{ "uniprot_canonical_ac": "Q8N1G2-1", "uniprot_ac": "Q8N1G2", "uniprot_id": "CMTR1_HUMAN", "mass": { "chemical_mass": 95321.0, "monoisotopic_mass": 95321.0 }, "refseq": { "ac": "NP_055865", "name": "cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" }, "gene_names": [ { "name": "CMTR1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8N1G2", "id": "Q8N1G2" }, { "name": "CMTR1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865", "id": "NP_055865" }, { "name": "FTSJD2; hMTr1; KIAA0082; MTr1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865", "id": "NP_055865" }, { "name": "FTSJD2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8N1G2", "id": "Q8N1G2" }, { "name": "KIAA0082", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8N1G2", "id": "Q8N1G2" }, { "name": "MTR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q8N1G2", "id": "Q8N1G2" } ], "protein_names": [ { "name": "Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8N1G2" }, { "name": "2.1.1.57", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N1G2" }, { "name": "Cap methyltransferase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N1G2" }, { "name": "Cap1 2'O-ribose methyltransferase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N1G2" }, { "name": "FtsJ methyltransferase domain-containing protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N1G2" }, { "name": "ISG95; S-adenosyl-L-methionine-dependent methyltransferase FTSJD2; cap1 2'O-ribose methyltransferase 1; interferon-stimulated gene 95 kDa protein; ftsJ methyltransferase domain-containing protein 2; FtsJ methyltransferase domain containing 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865", "id": "NP_055865" }, { "name": "ISG95", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N1G2" }, { "name": "Interferon-stimulated gene 95 kDa protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N1G2" }, { "name": "MTr1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N1G2" }, { "name": "cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865", "id": "NP_055865" }, { "name": "hMTr1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q8N1G2" } ], "function": [ { "annotation": "CMTR1 promotes colorectal cancer cell growth and immune evasion by transcriptionally regulating STAT3. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" }, { "database": "PubMed", "id": "37024465", "url": "https://glygen.org/publication/PubMed/37024465" } ] }, { "annotation": "CMTr1 binds ATP-dependent RNA DHX15 helicase and that this interaction, mediated by the G-patch domain of CMTr1, has an advantageous effect on CMTr1 activity towards highly structured RNA substrates. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" }, { "database": "PubMed", "id": "30397098", "url": "https://glygen.org/publication/PubMed/30397098" } ] }, { "annotation": "Crystal structures of the active CMTr1 catalytic domain in complex with a methyl group donor and a capped oligoribonucleotide are examined, thereby revealing the mechanism of specific recognition of capped RNA.", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" }, { "database": "PubMed", "id": "24402442", "url": "https://glygen.org/publication/PubMed/24402442" } ] }, { "annotation": "HMTr1 catalyzes specific methylation of the 2'-O-ribose of the first nucleotide of a capped RNA transcript.", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" }, { "database": "PubMed", "id": "20713356", "url": "https://glygen.org/publication/PubMed/20713356" } ] }, { "annotation": "Regulation and function of CMTR1-dependent mRNA cap methylation. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" }, { "database": "PubMed", "id": "28971629", "url": "https://glygen.org/publication/PubMed/28971629" } ] }, { "annotation": "S-adenosyl-L-methionine-dependent methyltransferase that mediates RNA cap1 2'-O-ribose methylation to the 5'-cap structure of RNAs. Methylates the ribose of the first nucleotide of a m(7)GpppG-capped mRNA to produce m(7)GpppNmp (cap1).", "evidence": [ { "database": "UniProtKB", "id": "Q5T7F5", "url": "https://www.uniprot.org/uniprot/Q5T7F5#function" }, { "database": "UniProtKB", "id": "RU368012", "url": "https://www.uniprot.org/uniprot/RU368012#function" }, { "database": "UniProtKB", "id": "H0YCQ1", "url": "https://www.uniprot.org/uniprot/H0YCQ1#function" }, { "database": "UniProtKB", "id": "H0Y4T0", "url": "https://www.uniprot.org/uniprot/H0Y4T0#function" } ] }, { "annotation": "S-adenosyl-L-methionine-dependent methyltransferase that mediates mRNA cap1 2'-O-ribose methylation to the 5'-cap structure of mRNAs. Methylates the ribose of the first nucleotide of a m(7)GpppG-capped mRNA and small nuclear RNA (snRNA) to produce m(7)GpppRm (cap1). Displays a preference for cap0 transcripts. Cap1 modification is linked to higher levels of translation. May be involved in the interferon response pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2#function" }, { "database": "PubMed", "id": "21310715", "url": "https://glygen.org/publication/PubMed/21310715" }, { "database": "PubMed", "id": "18533109", "url": "https://glygen.org/publication/PubMed/18533109" }, { "database": "PubMed", "id": "20713356", "url": "https://glygen.org/publication/PubMed/20713356" } ] }, { "annotation": "The data presented here are consistent with the important role played by hMTr1 in pre-mRNA synthesis.", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" }, { "database": "PubMed", "id": "30320910", "url": "https://glygen.org/publication/PubMed/30320910" } ] }, { "annotation": "The mRNA Cap 2'-O-Methyltransferase CMTR1 Regulates the Expression of Certain Interferon-Stimulated Genes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" }, { "database": "PubMed", "id": "32404510", "url": "https://glygen.org/publication/PubMed/32404510" } ] }, { "annotation": "The results presented in this work indicate that ISG95 is part of the interferon response pathway and functions in the pre-mRNA processing events mediated by the C-terminal domain of the RNA polymerase II.", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" }, { "database": "PubMed", "id": "18533109", "url": "https://glygen.org/publication/PubMed/18533109" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "Q8N1G2", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q8N1G2" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 236, "end_pos": 236, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "6", "chr_pos": "37453241", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A236", "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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": 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"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 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"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, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q8N1G2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N1G2" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that 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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q8N1G2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N1G2" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q8N1G2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q8N1G2" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": 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"MKRRTDPECTAPIKKQKKRVAELALSLSSTSDDEPPSSVSHGAKASTTSLSGSDSETEGKQHSSDSFDDAFKADSLVEGTSSRYSMYNSVSQKLMAKMGFREGEGLGKYSQGRKDIVEASSQKGRRGLGLTLRGFDQELNVDWRDEPEPSACEQVSWFPECTTEIPDTQEMSDWMVVGKRKMIIEDETEFCGEELLHSVLQCKSVFDVLDGEEMRRARTRANPYEMIRGVFFLNRAAMKMANMDFVFDRMFTNPRDSYGKPLVKDREAELLYFADVCAGPGGFSEYVLWRKKWHAKGFGMTLKGPNDFKLEDFYSASSELFEPYYGEGGIDGDGDITRPENISAFRNFVLDNTDRKGVHFLMADGGFSVEGQENLQEILSKQLLLCQFLMALSIVRTGGHFICKTFDLFTPFSVGLVYLLYCCFERVCLFKPITSRPANSERYVVCKGLKVGIDDVRDYLFAVNIKLNQLRNTDSDVNLVVPLEVIKGDHEFTDYMIRSNESHCSLQIKALAKIHAFVQDTTLSEPRQAEIRKECLRLWGIPDQARVAPSSSDPKSKFFELIQGTEIDIFSYKPTLLTSKTLEKIRPVFDYRCMVSGSEQKFLIGLGKSQIYTWDGRQSDRWIKLDLKTELPRDTLLSVEIVHELKGEGKAQRKISAIHILDVLVLNGTDVREQHFNQRIQLAEKFVKAVSKPSRPDMNPIRVKEVYRLEEMEKIFVRLEMKIIKGSSGTPKLSYTGRDDRHFVPMGLYIVRTVNEPWTMGFSKSFKKKFFYNKKTKDSTFDLPADSIAPFHICYYGRLFWEWGDGIRVHDSQKPQDQDKLSKEDVLSFIQMHRA", "length": 835, "header": "sp|Q8N1G2-1|CMTR1_HUMAN Isoform 1 of Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 OS=Homo sapiens OX=9606 GN=CMTR1 PE=1 SV=1 CANONICAL=Q8N1G2-1" }, "isoforms": [ { "isoform_ac": "H0Y4T0-1", "url": "", "sequence": { "sequence": "XGKAQRKISAIHILDVLVLNGTDVREQHFNQRIQLAEKFVKAVSKPSRPDMNPIRVKEVYRLEEMEKIFVRLEMKIIKGSSGTPKLSYTGRDDRHFVPMGLYIVRTVNEPWTMGFSKSFKKKFFYNKKTKDSTFDLPADSIAPFHLPSLACLSKMD", "length": 156, "header": "tr|H0Y4T0-1|H0Y4T0_HUMAN Computationally mapped isoform of Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 OS=Homo sapiens OX=9606 GN=CMTR1 PE=1 SV=1 CANONICAL=Q8N1G2-1" }, "locus": { "chromosome": "6", "start_pos": 37482526, "end_pos": 37475319, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457419.1", "url": "https://www.ensembl.org/id/ENST00000457419.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000393893.1", "url": "https://www.ensembl.org/id/ENSP00000393893.1" } ] } }, { "isoform_ac": "H0YCQ1-1", "url": "", "sequence": { "sequence": "XGSEQKFLIGLGKSQIYTWDGRQSDRWIKLDLKTELPRDTLLSVEIVHELKGEGKAQRKISAIHILDVLVLNGTDVREQHFNQRSDLGPRVGRVGVGQGSLGGQRPPEVWPLI", "length": 113, "header": "tr|H0YCQ1-1|CMTR1_HUMAN Computationally mapped isoform of Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 OS=Homo sapiens OX=9606 GN=CMTR1 PE=1 SV=1 CANONICAL=Q8N1G2-1" }, "locus": { "chromosome": "6", "start_pos": 37475502, "end_pos": 37473568, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475364.1", "url": "https://www.ensembl.org/id/ENST00000475364.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000432114.1", "url": "https://www.ensembl.org/id/ENSP00000432114.1" } ] } }, { "isoform_ac": "Q5T7F5-1", "url": "", "sequence": { "sequence": "MKRRTDPECTAPIKKQKKRVAELALSLSSTSDDEPPSSVSHGAKASTTSLSGSDSETEGKQHSSDSFDDAFKADSLVEGTSSRYSMYNSVSQKLMAKMGFREGEGLGKYSQGRKDIVEASSQKGRRGLGLTLRGFDQELNVDWRDEPEPSACEQVSWFPECTTEIPDTQEMSDWMVVGKRKMIIEDETEFCGEELLHSVLQCKKPLVKDREAELLYFADVCAGPGGFSEYVLWRKKWHAKGFGMTLKGPNDFKLEDFYSASSELFEPYYGEGGIDGDGDITRPENISAFRNFVLDNTDRKGVHFLMADGGFSVEGQENLQEILSKQLLLCQFLMALSIVRTGGHFICKTFDLFTPFSVGLVYLLYCCFERVC", "length": 372, "header": "tr|Q5T7F5-1|CMTR1_HUMAN Computationally mapped isoform of Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 OS=Homo sapiens OX=9606 GN=CMTR1 PE=1 SV=1 CANONICAL=Q8N1G2-1" }, "locus": { "chromosome": "6", "start_pos": 37462061, "end_pos": 37435630, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455891.5", "url": "https://www.ensembl.org/id/ENST00000455891.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000414233.1", "url": "https://www.ensembl.org/id/ENSP00000414233.1" } ] } }, { "isoform_ac": "Q8N1G2-1", "url": "", "sequence": { "sequence": "MKRRTDPECTAPIKKQKKRVAELALSLSSTSDDEPPSSVSHGAKASTTSLSGSDSETEGKQHSSDSFDDAFKADSLVEGTSSRYSMYNSVSQKLMAKMGFREGEGLGKYSQGRKDIVEASSQKGRRGLGLTLRGFDQELNVDWRDEPEPSACEQVSWFPECTTEIPDTQEMSDWMVVGKRKMIIEDETEFCGEELLHSVLQCKSVFDVLDGEEMRRARTRANPYEMIRGVFFLNRAAMKMANMDFVFDRMFTNPRDSYGKPLVKDREAELLYFADVCAGPGGFSEYVLWRKKWHAKGFGMTLKGPNDFKLEDFYSASSELFEPYYGEGGIDGDGDITRPENISAFRNFVLDNTDRKGVHFLMADGGFSVEGQENLQEILSKQLLLCQFLMALSIVRTGGHFICKTFDLFTPFSVGLVYLLYCCFERVCLFKPITSRPANSERYVVCKGLKVGIDDVRDYLFAVNIKLNQLRNTDSDVNLVVPLEVIKGDHEFTDYMIRSNESHCSLQIKALAKIHAFVQDTTLSEPRQAEIRKECLRLWGIPDQARVAPSSSDPKSKFFELIQGTEIDIFSYKPTLLTSKTLEKIRPVFDYRCMVSGSEQKFLIGLGKSQIYTWDGRQSDRWIKLDLKTELPRDTLLSVEIVHELKGEGKAQRKISAIHILDVLVLNGTDVREQHFNQRIQLAEKFVKAVSKPSRPDMNPIRVKEVYRLEEMEKIFVRLEMKIIKGSSGTPKLSYTGRDDRHFVPMGLYIVRTVNEPWTMGFSKSFKKKFFYNKKTKDSTFDLPADSIAPFHICYYGRLFWEWGDGIRVHDSQKPQDQDKLSKEDVLSFIQMHRA", "length": 835, "header": "sp|Q8N1G2-1|CMTR1_HUMAN Isoform 1 of Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 OS=Homo sapiens OX=9606 GN=CMTR1 PE=1 SV=1 CANONICAL=Q8N1G2-1" }, "locus": { "chromosome": "6", "start_pos": 37480142, "end_pos": 37435630, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373451.9", "url": "https://www.ensembl.org/id/ENST00000373451.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000362550.4", "url": "https://www.ensembl.org/id/ENSP00000362550.4" } ] } } ], "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": 5, "start_aa": "Thr", "end_pos": 5, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr5", "evidence": [ { "id": "Q8N1G2", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G2" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "Q8N1G2", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q8N1G2" } ] } ], "phosphorylation": [ { "start_pos": 224, "end_pos": 224, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "Q8N1G2", "url": "http://phospho.elm.eu.org/byAccession/Q8N1G2.html" } ], "site_lbl": "Tyr224" }, { "start_pos": 28, "end_pos": 28, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" }, { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q8N1G2", "url": "http://phospho.elm.eu.org/byAccession/Q8N1G2.html" } ], "site_lbl": "Ser28" }, { "start_pos": 30, "end_pos": 30, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q8N1G2", "url": "http://phospho.elm.eu.org/byAccession/Q8N1G2.html" } ], "site_lbl": "Thr30" }, { "start_pos": 31, "end_pos": 31, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" }, { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q8N1G2", "url": "http://phospho.elm.eu.org/byAccession/Q8N1G2.html" } ], "site_lbl": "Ser31" }, { "start_pos": 49, "end_pos": 49, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q8N1G2", "url": "http://phospho.elm.eu.org/byAccession/Q8N1G2.html" } ], "site_lbl": "Ser49" }, { "start_pos": 51, "end_pos": 51, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser51" }, { "start_pos": 53, "end_pos": 53, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q8N1G2", "url": "http://phospho.elm.eu.org/byAccession/Q8N1G2.html" } ], "site_lbl": "Ser53" }, { "start_pos": 550, "end_pos": 550, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser550" }, { "start_pos": 55, "end_pos": 55, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "Q8N1G2", "url": "http://phospho.elm.eu.org/byAccession/Q8N1G2.html" } ], "site_lbl": "Ser55" }, { "start_pos": 57, "end_pos": 57, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q8N1G2", "url": "http://phospho.elm.eu.org/byAccession/Q8N1G2.html" } ], "site_lbl": "Thr57" }, { "start_pos": 63, "end_pos": 63, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser63" }, { "start_pos": 64, "end_pos": 64, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "Q8N1G2", "url": "http://phospho.elm.eu.org/byAccession/Q8N1G2.html" } ], "site_lbl": "Ser64" }, { "start_pos": 66, "end_pos": 66, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser66" }, { "start_pos": 694, "end_pos": 694, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser694" }, { "start_pos": 91, "end_pos": 91, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" } ], "site_lbl": "Ser91" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Gene expression profiling of the cellular transcriptional network regulated by alpha/beta interferon and its partial attenuation by the hepatitis C virus nonstructural 5A protein.", "journal": "J. Virol.", "date": "2003", "authors": "He Y., Bumgarner R.E., Carter V.S., Fausto N., Geiss G.K., Katze M.G., Lazaro C.A., Holzman T., Korth M.J., Kwieciszewski B.K.", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "12743294", "url": "https://glygen.org/publication/PubMed/12743294" } ] }, { "title": "Cellular gene expression survey of vaccinia virus infection of human HeLa cells.", "journal": "J. Virol.", "date": "2003", "authors": "Harshman K., Munoz M., Esteban M., Guerra S., Lopez-Fernandez L.A., Pascual-Montano A.", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "12743306", "url": "https://glygen.org/publication/PubMed/12743306" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5T7F5", "url": "https://www.uniprot.org/uniprot/Q5T7F5" }, { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" }, { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "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": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "The human interferon-regulated ISG95 protein interacts with RNA polymerase II and shows methyltransferase activity.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2008", "authors": "Haline-Vaz T, Silva TC, Zanchin NI", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" }, { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" } ], "reference": [ { "type": "PubMed", "id": "18533109", "url": "https://glygen.org/publication/PubMed/18533109" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "Q5T7F5", "url": "https://www.uniprot.org/uniprot/Q5T7F5" }, { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "date": "2009", "authors": "Pan C, Olsen JV, Daub H, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "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": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Characterization of hMTr1, a human Cap1 2'-O-Ribose methyltransferase.", "journal": "J. Biol. Chem.", "date": "2010", "authors": "Belanger F, Stepinski J, Darzynkiewicz E, Pelletier J", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" }, { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" } ], "reference": [ { "type": "PubMed", "id": "20713356", "url": "https://glygen.org/publication/PubMed/20713356" } ] }, { "title": "2'-O-ribose methylation of cap2 in human: function and evolution in a horizontally mobile family.", "journal": "Nucleic Acids Res.", "date": "2011", "authors": "Werner M, Purta E, Kaminska KH, Cymerman IA, Campbell DA, Mittra B, Zamudio JR, Sturm NR, Jaworski J, Bujnicki JM", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "21310715", "url": "https://glygen.org/publication/PubMed/21310715" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" }, { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" }, { "database": "iPTMnet", "id": "Q8N1G2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Structural analysis of human 2'-O-ribose methyltransferases involved in mRNA cap structure formation.", "journal": "Nat. Commun.", "date": "2014", "authors": "Smietanski M, Werner M, Purta E, Kaminska KH, Stepinski J, Darzynkiewicz E, Nowotny M, Bujnicki JM", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" }, { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" } ], "reference": [ { "type": "PubMed", "id": "24402442", "url": "https://glygen.org/publication/PubMed/24402442" } ] }, { "title": "Regulation and function of CMTR1-dependent mRNA cap methylation.", "journal": "Wiley interdisciplinary reviews. RNA", "date": "2017", "authors": "Inesta-Vaquera F, Cowling VH", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" } ], "reference": [ { "type": "PubMed", "id": "28971629", "url": "https://glygen.org/publication/PubMed/28971629" } ] }, { "title": "Interactome analysis of the human Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 (hMTr1) protein.", "journal": "Journal of cellular biochemistry", "date": "2019", "authors": "Simabuco FM, Pavan ICB, Pestana NF, Carvalho PC, Basei FL, Campos Granato D, Paes Leme AF, Zanchin NIT", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" } ], "reference": [ { "type": "PubMed", "id": "30320910", "url": "https://glygen.org/publication/PubMed/30320910" } ] }, { "title": "Human RNA cap1 methyltransferase CMTr1 cooperates with RNA helicase DHX15 to modify RNAs with highly structured 5' termini.", "journal": "Philosophical transactions of the Royal Society of London. Series B, Biological sciences", "date": "2018", "authors": "Toczydlowska-Socha D, Zielinska MM, Kurkowska M, Astha, Almeida CF, Stefaniak F, Purta E, Bujnicki JM", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" } ], "reference": [ { "type": "PubMed", "id": "30397098", "url": "https://glygen.org/publication/PubMed/30397098" } ] }, { "title": "An Isotope-Coded Photocleavable Probe for Quantitative Profiling of Protein O-GlcNAcylation.", "journal": "ACS chemical biology", "date": "2019", "authors": "Li J, Li Z, Duan X, Qin K, Dang L, Sun S, Cai L, Hsieh-Wilson LC, Wu L, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G2" }, { "database": "O-GlcNAc Atlas", "id": "Q8N1G2", "url": "https://oglcnac.org/atlas/detail/Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "30620550", "url": "https://glygen.org/publication/PubMed/30620550" } ] }, { "title": "The mRNA Cap 2'-O-Methyltransferase CMTR1 Regulates the Expression of Certain Interferon-Stimulated Genes.", "journal": "mSphere", "date": "2020", "authors": "Williams GD, Gokhale NS, Snider DL, Horner SM", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" } ], "reference": [ { "type": "PubMed", "id": "32404510", "url": "https://glygen.org/publication/PubMed/32404510" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q8N1G2", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q8N1G2" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "CMTR1 promotes colorectal cancer cell growth and immune evasion by transcriptionally regulating STAT3.", "journal": "Cell death & disease", "date": "2023-04-06", "authors": "You A-Bin, Yang Hu, Lai Chun-Ping, Lei Wen, Yang Lu, Lin Jia-Lin, Liu Shun-Cui, Ding Nan, Ye Feng", "evidence": [ { "database": "RefSeq", "id": "NP_055865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055865" } ], "reference": [ { "type": "PubMed", "id": "37024465", "url": "https://glygen.org/publication/PubMed/37024465" } ] } ], "pathway": [ { "id": "hsa:23070", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23070", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q5U2Z5-1", "protein_name": "Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1", "gene_name": "Cmtr1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKRRTDPECTAPLKKQKRIGELARHLSSTSDDEPLSSVSHAAKASTTSLSGSDSETEGKQPCSDGFKDAFKADSLVEGTSSRYSMYNSVSQKLMAKMGFREGEGLGKYSQGRKDIVETSNQKGRRGLGLTLQGFDQELNVDWRDEPEPNACEQVSWFPECTTEIPDSREMSDWMVVGKRKMVIEDETEFCGEELLHSMLKCKSVFDILDGEEMRRARTRANPYEMIRGVFFLNRAAMKMANMDFVFDRMFTNPLDSSGKPLLKESDIDLLYFADVCAGPGGFSEYVLWRRKWHAKGFGMTLKGPNDFKLEDFYSASSELFEPYYGEGGVDGDGDITRPENINAFRNFVLDNTDRKGVHFVMADGGFSVEGQENLQEILSKQLLLCQFLMALSVVRTGGHFVCKTFDLFTPFSVGLIYLLYCCFERVCLFKPVTSRPANSERYVVCKGLKVGIDDVREYLFSVNIQLNQLRNTDSDVNLVVPLSVIKGDHEFNDYMIRSNESYCSLQIKALAKIHAFVQDTTLSEPRQAEIRKECLQLWEIPDRARVAPSPSDPKFKFFELIKDTDINIFSYKPTLLTAKTLEKIRPVLEYRCMVSGSEQKFLLGLGKSQIYTWDGRQSDRWVKLDLKTELPRDTLLCVEIVHELKGEGKAQRKISAIHILDVLVLNGSDVREQHFNQRIQLAEKFVKAVSKPSRPDMNPIRVKEVYRLEEMEKIFVRLEMKLIKGSGGTPKLSYTGRDDRHFVPTGVYIVRTVTEPWTMAFSKGWKKKFFYNKKTGESFFTLPPESIAPFHTCYYTRLFWEWGDGFHMRDSQKPQDPDKLSKEDVLSFIQSHNPLGP", "length": 837 }, "evidence": [ { "id": "45232606", "url": "http://www.informatics.jax.org/homology/45232606", "database": "MGI" } ], "common_name": "Rat" }, { 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"MKRRTDPECTAPLKKQKRIGELARHLSSTSDDEPLSSVNHAAKASATSLSGSDSETEGKQPCSDDFKDAFKADSLVEGTSSRYSMYNSVSQRLMAKMGFREGEGLGKYSQGRKDIVETSNQKGRRGLGLTLQGFDQELNVDWRDEPEPNACEQVSWFPECTTEIPDSREMSDWMVVGKRKMVIEDETEFCGEELLHSMLKCKSVFDILDGEEMRRARTRANPYEMIRGVFFLNRAAMKMANMDFVFDRMFTNPLDSSGKPLLKESDIDLLYFADVCAGPGGFSEYVLWRKKWHAKGFGMTLKGPNDFKLEDFYSASSELFEPYYGEGGVDGDGDITRPENINAFRNFVLDNTDRKGVHFVMADGGFSVEGQENLQEILSKQLLLCQFLMALSVVRTGGHFVCKTFDLFTPFSVGLIYLLYCCFERVCLFKPITSRPANSERYVVCKGLKVGIDDVREYLFSVNIKLNQLRNTESDVNLVVPLMVIKGDHEFNDYMIRSNESYCSLQIKALAKIHAFVQDTTLSEPRQAEIRKECLQLWKIPDQARVAPSSSDPKFKFFELIKDTDINIFSYKPTLLTAKTLEKIRPVLEYRCMVSGSEQKFLLGLGKSQIYTWDGRQSDRWVKLDLKTELPRDTLLCVEIVHELKGEGKAQRKISAIHILDVLVLNGSDVREQHFNQRIQLAEKFVKAVSKPSRPDMNPIRVKEVYRLEEMEKIFVRLEMKLIKGSGGTPKLSYTGRDDRHFVPTGVYIVRTVNEPWTMGFSKSNNRKFFYNKKTQKSVYALPTESIAPFHTCYYSRLFWEWGDGFHMRDSQKPQDPDKLSKEDVLSFIQSHNPLGP", "length": 837 }, "evidence": [ { "id": "45232606", "url": "http://www.informatics.jax.org/homology/45232606", "database": "MGI" }, { "id": "Q8N1G2", "url": "https://omabrowser.org/oma/group/Q8N1G2/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9W4N2-1", "protein_name": "Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1", "gene_name": "Cmtr1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MDEPSDDENSEPTPKKIKREWVKSYSNKAMEMMKKMGYENDKGLGKSNQGRLEPIIAVQQDGRRGFGLKLDTVQSSAGQWDPACEELEIPEPVLWLHNPGSRADAYSLDQLMGHLVTGEKKLTLDGETRYCDPAILHHILNAKTVFDDLNDNEKRRARSRCNPFETIRSSIFLNRAAVKMANIDSMCNFMFTNPRDPAGQTLVAPDELLYFTDMCAGPGGFSEYVLYRKSWEAKGFGFTLRGANDFKLEKFFAASPESFDTFYGVKEDGNIFDESNQDSLNEYIRMHTPQGVHFAMADGGFSVEGQKNIQEILSKQLYLCQFLTALKILRPNGSFVCKVFDLFTPFSVGLVYLMYKCFQQIAIIKPNSSRPANSERYLVCKYKRSDAETAGIVAYLNTVNLMLSDESQLDENDVLEIFNANELAEDEDFLRYIIDSNNAIGKKQIVGLRKIAAFAQNLELKETKQSEVRQECLKRWGLPDKLRQAPENKPTDRLLDELLADWANERSWLSLPATEMKGVASLNATIKNVADWYFVPVGREETNINACSLFLCKSRGNLLRYTEHKKWELVETAFEVQPRSIFFGQIVYEFYGEGRTIQRMAALHIIDGICLGGVDIRRRPYRERVSMCDKFARSLNKPYRKDRTFGALRSKPLFRLQDMGSFFANMRHYVLKDNSQRLGFALDDNKFFVPGGIMMFCELTNNYVSAHSRSRGQLYYFNVRNKESYYKDQIPRNKADEIFASFRFSFSCRLLWKWTDLRQVEELATEDNPKILFRSDFVKFIADKLGHS", "length": 788 }, "evidence": [ { "id": "Q8N1G2", "url": "https://omabrowser.org/oma/group/Q8N1G2/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "mRNA (nucleoside-2'-O-)-methyltransferase activity", "id": "GO:0004483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004483", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "cap1 mRNA methylation", "id": "GO:0097309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097309", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "pmid": "" }, { "name": "7-methylguanosine mRNA capping", "id": "GO:0006370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006370", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "pmid": "" }, { "name": "mRNA methylation", "id": "GO:0080009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080009", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "Q8N1G2", "url": "https://www.uniprot.org/uniprot/Q8N1G2" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 341, "end_pos": 343, "annotation": "n_glycosylation_sequon" }, { "start_pos": 500, "end_pos": 502, "annotation": "n_glycosylation_sequon" }, { "start_pos": 667, "end_pos": 669, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "67020", "name": "", "equation": "a 5'-end (N(7)-methyl 5'-triphosphoguanosine)-ribonucleoside in mRNA + S-adenosyl-L-methionine = a 5'-end (N(7)-methyl 5'-triphosphoguanosine)-(2'-O-methyl-ribonucleoside) in mRNA + H(+) + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5U2Z5-1", "Q8N1G2-1", "Q9DBC3-1", "Q55B62-1", "Q54WR1-1", "Q9W4N2-1" ], "evidence": [ { "id": "67020", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/67020" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "Q54WR1", "gene_name": "", "activity": [ { "ec_number": "2.1.1.57", "activity": "a 5'-end (N(7)-methyl 5'-triphosphoguanosine)-ribonucleoside in mRNA + S-adenosyl-L-methionine = a 5'-end (N(7)-methyl 5'-triphosphoguanosine)-(2'-O-methyl-ribonucleoside) in mRNA + H(+) + S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q54WR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54WR1" } ] }, { "ec_number": "2.1.1.57", "activity": "", "evidence": [ { "id": "Q54WR1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54WR1" } ] } ] }, { "uniprot_ac": "Q55B62", "gene_name": "", "activity": [ { "ec_number": "2.1.1.57", "activity": "a 5'-end (N(7)-methyl 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