{ "uniprot_canonical_ac": "P08621-1", "uniprot_ac": "P08621", "uniprot_id": "RU17_HUMAN", "mass": { "chemical_mass": 51557.0, "monoisotopic_mass": 51557.0 }, "refseq": { "ac": "NP_001287998", "name": "U1 small nuclear ribonucleoprotein 70 kDa isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287998" }, "gene_names": [ { "name": "SNRNP70", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08621", "id": "P08621" }, { "name": "RNPU1Z; RPU1; Snp1; SNRP70; U1-70K; U170K; U1AP; U1RNP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287998", "id": "NP_001287998" }, { "name": "RNPU1Z", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08621", "id": "P08621" }, { "name": "RPU1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08621", "id": "P08621" }, { "name": "SNRNP70", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287998", "id": "NP_001287998" }, { "name": "SNRP70", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08621", "id": "P08621" }, { "name": "U1AP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08621", "id": "P08621" } ], "protein_names": [ { "name": "U1 small nuclear ribonucleoprotein 70 kDa", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08621" }, { "name": "U1 small nuclear ribonucleoprotein 70 kDa isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287998", "id": "NP_001287998" }, { "name": "U1 small nuclear ribonucleoprotein 70 kDa; U1 snRNP 70 kDa; small nuclear ribonucleoprotein 70kDa (U1); small nuclear ribonucleoprotein, U1 70kDa subunit", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287998", "id": "NP_001287998" }, { "name": "U1 snRNP 70 kDa", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08621" }, { "name": "U1-70K", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08621" }, { "name": "snRNP70", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08621" } ], "function": [ { "annotation": "A specific gene-splicing alteration in the SNRNP70 gene as a hallmark of an ALS subtype.", "evidence": [ { "database": "RefSeq", "id": "NP_001287998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287998" }, { "database": "PubMed", "id": "35101583", "url": "https://glygen.org/publication/PubMed/35101583" } ] }, { "annotation": "CLK1 reorganizes the splicing factor U1-70K for early spliceosomal protein assembly.", "evidence": [ { "database": "RefSeq", "id": "NP_001287998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287998" }, { "database": "PubMed", "id": "33811140", "url": "https://glygen.org/publication/PubMed/33811140" } ] }, { "annotation": "Component of the spliceosomal U1 snRNP, which is essential for recognition of the pre-mRNA 5' splice-site and the subsequent assembly of the spliceosome (PubMed:19325628, PubMed:25555158). SNRNP70 binds to the loop I region of U1-snRNA (PubMed:2467746, PubMed:19325628, PubMed:25555158).", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621#function" }, { "database": "PubMed", "id": "19325628", "url": "https://glygen.org/publication/PubMed/19325628" }, { "database": "PubMed", "id": "25555158", "url": "https://glygen.org/publication/PubMed/25555158" }, { "database": "PubMed", "id": "2467746", "url": "https://glygen.org/publication/PubMed/2467746" } ] }, { "annotation": "Galectin-3-U1 snRNP Complexes Initiate Splicing Activity in U1-Depleted Nuclear Extracts.", "evidence": [ { "database": "RefSeq", "id": "NP_001287998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287998" }, { "database": "PubMed", "id": "35320554", "url": "https://glygen.org/publication/PubMed/35320554" } ] }, { "annotation": "Truncated isoforms that lack the RRM domain cannot bind U1-snRNA.", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621#function" }, { "database": "PubMed", "id": "2467746", "url": "https://glygen.org/publication/PubMed/2467746" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1260879161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1260879161" }, { "id": "rs1260879161", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1260879161" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 138, "end_pos": 138, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KRS->NRS).", "chr_id": "19", "chr_pos": "49101410", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K138", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs867473897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs867473897" }, { "id": "rs867473897", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs867473897" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 293, "end_pos": 293, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SRS->NRS).", "chr_id": "19", "chr_pos": "49108007", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S293", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "93.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "85.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "93.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "89.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "98.47", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "89.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "96.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "98.4", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000104852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000104852" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P08621", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08621" } ], "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, 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}, { "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", 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"MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P08621", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08621" } ], "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", 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"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", 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"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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P08621", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08621" } ], "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 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"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 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08621" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"categories": [ "Protein" ] }, { "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08621-1", "url": "https://www.uniprot.org/uniprot/P08621-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08621-2", "url": "https://www.uniprot.org/uniprot/P08621-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08621-3", "url": "https://www.uniprot.org/uniprot/P08621-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P08621-4", "url": "https://www.uniprot.org/uniprot/P08621-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTQFLPPNLLALFAPRDPIPYLPPLEKLPHEKHHNQPYCGIAPYIREFEDPRDAPPPTRAETREERMERKRREKIERRQQEVETELKMWDPHNDPNAQGDAFKTLFVARVNYDTTESKLRREFEVYGPIKRIHMVYSKRSGKPRGYAFIEYEHERDMHSAYKHADGKKIDGRRVLVDVERGRTVKGWRPRRLGGGLGGTRRGGADVNIRHSGRDDTSRYDERPGPSPLPHRDRDRDRERERRERSRERDKERERRRSRSRDRRRRSRSRDKEERRRSRERSKDKDRDRKRRSSRSRERARRERERKEELRGGGGDMAEPSEAGDAPPDDGPPGELGPDGPDGPEEKGRDRDRERRRSHRSERERRRDRDRDRDRDREHKRGERGSERGRDEARGGGGGQDNGLEGLGNDSRDMYMESEGGDGYLAPENGYLMEAAPE", "length": 437, "header": "sp|P08621-1|RU17_HUMAN Isoform 1 of U1 small nuclear ribonucleoprotein 70 kDa OS=Homo sapiens OX=9606 GN=SNRNP70 PE=1 SV=2 CANONICAL=P08621-1" }, "isoforms": [ { "isoform_ac": "M0QX04-1", "url": "", "sequence": { "sequence": "MERKRREKIERRQQEVETELKMWDPHNDPNAQG", "length": 33, "header": "tr|M0QX04-1|RU17_HUMAN Computationally mapped isoform of U1 small nuclear ribonucleoprotein 70 kDa OS=Homo sapiens OX=9606 GN=SNRNP70 PE=1 SV=1 CANONICAL=P08621-1" }, "locus": { "chromosome": "19", "start_pos": 49098458, "end_pos": 49090342, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000601411.1", "url": "https://www.ensembl.org/id/ENST00000601411.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000468828.1", "url": "https://www.ensembl.org/id/ENSP00000468828.1" } ] } }, { "isoform_ac": "M0QYR1-1", "url": "", "sequence": { "sequence": "MERKRREKIERRQQEVETELKMWDPHNDPNAQGDAFKTLFVARVNYDTTESKLRREFEVYGPIKRIHMVYSKRSGKPRGYAFIEYEHERDMHST", "length": 94, "header": "tr|M0QYR1-1|M0QYR1_HUMAN Computationally mapped isoform of Small nuclear ribonucleoprotein U1 subunit 70 OS=Homo sapiens OX=9606 GN=SNRNP70 PE=1 SV=1 CANONICAL=P08621-1" }, "locus": { "chromosome": "19", "start_pos": 49102118, "end_pos": 49090342, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000598984.5", "url": "https://www.ensembl.org/id/ENST00000598984.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470023.1", "url": "https://www.ensembl.org/id/ENSP00000470023.1" } ] } }, { "isoform_ac": "P08621-1", "url": "", "sequence": { "sequence": "MTQFLPPNLLALFAPRDPIPYLPPLEKLPHEKHHNQPYCGIAPYIREFEDPRDAPPPTRAETREERMERKRREKIERRQQEVETELKMWDPHNDPNAQGDAFKTLFVARVNYDTTESKLRREFEVYGPIKRIHMVYSKRSGKPRGYAFIEYEHERDMHSAYKHADGKKIDGRRVLVDVERGRTVKGWRPRRLGGGLGGTRRGGADVNIRHSGRDDTSRYDERPGPSPLPHRDRDRDRERERRERSRERDKERERRRSRSRDRRRRSRSRDKEERRRSRERSKDKDRDRKRRSSRSRERARRERERKEELRGGGGDMAEPSEAGDAPPDDGPPGELGPDGPDGPEEKGRDRDRERRRSHRSERERRRDRDRDRDRDREHKRGERGSERGRDEARGGGGGQDNGLEGLGNDSRDMYMESEGGDGYLAPENGYLMEAAPE", "length": 437, "header": "sp|P08621-1|RU17_HUMAN Isoform 1 of U1 small nuclear ribonucleoprotein 70 kDa OS=Homo sapiens OX=9606 GN=SNRNP70 PE=1 SV=2 CANONICAL=P08621-1" }, "locus": { "chromosome": "19", "start_pos": 49108440, "end_pos": 49086415, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000598441.6", "url": "https://www.ensembl.org/id/ENST00000598441.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000472998.1", "url": "https://www.ensembl.org/id/ENSP00000472998.1" } ] } }, { "isoform_ac": "P08621-2", "url": "", "sequence": { "sequence": "MTQFLPPNLLALFAPRDPIPYLPPLEKLPHEKHHNQPYCGIAPYIREFEDPRDAPPPTRAETREERMERKRREKIERRQQEVETELKMWDPHNDPNAQGDAFKTLFVARVNYDTTESKLRREFEVYGPIKRIHMVYSKRSGKPRGYAFIEYEHERDMHSAYKHADGKKIDGRRVLVDVERGRTVKGWRPRRLGGGLGGTRRGGADVNIRHSGRDDTSRYDERDRDRDRERERRERSRERDKERERRRSRSRDRRRRSRSRDKEERRRSRERSKDKDRDRKRRSSRSRERARRERERKEELRGGGGDMAEPSEAGDAPPDDGPPGELGPDGPDGPEEKGRDRDRERRRSHRSERERRRDRDRDRDRDREHKRGERGSERGRDEARGGGGGQDNGLEGLGNDSRDMYMESEGGDGYLAPENGYLMEAAPE", "length": 428, "header": "sp|P08621-2|RU17_HUMAN Isoform 2 of U1 small nuclear ribonucleoprotein 70 kDa OS=Homo sapiens OX=9606 GN=SNRNP70 PE=1 SV=2 CANONICAL=P08621-1" }, "locus": { "chromosome": "19", "start_pos": 49108440, "end_pos": 49086415, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000221448.9", "url": "https://www.ensembl.org/id/ENST00000221448.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000221448.5", "url": "https://www.ensembl.org/id/ENSP00000221448.5" } ] } }, { "isoform_ac": "P08621-3", "url": "", "sequence": { "sequence": "MTQFLPPNLLALFAPRDPIPYLPPLEKLPHEKHHNQPYCGIAPYIREFEDPRDAPPPTRAETREERMERKRREKIERRQQEVETELKMWDPHNDPNAQGDAFKTLFVARVNYDTTESKLRREFEVYGPIKRIHMVYSKRSGKPRGYAFIEYEHERDMHSTTQLACS", "length": 166, "header": "sp|P08621-3|RU17_HUMAN Isoform 3 of U1 small nuclear ribonucleoprotein 70 kDa OS=Homo sapiens OX=9606 GN=SNRNP70 PE=1 SV=2 CANONICAL=P08621-1" }, "locus": { "chromosome": "19", "start_pos": 49102136, "end_pos": 49086415, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000401730.5", "url": "https://www.ensembl.org/id/ENST00000401730.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000385077.1", "url": "https://www.ensembl.org/id/ENSP00000385077.1" } ] } }, { "isoform_ac": "P08621-4", "url": "", "sequence": { "sequence": "MEQALHRFGRGLVWLSVAWLSVGRVRVRDDGDTGRGFCRAGPVLTRGPSGDSSPLPLPTSVTAAYKHADGKKIDGRRVLVDVERGRTVKGWRPRRLGGGLGGTRRGGADVNIRHSGRDDTSRYDERPGPSPLPHRDRDRDRERERRERSRERDKERERRRSRSRDRRRRSRSRDKEERRRSRERSKDKDRDRKRRSSRSRERARRERERKEELRGGGGDMAEPSEAGDAPPDDGPPGELGPDGPDGPEEKGRDRDRERRRSHRSERERRRDRDRDRDRDREHKRGERGSERGRDEARGGGGGQDNGLEGLGNDSRDMYMESEGGDGYLAPENGYLMEAAPE", "length": 341, "header": "sp|P08621-4|RU17_HUMAN Isoform 4 of U1 small nuclear ribonucleoprotein 70 kDa OS=Homo sapiens OX=9606 GN=SNRNP70 PE=1 SV=2 CANONICAL=P08621-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 58, "start_aa": "Thr", "end_pos": 58, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr58", "evidence": [ { "id": "P08621", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P08621" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "P08621", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P08621" } ] } ], "phosphorylation": [ { "start_pos": 126, "end_pos": 126, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P08621", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08621" }, { "database": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" }, { "database": "phospho.ELM", "id": "P08621", "url": "http://phospho.elm.eu.org/byAccession/P08621.html" } ], "site_lbl": "Tyr126" }, { "start_pos": 137, "end_pos": 137, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08621", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08621" }, { "database": "PubMed", "id": "12548559", "url": "https://glygen.org/publication/PubMed/12548559" } ], "site_lbl": "Ser137" }, { "start_pos": 140, "end_pos": 140, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08621", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08621" }, { "database": "PubMed", "id": "12548559", "url": "https://glygen.org/publication/PubMed/12548559" }, { "database": "PubMed", "id": "18202700", "url": "https://glygen.org/publication/PubMed/18202700" }, { "database": "PubMed", "id": "19035498", "url": "https://glygen.org/publication/PubMed/19035498" } ], "site_lbl": "Ser140" }, { "start_pos": 226, "end_pos": 226, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" }, { "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": "19369195", "url": "https://glygen.org/publication/PubMed/19369195" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "P08621", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08621" }, { "database": "PubMed", "id": "17322306", "url": "https://glygen.org/publication/PubMed/17322306" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "18767875", "url": "https://glygen.org/publication/PubMed/18767875" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "20068230", "url": "https://glygen.org/publication/PubMed/20068230" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" }, { "database": "phospho.ELM", "id": "P08621", "url": "http://phospho.elm.eu.org/byAccession/P08621.html" } ], "site_lbl": "Ser226" }, { "start_pos": 266, "end_pos": 266, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08621", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08621" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "P08621", "url": "http://phospho.elm.eu.org/byAccession/P08621.html" } ], "site_lbl": "Ser266" }, { "start_pos": 268, "end_pos": 268, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "iPTMnet", "id": "P08621", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08621" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "P08621", "url": "http://phospho.elm.eu.org/byAccession/P08621.html" } ], "site_lbl": "Ser268" }, { "start_pos": 320, "end_pos": 320, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P08621", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08621" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "phospho.ELM", "id": "P08621", "url": "http://phospho.elm.eu.org/byAccession/P08621.html" } ], "site_lbl": "Ser320" }, { "start_pos": 357, "end_pos": 357, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08621", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08621" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser357" }, { "start_pos": 360, "end_pos": 360, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P08621", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08621" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser360" }, { "start_pos": 410, "end_pos": 410, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "16964243", "url": "https://glygen.org/publication/PubMed/16964243" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P08621", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08621" }, { "database": "PubMed", "id": "18212344", "url": "https://glygen.org/publication/PubMed/18212344" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "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": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "phospho.ELM", "id": "P08621", "url": "http://phospho.elm.eu.org/byAccession/P08621.html" } ], "site_lbl": "Ser410" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The SRm160/300 splicing coactivator is required for exon-enhancer function.", "journal": "Proc. Natl. Acad. Sci. 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{ "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": "P08621-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P08621-1" } ], "reference": [ { "type": "PubMed", "id": "18083107", "url": "https://glygen.org/publication/PubMed/18083107" } ] }, { "title": "Apoptosis-linked changes in the phosphorylation status and subcellular localization of the spliceosomal autoantigen U1-70K.", "journal": "Cell death and differentiation", "date": "2008", "authors": "Dieker J, Cisterna B, Monneaux F, Decossas M, van der Vlag J, Biggiogera M, Muller S", "evidence": [ { 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"PubMed", "id": "8332490", "url": "https://glygen.org/publication/PubMed/8332490" } ] }, { "title": "Evidence that sequence-independent binding of highly conserved U2 snRNP proteins upstream of the branch site is required for assembly of spliceosomal complex A.", "journal": "Genes & development", "date": "1996", "authors": "Gozani O, Feld R, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "8566756", "url": "https://glygen.org/publication/PubMed/8566756" } ] }, { "title": "A human RNA helicase-like protein, HRH1, facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome.", "journal": "Genes & development", "date": "1996", "authors": "Ohno M, Shimura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "8608946", "url": "https://glygen.org/publication/PubMed/8608946" } ] }, { "title": "Identification of an inhibitory element within the human 68-kDa (U1) ribonucleoprotein antigen.", "journal": "Protein Expr. Purif.", "date": "1995", "authors": "Northemann W, Berg H, Stahnke G, Walter M, Hunt N, Fenning S", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" } ], "reference": [ { "type": "PubMed", "id": "8746626", "url": "https://glygen.org/publication/PubMed/8746626" } ] }, { "title": "Association of U2 snRNP with the spliceosomal complex E.", "journal": "Nucleic acids research", "date": "1997", "authors": "Hong W, Bennett M, Xiao Y, Feld Kramer R, Wang C, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9016565", "url": "https://glygen.org/publication/PubMed/9016565" } ] }, { "title": "U2AF65 recruits a novel human DEAD box protein required for the U2 snRNP-branchpoint interaction.", "journal": "Genes & development", "date": "1997", "authors": "Fleckner J, Zhang M, Valcarcel J, Green MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9242493", "url": "https://glygen.org/publication/PubMed/9242493" } ] }, { "title": "Sip1, a novel RS domain-containing protein essential for pre-mRNA splicing.", "journal": "Mol. Cell. Biol.", "date": "1998", "authors": "Zhang W J, Wu J Y", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" } ], "reference": [ { "type": "PubMed", "id": "9447963", "url": "https://glygen.org/publication/PubMed/9447963" } ] }, { "title": "A cooperative interaction between U2AF65 and mBBP/SF1 facilitates branchpoint region recognition.", "journal": "Genes & development", "date": "1998", "authors": "Berglund JA, Abovich N, Rosbash M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9512519", "url": "https://glygen.org/publication/PubMed/9512519" } ] }, { "title": "Human homologs of yeast prp16 and prp17 reveal conservation of the mechanism for catalytic step II of pre-mRNA splicing.", "journal": "The EMBO journal", "date": "1998", "authors": "Zhou Z, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9524131", "url": "https://glygen.org/publication/PubMed/9524131" } ] }, { "title": "A coactivator of pre-mRNA splicing.", "journal": "Genes Dev.", "date": "1998", "authors": "Blencowe BJ, Issner R, Nickerson JA, Sharp PA", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" } ], "reference": [ { "type": "PubMed", "id": "9531537", "url": "https://glygen.org/publication/PubMed/9531537" } ] }, { "title": "The human U5-200kD DEXH-box protein unwinds U4/U6 RNA duplices in vitro.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Laggerbauer B, Achsel T, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9539711", "url": "https://glygen.org/publication/PubMed/9539711" } ] }, { "title": "A potential role for U2AF-SAP 155 interactions in recruiting U2 snRNP to the branch site.", "journal": "Molecular and cellular biology", "date": "1998", "authors": "Gozani O, Potashkin J, Reed R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9671485", "url": "https://glygen.org/publication/PubMed/9671485" } ] }, { "title": "The mammalian homologue of Prp16p is overexpressed in a cell line tolerant to Leflunomide, a new immunoregulatory drug effective against rheumatoid arthritis.", "journal": "RNA (New York, N.Y.)", "date": "1998", "authors": "Ortlepp D, Laggerbauer B, Mullner S, Achsel T, Kirschbaum B, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9701291", "url": "https://glygen.org/publication/PubMed/9701291" } ] }, { "title": "Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex.", "journal": "Nature genetics", "date": "1998", "authors": "Neubauer G, King A, Rappsilber J, Calvio C, Watson M, Ajuh P, Sleeman J, Lamond A, Mann M", "evidence": [ { "database": "Reactome", "id": "R-HSA-72163", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163" } ], "reference": [ { "type": "PubMed", "id": "9731529", "url": "https://glygen.org/publication/PubMed/9731529" } ] } ], "pathway": [ { "id": "hsa:6625", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6625", "resource": "KEGG Pathway" }, { "id": "R-HSA-72163", "name": "mRNA Splicing - Major Pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-72163", "resource": "Reactome", "description": "mRNA Splicing - Major Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6G5W4-1", 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"database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "U1 snRNP", "id": "GO:0005685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005685", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P08621", "url": "https://www.uniprot.org/uniprot/P08621" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P08621", 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