{ "uniprot_canonical_ac": "O43159-1", "uniprot_ac": "O43159", "uniprot_id": "RRP8_HUMAN", "mass": { "chemical_mass": 50715.0, "monoisotopic_mass": 50715.0 }, "refseq": { "ac": "NP_056139", "name": "ribosomal RNA-processing protein 8", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056139" }, "gene_names": [ { "name": "RRP8", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43159", "id": "O43159" }, { "name": "KIAA0409; NML", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056139", "id": "NP_056139" }, { "name": "KIAA0409", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43159", "id": "O43159" }, { "name": "NML", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43159", "id": "O43159" }, { "name": "RRP8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056139", "id": "NP_056139" }, { "name": "hucep-1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43159", "id": "O43159" } ], "protein_names": [ { "name": "Ribosomal RNA-processing protein 8", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43159" }, { "name": "2.1.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43159" }, { "name": "Cerebral protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43159" }, { "name": "Nucleomethylin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43159" }, { "name": "RRP8 methyltransferase homolog; nucleomethylin; cerebral protein 1; ribosomal RNA processing 8, methyltransferase, homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056139", "id": "NP_056139" }, { "name": "ribosomal RNA-processing protein 8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056139", "id": "NP_056139" } ], "function": [ { "annotation": "Among Systemic lupus erythematosus patients, 63.6% and 45.5% of those with lupus nephritis were positive for anti-RRP8 and anti-TNP1 antibodies, compared with 12.5% and 9.4% of Systemic lupus erythematosus patients without nephritis, respectively. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056139" }, { "database": "PubMed", "id": "26098692", "url": "https://glygen.org/publication/PubMed/26098692" } ] }, { "annotation": "Breast tumors without detectable nucleolar NML expression had poor survival.", "evidence": [ { "database": "RefSeq", "id": "NP_056139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056139" }, { "database": "PubMed", "id": "26505814", "url": "https://glygen.org/publication/PubMed/26505814" } ] }, { "annotation": "Data indicate that the the nucleomethylin (NML)-SirT1 interaction was competitively inhibited by rRNA.", "evidence": [ { "database": "RefSeq", "id": "NP_056139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056139" }, { "database": "PubMed", "id": "23897426", "url": "https://glygen.org/publication/PubMed/23897426" } ] }, { "annotation": "Essential component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes. The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus. In the complex, RRP8 binds to H3K9me2 and probably acts as a methyltransferase. Its substrates are however unknown.", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159#function" }, { "database": "PubMed", "id": "18485871", "url": "https://glygen.org/publication/PubMed/18485871" }, { "database": "UniProtKB", "id": "E9PPY3", "url": "https://www.uniprot.org/uniprot/E9PPY3#function" }, { "database": "UniProtKB", "id": "RU365074", "url": "https://www.uniprot.org/uniprot/RU365074#function" }, { "database": "UniProtKB", "id": "E9PPP6", "url": "https://www.uniprot.org/uniprot/E9PPP6#function" } ] }, { "annotation": "NML depletion increases 60S ribosomal protein L11 (RPL11) levels in the ribosome-free fraction and protein levels of p53 through an RPL11-MDM2 complex, which activates the p53 pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_056139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056139" }, { "database": "PubMed", "id": "27149924", "url": "https://glygen.org/publication/PubMed/27149924" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1366320434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1366320434" }, { "id": "rs1366320434", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1366320434#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 126, "end_pos": 126, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "11", "chr_pos": "6601938", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S126", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs11040934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11040934" }, { "id": "rs11040934", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs11040934" }, { "id": "rs11040934", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs11040934" }, { "id": "rs11040934", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs11040934#frequency_tab" }, { "id": "rs11040934", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs11040934" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 145, "end_pos": 145, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "11", "chr_pos": "6601882", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "0.02376", "site_lbl": "A145", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1452181550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1452181550" }, { "id": "rs1452181550", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1452181550" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 167, "end_pos": 167, "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDP->NDT).", "chr_id": "11", "chr_pos": "6601567", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P167", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs145989544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145989544" }, { "id": "rs145989544", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs145989544" }, { "id": "rs145989544", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs145989544" }, { "id": "rs145989544", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs145989544#frequency_tab" }, { "id": "rs145989544", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs145989544" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 174, "end_pos": 174, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "11", "chr_pos": "6601545", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.000599", "site_lbl": "S174", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs974485281", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs974485281" }, { "id": "rs974485281", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs974485281#frequency_tab" }, { "id": "23301059", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301059" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 223, "end_pos": 223, "sequence_org": "S", "sequence_mut": "P", "comment": "Somatic mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "11", "chr_pos": "6601399", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S223", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs749009697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749009697" }, { "id": "rs749009697", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749009697" }, { "id": "rs749009697", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs749009697#frequency_tab" }, { "id": "rs749009697", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749009697" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 34, "end_pos": 34, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKG->NKS).", "chr_id": "11", "chr_pos": "6602215", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G34", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1314352729", "database": "dbSNP", "url": 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"o-glyco-site-loss" ], "start_pos": 78, "end_pos": 78, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KAS->NAS).", "chr_id": "11", "chr_pos": "6602081", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K78", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132275" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "66.06", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000132275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132275" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "78.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132275" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000132275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132275" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "89.09", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000132275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132275" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": 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"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": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43159", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43159" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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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": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43159", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43159" } ], "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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"id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43159", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43159" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43159", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43159" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "common_name": "Human" } ], "gene": [ { "name": "RRP8", "url": "https://www.uniprot.org/uniprot/O43159", "locus": { "chromosome": "11", "start_pos": 6595072, "end_pos": 6603616, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000132275", "url": "https://www.ensembl.org/id/ENSG00000132275" } ] } } ], "crossref": [ { "id": "ENSG00000132275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000132275", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "2.1.1.B128", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.1.1.B128&UniProtAcc=O43159", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "cd02440", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02440", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "RRP8", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=RRP8", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "23378", "url": "https://www.ncbi.nlm.nih.gov/gene/23378", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29030", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29030", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43159", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43159*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR007823", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007823", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023576", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023576", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR029063", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029063", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042036", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042036", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23378", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23378", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "615818", "url": "http://www.omim.org/entry/615818", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43159", "url": "https://www.nextprot.org/entry/NX_O43159", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43159", "url": "https://oglcnac.org/atlas/detail/O43159", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O43159", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43159", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "QNQVKKW", "url": "https://omabrowser.org/oma/group/QNQVKKW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1694at2759", "url": "http://www.orthodb.org/?query=1694at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12787", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12787", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12787:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12787:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2ZFU", "url": "https://www.rcsb.org/structure/2ZFU", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF05148", "url": "http://pfam.xfam.org/family/PF05148", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43159", "url": "https://pharos.nih.gov/targets/O43159", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43159", "url": "http://purl.obolibrary.org/obo/PR_O43159", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-427359", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427359", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_056139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056139", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E9PPP6", "url": "https://www.uniprot.org/uniprot/E9PPP6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPP6-1", "url": "https://www.uniprot.org/uniprot/E9PPP6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPY3", "url": "https://www.uniprot.org/uniprot/E9PPY3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PPY3-1", "url": "https://www.uniprot.org/uniprot/E9PPY3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PS87", "url": "https://www.uniprot.org/uniprot/E9PS87", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PS87-1", "url": "https://www.uniprot.org/uniprot/E9PS87-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43159-1", "url": "https://www.uniprot.org/uniprot/O43159-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MFEEPEWAEAAPVAAGLGPVISRPPPAASSQNKGSKRRQLLATLRALEAASLSQHPPSLCISDSEEEEEERKKKCPKKASFASASAEVGKKGKKKCQKQGPPCSDSEEEVERKKKCHKQALVGSDSAEDEKRKRKCQKHAPINSAQHLDNVDQTGPKAWKGSTTNDPPKQSPGSTSPKPPHTLSRKQWRNRQKNKRRCKNKFQPPQVPDQAPAEAPTEKTEVSPVPRTDSHEARAGALRARMAQRLDGARFRYLNEQLYSGPSSAAQRLFQEDPEAFLLYHRGFQSQVKKWPLQPVDRIARDLRQRPASLVVADFGCGDCRLASSIRNPVHCFDLASLDPRVTVCDMAQVPLEDESVDVAVFCLSLMGTNIRDFLEEANRVLKPGGLLKVAEVSSRFEDVRTFLRAVTKLGFKIVSKDLTNSHFFLFDFQKTGPPLVGPKAQLSGLQLQPCLYKRR", "length": 456, "header": "sp|O43159-1|RRP8_HUMAN Isoform 1 of Ribosomal RNA-processing protein 8 OS=Homo sapiens OX=9606 GN=RRP8 PE=1 SV=2 CANONICAL=O43159-1" }, "isoforms": [ { "isoform_ac": "E9PPP6-1", "url": "", "sequence": { "sequence": "MFEEPEWAEAAPVAAGLGPVISRPPPAASSQNKVPLEDESVDVAVFCLSLMGTNIRDFLEEANRVLKPGGLLKVAEVSSRFEDVRTFLRAVTKLGFKIVSKDLTNSHFFLFDFQKTGPPLVGPKAQLSGLQLQPCLYKRR", "length": 140, "header": "tr|E9PPP6-1|E9PPP6_HUMAN Computationally mapped isoform of Ribosomal RNA-processing protein 8 OS=Homo sapiens OX=9606 GN=RRP8 PE=1 SV=1 CANONICAL=O43159-1" }, "locus": { "chromosome": "11", "start_pos": 6603502, "end_pos": 6600149, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000534343.1", "url": "https://www.ensembl.org/id/ENST00000534343.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436960.1", "url": "https://www.ensembl.org/id/ENSP00000436960.1" } ] } }, { "isoform_ac": "E9PPY3-1", "url": "", "sequence": { "sequence": "MFEEPEWAEAAPVAAGLGPVISRPPPAASSQNKGSKRRQLLATLRALEAASLSQHPPSLCISDSEEEEEERKKKCPKKASFASASAEVGKKGKKKCQKQGPPCSDSEEEVERKKKCHKQALVGSDSAEDEKRKRKCQKHAPINSAQHLDNVDQTGPKAWKGSTTNDPPKQSPGSTSPKPPHTLSRKQWRNRQKNKRRCKNKFQPPQVPDQAPAEAPTEKTEVSPVPRTDSHEARAGALRARMAQRLDGARFRYLNEQLYSGPSSAAQRLFQEDPEAFLLYHRGFQSQVKKWPLQPVDRIARDLRQR", "length": 306, "header": "tr|E9PPY3-1|E9PPY3_HUMAN Computationally mapped isoform of Ribosomal RNA-processing protein 8 OS=Homo sapiens OX=9606 GN=RRP8 PE=1 SV=1 CANONICAL=O43159-1" }, "locus": { "chromosome": "11", "start_pos": 6603502, "end_pos": 6601148, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533907.1", "url": "https://www.ensembl.org/id/ENST00000533907.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436246.1", "url": "https://www.ensembl.org/id/ENSP00000436246.1" } ] } }, { "isoform_ac": "E9PS87-1", "url": "", "sequence": { "sequence": "MFEEPEWAEAAPVAAGLGPVISRPPPAASSQNKASSILFRPTVIPCFPPGLQAPPALGHITGPRGSISFPASPQPMYK", "length": 78, "header": "tr|E9PS87-1|E9PS87_HUMAN Computationally mapped isoform of Ribosomal RNA processing 8 OS=Homo sapiens OX=9606 GN=RRP8 PE=1 SV=1 CANONICAL=O43159-1" }, "locus": { "chromosome": "11", "start_pos": 6603502, "end_pos": 6602130, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530762.1", "url": "https://www.ensembl.org/id/ENST00000530762.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435873.1", "url": "https://www.ensembl.org/id/ENSP00000435873.1" } ] } }, { "isoform_ac": "O43159-1", "url": "", "sequence": { "sequence": "MFEEPEWAEAAPVAAGLGPVISRPPPAASSQNKGSKRRQLLATLRALEAASLSQHPPSLCISDSEEEEEERKKKCPKKASFASASAEVGKKGKKKCQKQGPPCSDSEEEVERKKKCHKQALVGSDSAEDEKRKRKCQKHAPINSAQHLDNVDQTGPKAWKGSTTNDPPKQSPGSTSPKPPHTLSRKQWRNRQKNKRRCKNKFQPPQVPDQAPAEAPTEKTEVSPVPRTDSHEARAGALRARMAQRLDGARFRYLNEQLYSGPSSAAQRLFQEDPEAFLLYHRGFQSQVKKWPLQPVDRIARDLRQRPASLVVADFGCGDCRLASSIRNPVHCFDLASLDPRVTVCDMAQVPLEDESVDVAVFCLSLMGTNIRDFLEEANRVLKPGGLLKVAEVSSRFEDVRTFLRAVTKLGFKIVSKDLTNSHFFLFDFQKTGPPLVGPKAQLSGLQLQPCLYKRR", "length": 456, "header": "sp|O43159-1|RRP8_HUMAN Isoform 1 of Ribosomal RNA-processing protein 8 OS=Homo sapiens OX=9606 GN=RRP8 PE=1 SV=2 CANONICAL=O43159-1" }, "locus": { "chromosome": "11", "start_pos": 6603502, "end_pos": 6600149, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000254605.11", "url": "https://www.ensembl.org/id/ENST00000254605.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000254605.6", "url": "https://www.ensembl.org/id/ENSP00000254605.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 126, "start_aa": "Ser", "end_pos": 126, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser126", "evidence": [ { "id": "O43159", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43159" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O43159", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43159" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 174, "start_aa": "Ser", "end_pos": 174, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser174", "evidence": [ { "id": "O43159", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43159" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O43159", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43159" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 223, "start_aa": "Ser", "end_pos": 223, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser223", "evidence": [ { "id": "O43159", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43159" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "O43159", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O43159" } ] } ], "phosphorylation": [ { "start_pos": 104, "end_pos": 104, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43159", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43159" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "phospho.ELM", "id": "O43159", "url": "http://phospho.elm.eu.org/byAccession/O43159.html" } ], "site_lbl": "Ser104" }, { "start_pos": 106, "end_pos": 106, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43159", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43159" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "phospho.ELM", "id": "O43159", "url": "http://phospho.elm.eu.org/byAccession/O43159.html" } ], "site_lbl": "Ser106" }, { "start_pos": 124, "end_pos": 124, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43159", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43159" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "phospho.ELM", "id": "O43159", "url": "http://phospho.elm.eu.org/byAccession/O43159.html" } ], "site_lbl": "Ser124" }, { "start_pos": 126, "end_pos": 126, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43159", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43159" }, { "database": "PubMed", "id": "17287340", "url": "https://glygen.org/publication/PubMed/17287340" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O43159", "url": "http://phospho.elm.eu.org/byAccession/O43159.html" } ], "site_lbl": "Ser126" }, { "start_pos": 171, "end_pos": 171, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O43159", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43159" }, { "database": "PubMed", "id": "16565220", "url": "https://glygen.org/publication/PubMed/16565220" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O43159", "url": "http://phospho.elm.eu.org/byAccession/O43159.html" } ], "site_lbl": "Ser171" }, { "start_pos": 174, "end_pos": 174, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43159", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43159" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser174" }, { "start_pos": 175, "end_pos": 175, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O43159", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43159" }, { "database": "PubMed", "id": "18669648", "url": 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"protein_name": "Ribosomal RNA-processing protein 8", "gene_name": "Rrp8", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MFEEPEWVEAAPAIVGLRPVTTQVQAATAPPVKGRKRRHLLATLRALEAASLSQQCPSLPGSDSEEEEEVGRKKRHFQRSSLANVSKEVGKKRKGKCQKQAPFISDSEGKEVERTCHRQAPPLGGISAGEEKGKRKCQEYSYLHPTQSLNSVDQTVHNSRTSTATLDPPKSSRESASPNSSHTLSRKQWRNRQKNKRRHKNKFRPLETQDQVPLKASIEETEVPPAPKSDSQETRAGALRARMTQRLDGARFRYLNEQLYSGPSSAAQCLFQEDPEAFLLYHRGFQRQVKKWPLHPVDRIAKDLRQKPASLVVADFGCGDCRLASSVRNPVHCFDLAALDPRVTVCDMAQVPLEDESVDVAVFCLSLMGTNIRDFLEEANRVLKPGGLLKVAEVSSRFEDIRTFLGAVTKLGFKVIYKDLTNSHFFLFDFEKTGPPRVGPKAQLSGLKLQPCLYKHR", "length": 457 }, "evidence": [ { "id": "45932387", "url": "http://www.informatics.jax.org/homology/45932387", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9DB85-1", "protein_name": "Ribosomal RNA-processing protein 8", "gene_name": "Rrp8", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MFEEPEWVEAAPAIVGLGAATAQVRPATAPPVKGRKRRHLLATLRALEAASLSQQTPSLPGSDSEEEEEVGRKKRHLQRPSLASVSKEVGKKRKGKCQKQAPSISDSEGKEIRRKCHRQAPPLGGVSAGEEKGKRKCQEYSSLHLTQPLDSVDQTVHNSRTSTATIDPSKPSPESMSPNSSHTLSRKQWRNRQKNKRRHKNKFRPLQTPEQAPPKASIEETEVPPVPKSDSQESRAGALRARMTQRLDGARFRYLNEQLYSGPSSAARRLFQEDPEAFLLYHRGFQRQVKKWPLHPVDRIAKDLRQKPASLVVADFGCGDCRLASSVRNPVHCFDLASLDPRVTVCDMAQVPLEDESVDVAVFCLSLMGTNIRDFLEEANRVLKTGGLLKVAEVSSRFEDIRTFLGAVTKLGFKIIYKDLTNSHFFLFDFEKTGPPRVGPKAQLSGLKLQPCLYKRR", "length": 457 }, "evidence": [ { "id": "45932387", "url": "http://www.informatics.jax.org/homology/45932387", "database": "MGI" }, { "id": "O43159", "url": "https://omabrowser.org/oma/group/O43159/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "S-adenosylmethionine-dependent methyltransferase activity", "id": "GO:0008757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008757", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "methylated histone binding", "id": "GO:0035064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035064", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "methyltransferase activity", "id": "GO:0008168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "chromatin silencing complex", "id": "GO:0005677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005677", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "rDNA heterochromatin", "id": "GO:0033553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033553", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "eNoSc complex", "id": "GO:0061773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061773", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "positive regulation of histone deacetylation", "id": "GO:0031065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031065", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:0072332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072332", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "rDNA heterochromatin formation", "id": "GO:0000183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000183", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "regulation of transcription by glucose", "id": "GO:0046015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046015", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" }, { "name": "regulation of G1 to G0 transition", "id": "GO:1903450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903450", "evidence": [ { "database": "UniProtKB", "id": "O43159", "url": "https://www.uniprot.org/uniprot/O43159" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-427514", "name": "eNoSC deacetylates histone H3", "equation": "", "summary": "The Sirtuin-1 (SIRT1) component of eNoSC deacetylates histone H3 at lysine-9 (Vaquero et al. 2004, Murayama et al. 2008). The reaction uses nicotinamide adenine dinucleotide (NAD) as the acceptor of the acetyl group and generates nicotinamide and 1-O-acetyl-ADP-ribose as products (Vaquero et al. 2004). The use of NAD links the reaction to the overall energy balance of the cell. Cells exposed to high glucose have a greater NADH:NAD ratio and therefore lower activity of eNoSC (Murayama et al. 2008). Low glucose produces higher NAD and higher activity of eNoSC.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96EB6-1", "O43463-1", "O43159-1" ], "evidence": [ { "id": "R-HSA-427514", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427514" } ] }, { "id": "R-HSA-427527", "name": "eNoSC dimethylates histone H3 at lysine-9", "equation": "", "summary": "The SUV39H1 component of eNoSC dimethylates histone H3 at lysine-9 (Murayama et al. 2008). The reaction depends on the prior deacetylation reaction catalyzed by the SIRT1 component of eNoSC. Histone H3 dimethylated at lysine-9 inhibits expression of rRNA genes.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q96EB6-1", "O43463-1", "O43159-1" ], "evidence": [ { "id": "R-HSA-427527", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427527" } ] }, { "id": "R-HSA-427528", "name": "Formation of energy-dependent Nucleolar Silencing Complex (eNoSC)", "equation": "", "summary": "RRP8 (Nucleomethylin, NML), SIRT1, and SUV39H1 form the energy-dependent Nucleolar Silencing Complex (eNoSC) at inactive rRNA genes (Murayama et al. 2008). RRP8 is constitutively located in the nucleolus (Yang et al. 2013), binds histone H3 dimethylated at lysine-9 (Murayama et al. 2008) and appears to recruit SIRT1 from the nucleoplasm to the nucleolus (Yang et al. 2013). The eNoSC binds chromatin throughout the rRNA transcription unit. SIRT1 may deacetylate and, hence, activate SUV39H1 but this has not yet been shown at rDNA. Abrogation of any member of eNoSC interferes with binding of the other members of the complex. The eNoSC complex appears to cause spreading of heterochromatin at rDNA.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-427517", "R-HSA-427524", "R-HSA-427531" ], "output_participant_list": [ "R-HSA-427510" ], "enzyme_list": [ "Q96EB6-1", "O43463-1", "O43159-1" ], "evidence": [ { "id": "R-HSA-427528", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427528" } ] }, { "id": "R-HSA-5096488", "name": "RRP8 binds RNA", "equation": "", "summary": "RRP8 (Nucleomethylin, NML) recruits SIRT1 to the nucleolus to form the energy-dependent Nucleolar Silencing Complex (eNoSC), which induces chromatin changes that inhibit rRNA transcription. RRP8 can bind 5S RNA (transcribed by RNA ploymerase III), 5.8S rRNA, and 28S rRNA and the bound RNA prevents RRP8 from binding SIRT1 (Yang et al. 2013). Thus the level of 5S RNA, 5.8S rRNA, and 28S rRNA in the nucleus negatively regulates the assembly of eNoSC, coupling transcriptional regulation of rRNA to epigenetic silencing of rRNA genes.", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43159-1" ], "evidence": [ { "id": "R-HSA-5096488", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5096488" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-427510", "participant_name": "eNoSC [nucleoplasm]", "crossref": [ { "id": "CPX-467", "database": "ComplexPortal", "url": "" } ] }, { "participant_id": "R-HSA-427517", "participant_name": "SUV39H1 [nucleoplasm]", "crossref": [ { "id": "O43463", "database": "UniProt", "url": "" }, { "id": "SUV91_HUMAN", "database": "ZINC - Metabolites", "url": "" }, { "id": "O43463", "database": "ZINC target", "url": "" }, { "id": "O43463", "database": "PRO", "url": "" }, { "id": "ENST00000337852", "database": "Ensembl", "url": "" }, { "id": "O43463", "database": "Pharos - Targets", "url": "" }, { "id": "O43463", "database": "GeneCards", "url": "" }, { "id": "2715", "database": "Guide to Pharmacology - Targets", "url": "" }, { "id": "NP_001269095.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000365877", "database": "Ensembl", "url": "" }, { "id": "ENSP00000337976", "database": "Ensembl", "url": "" }, { "id": "ENSG00000101945", "database": "Ensembl", "url": "" }, { "id": "SUV91_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "ENST00000376687", "database": "Ensembl", "url": "" }, { "id": "NP_003164.1", "database": "RefSeq", "url": "" }, { "id": "3MTS", "database": "PDB", "url": "" }, { "id": "2.1.1.355", "database": "IntEnz", "url": "" }, { "id": "SUV91_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "ENSG00000101945", "database": "OpenTargets", "url": "" }, { "id": "HMDBP00422", "database": "HMDB Protein", "url": "" }, { "id": "ENSG00000101945-SUV39H1", "database": "HPA", "url": "" }, { "id": "SUV91_HUMAN", "database": "ZINC - World Drugs", "url": "" }, { "id": "SUV91_HUMAN", "database": "ZINC - Biogenic", "url": "" } ] }, { "participant_id": "R-HSA-427524", "participant_name": "RRP8 [nucleoplasm]", "crossref": [ { "id": "O43159", "database": "UniProt", "url": "" }, { "id": "O43159", "database": "PRO", "url": "" }, { "id": "2ZFU", "database": "PDB", "url": "" }, { "id": "ENSG00000132275", "database": "Ensembl", "url": "" }, { "id": "ENSP00000254605", "database": "Ensembl", "url": "" }, { "id": "O43159", "database": "GeneCards", "url": "" }, { "id": "O43159", "database": "Pharos - Targets", "url": "" }, { "id": "ENSG00000132275", "database": "OpenTargets", "url": "" }, { "id": "ENST00000254605", "database": "Ensembl", "url": "" }, { "id": "ENSG00000132275-RRP8", "database": "HPA", "url": "" }, { "id": "NP_056139.1", "database": "RefSeq", "url": "" } ] }, { "participant_id": "R-HSA-427531", "participant_name": "SIRT1 [nucleoplasm]", "crossref": [ { "id": "Q96EB6", "database": "UniProt", "url": "" }, { "id": "5BTR", "database": "PDB", "url": "" }, { "id": "ENST00000212015", "database": "Ensembl", "url": "" }, { "id": "ENSG00000096717", "database": "Ensembl", "url": "" }, { "id": "ENSP00000212015", "database": "Ensembl", "url": "" }, { "id": "2.3.1.286", "database": "IntEnz", "url": "" }, { "id": "Q96EB6", "database": "Pharos - Targets", "url": "" }, { "id": "4I5I", "database": "PDB", "url": "" }, { "id": "HMDBP08879", "database": "HMDB Protein", "url": "" }, { "id": "NP_001135970.1", "database": "RefSeq", "url": "" }, { "id": "4ZZI", "database": "PDB", "url": "" }, { "id": "ENSG00000096717", "database": "OpenTargets", "url": "" }, { "id": "SIR1_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "24903", "database": "Orphanet", "url": "" }, { "id": "4ZZJ", "database": "PDB", "url": "" }, { "id": "NP_036370.2", "database": "RefSeq", "url": "" }, { "id": "4KXQ", "database": "PDB", "url": "" }, { "id": "Q96EB6", "database": "GeneCards", "url": "" }, { "id": "ENSG00000096717-SIRT1", "database": "HPA", "url": "" }, { "id": "4ZZH", "database": "PDB", "url": "" }, { "id": "Q96EB6", "database": "PRO", "url": "" }, { "id": "SIR1_HUMAN", "database": "ZINC - Investigational", "url": "" }, { "id": "4IF6", "database": "PDB", "url": "" }, { "id": "4IG9", "database": "PDB", "url": "" }, { "id": "NP_001300978.1", "database": "RefSeq", "url": "" }, { "id": "SIR1_HUMAN", "database": "ZINC - Biogenic", "url": "" }, { "id": "Q96EB6", "database": "ZINC target", "url": "" }, { "id": "SIR1_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "2707", "database": "Guide to Pharmacology - Targets", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O43159", "gene_name": "RRP8", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "O43159", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43159" } ] } ] }, { "uniprot_ac": "O43463", "gene_name": "SUV39H1", "activity": [ { "ec_number": "2.1.1.355", "activity": "L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(9)-[histone H3] + 3 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "O43463", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43463" } ] }, { "ec_number": "2.1.1.355", "activity": "", "evidence": [ { "id": "O43463", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43463" } ] } ] }, { "uniprot_ac": "Q96EB6", "gene_name": "SIRT1", "activity": [ { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q96EB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EB6" } ] }, { "ec_number": "2.3.1.286", "activity": "H2O + N(6)-acetyl-L-lysyl-[protein] + NAD(+) = 2''-O-acetyl-ADP-D-ribose + L-lysyl-[protein] + nicotinamide.", "evidence": [ { "id": "Q96EB6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96EB6" } ] }, 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