUV9" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [ { "start_pos": 113, "end_pos": 113, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6UUV9", "url": "https://www.uniprot.org/uniprot/Q6UUV9" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q6UUV9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6UUV9" } ], "site_lbl": "Ser113" }, { "start_pos": 149, "end_pos": 149, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q6UUV9", "url": "https://www.uniprot.org/uniprot/Q6UUV9" } ], "site_lbl": "Thr149" }, { "start_pos": 151, "end_pos": 151, "kinase_uniprot_canonical_ac": "P57059-1", "kinase_gene_name": "SIK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6UUV9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6UUV9" }, { "database": "PubMed", "id": "19244510", "url": "https://glygen.org/publication/PubMed/19244510" } ], "site_lbl": "Ser151" }, { "start_pos": 151, "end_pos": 151, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by SIK1 and SIK2", "evidence": [ { "database": "UniProtKB", "id": "Q6UUV9", "url": "https://www.uniprot.org/uniprot/Q6UUV9" }, { "database": "phospho.ELM", "id": "Q6UUV9", "url": "http://phospho.elm.eu.org/byAccession/Q6UUV9.html" }, { "database": "iPTMnet", "id": "Q6UUV9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6UUV9" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "26388727", "url": "https://glygen.org/publication/PubMed/26388727" }, { "database": "PubMed", "id": "16817901", "url": "https://glygen.org/publication/PubMed/16817901" } ], "site_lbl": "Ser151" }, { "start_pos": 153, "end_pos": 153, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6UUV9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6UUV9" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser153" }, { "start_pos": 161, "end_pos": 161, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "Q6UUV9", "url": "https://www.uniprot.org/uniprot/Q6UUV9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q6UUV9", "url": "http://phospho.elm.eu.org/byAccession/Q6UUV9.html" }, { "database": "iPTMnet", "id": "Q6UUV9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6UUV9" } ], "site_lbl": "Thr161" }, { "start_pos": 167, "end_pos": 167, "kinase_uniprot_canonical_ac": "P57059-1", "kinase_gene_name": "SIK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q6UUV9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6UUV9" }, { "database": "PubMed", "id": "16817901", "url": "https://glygen.org/publication/PubMed/16817901" } ], "site_lbl": "Ser167" }, { "start_pos": 172, "end_pos": 172, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q6UUV9", "url": "http://phospho.elm.eu.org/byAccession/Q6UUV9.html" }, { "database": "iPTMnet", "id": "Q6UUV9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6UUV9" }, { "database": "PubMed", "id": "17525332", "url": "https://glygen.org/publication/PubMed/17525332" } ], "site_lbl": "Ser172" }, { "start_pos": 61, "end_pos": 61, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q6UUV9", "url": "http://phospho.elm.eu.org/byAccession/Q6UUV9.html" }, { "database": "iPTMnet", "id": "Q6UUV9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6UUV9" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Tyr61" }, { "start_pos": 64, "end_pos": 64, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q6UUV9", "url": "https://www.uniprot.org/uniprot/Q6UUV9" } ], "site_lbl": "Ser64" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Molecular cloning and characterization of the human CLOCK gene: expression in the suprachiasmatic nuclei.", "journal": "Genomics", "date": "1999", "authors": "Steeves TD, King DP, Zhao Y, Sangoram AM, Du F, Bowcock AM, Moore RY, Takahashi JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "10198158", "url": "https://glygen.org/publication/PubMed/10198158" } ] }, { "title": "Kinetics of hemin distribution in plasma reveals its role in lipoprotein oxidation.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Miller YI, Shaklai N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707616" } ], "reference": [ { "type": "PubMed", "id": "10381560", "url": "https://glygen.org/publication/PubMed/10381560" } ] }, { "title": "Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1.", "journal": "Cell", "date": "1999", "authors": "Wu Z, Puigserver P, Andersson U, Zhang C, Adelmant G, Mootha V, Troy A, Cinti S, Lowell B, Scarpulla RC, Spiegelman BM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10412986", "url": "https://glygen.org/publication/PubMed/10412986" } ] }, { "title": "Light-independent role of CRY1 and CRY2 in the mammalian circadian clock.", "journal": "Science (New York, N.Y.)", "date": "1999", "authors": "Griffin EA Jr, Staknis D, Weitz CJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "10531061", "url": "https://glygen.org/publication/PubMed/10531061" } ] }, { "title": "Cloning and mRNA tissue distribution of human PPARgamma coactivator-1.", "journal": "International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity", "date": "1999", "authors": "Larrouy D, Vidal H, Andreelli F, Laville M, Langin D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10643692", "url": "https://glygen.org/publication/PubMed/10643692" } ] }, { "title": "A tissue-specific coactivator of steroid receptors, identified in a functional genetic screen.", "journal": "Molecular and cellular biology", "date": "2000", "authors": "Knutti D, Kaul A, Kralli A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "10713165", "url": "https://glygen.org/publication/PubMed/10713165" } ] }, { "title": "Phosphorylation and destabilization of human period I clock protein by human casein kinase I epsilon.", "journal": "Neuroreport", "date": "2000", "authors": "Keesler GA, Camacho F, Guo Y, Virshup D, Mondadori C, Yao Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "10790862", "url": "https://glygen.org/publication/PubMed/10790862" } ] }, { "title": "Human casein kinase Idelta phosphorylation of human circadian clock proteins period 1 and 2.", "journal": "FEBS letters", "date": "2001", "authors": "Camacho F, Cilio M, Guo Y, Virshup DM, Patel K, Khorkova O, Styren S, Morse B, Yao Z, Keesler GA", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "11165242", "url": "https://glygen.org/publication/PubMed/11165242" } ] }, { "title": "An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.", "journal": "Science (New York, N.Y.)", "date": "2001", "authors": "Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptacek LJ, Fu YH", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "11232563", "url": "https://glygen.org/publication/PubMed/11232563" } ] }, { "title": "Pgc-1-related coactivator, a novel, serum-inducible coactivator of nuclear respiratory factor 1-dependent transcription in mammalian cells.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Andersson U, Scarpulla RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "11340167", "url": "https://glygen.org/publication/PubMed/11340167" } ] }, { "title": "Heme mediates derepression of Maf recognition element through direct binding to transcription repressor Bach1.", "journal": "The EMBO journal", "date": "2001", "authors": "Ogawa K, Sun J, Taketani S, Nakajima O, Nishitani C, Sassa S, Hayashi N, Yamamoto M, Shibahara S, Fujita H, Igarashi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707616" } ], "reference": [ { "type": "PubMed", "id": "11387216", "url": "https://glygen.org/publication/PubMed/11387216" } ] }, { "title": "Regulation of clock and NPAS2 DNA binding by the 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McKnight C, Travers J, Klumpp-Thomas C, Smith GA, Pittaluga S, Maric I, Kazandjian D, Thomas CJ, Young RM", "evidence": [ { "database": "RefSeq", "id": "NP_001091952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952" } ], "reference": [ { "type": "PubMed", "id": "36115844", "url": "https://glygen.org/publication/PubMed/36115844" } ] }, { "title": "Establishment of Mucoepidermoid Carcinoma Cell Lines from Surgical and Recurrence Biopsy Specimens.", "journal": "International journal of molecular sciences", "date": "2023-01-15", "authors": "Yamanaka Shunpei, Suzuki Susumu, Ito Hideaki, Sivasundaram Karnan, Hanamura Ichiro, Okubo Ikuko, Yoshikawa Kazuhiro, Ono Shoya, Takahara Taishi, Satou Akira, Tsuzuki Toyonori, Ueda Ryuzo, Ogawa Tetsuya, Fujimoto Yasushi", "evidence": [ { "database": "RefSeq", "id": "NP_001091952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091952" } ], "reference": [ { "type": "PubMed", "id": "36675234", "url": "https://glygen.org/publication/PubMed/36675234" } ] }, { "title": "Structure, expression, and chromosomal assignment of the human gene encoding nuclear respiratory factor 1.", "journal": "The Journal of biological chemistry", "date": "1995", "authors": "Gopalakrishnan L, Scarpulla RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "7629110", "url": "https://glygen.org/publication/PubMed/7629110" } ] }, { "title": "Four structurally distinct, non-DNA-binding subunits of human nuclear respiratory factor 2 share a conserved transcriptional activation domain.", "journal": "Molecular and cellular biology", "date": "1995", "authors": "Gugneja S, Virbasius JV, Scarpulla RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-2151201", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2151201" } ], "reference": [ { "type": "PubMed", "id": "7799916", "url": 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Nath K, Eaton JW, Vercellotti GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707616" } ], "reference": [ { "type": "PubMed", "id": "8415693", "url": "https://glygen.org/publication/PubMed/8415693" } ] }, { "title": "A functional Rev-erb alpha responsive element located in the human Rev-erb alpha promoter mediates a repressing activity.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Adelmant G, Begue A, Stehelin D, Laudet V", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "8622974", "url": "https://glygen.org/publication/PubMed/8622974" } ] }, { "title": "Bach proteins belong to a novel family of BTB-basic leucine zipper transcription factors that interact with MafK and regulate transcription through the NF-E2 site.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Oyake T, Itoh K, Motohashi H, Hayashi N, Hoshino H, Nishizawa M, Yamamoto M, Igarashi K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707616", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707616" } ], "reference": [ { "type": "PubMed", "id": "8887638", "url": "https://glygen.org/publication/PubMed/8887638" } ] }, { "title": "Cloning, tissue expression, and mapping of a human photolyase homolog with similarity to plant blue-light receptors.", "journal": "Genomics", "date": "1996", "authors": "van der Spek PJ, Kobayashi K, Bootsma D, Takao M, Eker AP, Yasui A", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "8921389", "url": "https://glygen.org/publication/PubMed/8921389" } ] }, { "title": "Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Hogenesch JB, Chan WK, Jackiw VH, Brown RC, Gu YZ, Pray-Grant M, Perdew GH, Bradfield CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "9079689", "url": "https://glygen.org/publication/PubMed/9079689" } ] }, { "title": "cDNA cloning and tissue-specific expression of a novel basic helix-loop-helix/PAS protein (BMAL1) and identification of alternatively spliced variants with alternative translation initiation site usage.", "journal": "Biochemical and biophysical research communications", "date": "1997", "authors": "Ikeda M, Nomura M", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "9144434", "url": 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