{ "uniprot_canonical_ac": "Q92979-1", "uniprot_ac": "Q92979", "uniprot_id": "NEP1_HUMAN", "mass": { "chemical_mass": 26720.0, "monoisotopic_mass": 26720.0 }, "refseq": { "ac": "NP_001306978", "name": "ribosomal RNA small subunit methyltransferase NEP1 isoform 2", "summary": "This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306978" }, "gene_names": [ { "name": "EMG1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q92979", "id": "Q92979" }, { "name": "C2F; Grcc2f; NEP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306978", "id": "NP_001306978" }, { "name": "C2F", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q92979", "id": "Q92979" }, { "name": "EMG1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306978", "id": "NP_001306978" } ], "protein_names": [ { "name": "Ribosomal RNA small subunit methyltransferase NEP1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q92979" }, { "name": "18S rRNA (pseudouridine(1248)-N1)-methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92979" }, { "name": "18S rRNA Psi1248 methyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92979" }, { "name": "2.1.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92979" }, { "name": "Nucleolar protein EMG1 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92979" }, { "name": "Protein C2f", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92979" }, { "name": "Ribosome biogenesis protein NEP1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92979" }, { "name": "essential for mitotic growth 1; EMG1 nucleolar protein homolog; 18S rRNA (pseudouridine(1248)-N1)-methyltransferase; ribosomal RNA small subunit methyltransferase NEP1; ribosome biogenesis protein NEP1; 18S rRNA Psi1248 methyltransferase; 18S rRNA (pseudouridine-N1-)-methyltransferase NEP1; nucleolar essential protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306978", "id": "NP_001306978" }, { "name": "ribosomal RNA small subunit methyltransferase NEP1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306978", "id": "NP_001306978" } ], "function": [ { "annotation": "Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001306978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306978" }, { "database": "PubMed", "id": "19463982", "url": "https://glygen.org/publication/PubMed/19463982" } ] }, { "annotation": "Our findings further indicate that in Bowen-Conradi syndrome, nuclear disassembly of the import complex and release of EMG1D86G lead to its nuclear aggregation and degradation, resulting in the reduced nucleolar recruitment of the RNA methyltransferase and defects in the biogenesis of the small ribosomal subunit.", "evidence": [ { "database": "RefSeq", "id": "NP_001306978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306978" }, { "database": "PubMed", "id": "27798105", "url": "https://glygen.org/publication/PubMed/27798105" } ] }, { "annotation": "S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position (PubMed:20047967). Has also an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-ribosomes (By similarity). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797).", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979#function" }, { "database": "PubMed", "id": "20047967", "url": "https://glygen.org/publication/PubMed/20047967" }, { "database": "UniProtKB", "id": "Q06287", "url": "https://www.uniprot.org/uniprot/Q06287#function" }, { "database": "PubMed", "id": "34516797", "url": "https://glygen.org/publication/PubMed/34516797" } ] }, { "annotation": "This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001306978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306978" } ] } ], "disease": [ { "disease_id": "DOID:0050684", "recommended_name": { "id": "DOID:0050684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050684", "name": "Bowen-Conradi syndrome", "description": "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13." }, "synonyms": [ { "id": "DOID:0050684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050684", "name": "BWCNS", "description": "" }, { "id": "DOID:0050684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050684", "name": "Bowen Hutterite syndrome", "description": "" }, { "id": "DOID:0050684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050684", "name": "Bowen-Conradi Hutterite syndrome", "description": "" }, { "id": "MONDO:0008879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008879", "name": "Bowen-Conradi syndrome", "description": "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet." }, { "id": "MONDO:0008879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008879", "name": "Bowen syndrome, Hutterite type", "description": "" }, { "id": "MONDO:0008879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008879", "name": "Bowen-Conradi syndrome", "description": "" }, { "id": "MONDO:0008879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008879", "name": "BWCNS", "description": "" }, { "id": "MONDO:0008879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008879", "name": "Bowen Hutterite syndrome", "description": "" }, { "id": "MONDO:0008879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008879", "name": "Bowen Hutterite syndrome (formerly)", "description": "" }, { "id": "MONDO:0008879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008879", "name": "Bowen Hutterite syndrome, formerly", "description": "" }, { "id": "MONDO:0008879", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008879", "name": "Bowen-Conradi Hutterite syndrome", "description": "" }, { "id": "MIM:211180", "resource": "MIM", "url": "https://www.omim.org/entry/211180", "name": "Bowen-Conradi syndrome", "description": "Bowen-Conradi syndrome" } ], "evidence": [ { "id": "211180", "database": "MIM", "url": "https://www.omim.org/entry/211180" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "71.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.1", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.69", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "87.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "86.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "58.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "73.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "58.67", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "80.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "84.71", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000126749", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000126749" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q92979", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92979" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q92979", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92979" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q92979", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92979" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q92979", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92979" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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[ "Protein" ] }, { "id": "A0A087WVM7-1", "url": "https://www.uniprot.org/uniprot/A0A087WVM7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92979-1", "url": "https://www.uniprot.org/uniprot/Q92979-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAPSDGFKPRERSGGEQAQDWDALPPKRPRLGAGNKIGGRRLIVVLEGASLETVKVGKTYELLNCDKHKSILLKNGRDPGEARPDITHQSLLMLMDSPLNRAGLLQVYIHTQKNVLIEVNPQTRIPRTFDRFCGLMVQLLHKLSVRAADGPQKLLKVIKNPVSDHFPVGCMKVGTSFSIPVVSDVRELVPSSDPIVFVVGAFAHGKVSVEYTEKMVSISNYPLSAALTCAKLTTAFEEVWGVI", "length": 244, "header": "sp|Q92979-1|NEP1_HUMAN Isoform 1 of Ribosomal RNA small subunit methyltransferase NEP1 OS=Homo sapiens OX=9606 GN=EMG1 PE=1 SV=4 CANONICAL=Q92979-1" }, "isoforms": [ { "isoform_ac": "A0A087WVM7-1", "url": "", "sequence": { "sequence": "XLEGASLETVKVGKTYELLNCDKHKSILLKNGRDPGEARPDITHQSLLMLMDSPLNRAGLLQVYIHTQKNVLIEVNPQTRIPRTFDRFCGLMVQLLHKLSVRAADGPQKLLKVSVEYTEKMVSISNYPLSAALTCAKLTTAFEEVWGVI", "length": 149, "header": "tr|A0A087WVM7-1|NEP1_HUMAN Computationally mapped isoform of Ribosomal RNA small subunit methyltransferase NEP1 OS=Homo sapiens OX=9606 GN=EMG1 PE=1 SV=1 CANONICAL=Q92979-1" }, "locus": { "chromosome": "12", "start_pos": 6975808, "end_pos": 6971061, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539196.2", "url": "https://www.ensembl.org/id/ENST00000539196.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000479546.1", "url": "https://www.ensembl.org/id/ENSP00000479546.1" } ] } }, { "isoform_ac": "Q92979-1", "url": "", "sequence": { "sequence": "MAAPSDGFKPRERSGGEQAQDWDALPPKRPRLGAGNKIGGRRLIVVLEGASLETVKVGKTYELLNCDKHKSILLKNGRDPGEARPDITHQSLLMLMDSPLNRAGLLQVYIHTQKNVLIEVNPQTRIPRTFDRFCGLMVQLLHKLSVRAADGPQKLLKVIKNPVSDHFPVGCMKVGTSFSIPVVSDVRELVPSSDPIVFVVGAFAHGKVSVEYTEKMVSISNYPLSAALTCAKLTTAFEEVWGVI", "length": 244, "header": "sp|Q92979-1|NEP1_HUMAN Isoform 1 of Ribosomal RNA small subunit methyltransferase NEP1 OS=Homo sapiens OX=9606 GN=EMG1 PE=1 SV=4 CANONICAL=Q92979-1" }, "locus": { "chromosome": "12", "start_pos": 6975806, "end_pos": 6970924, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000599672.6", "url": "https://www.ensembl.org/id/ENST00000599672.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000470560.1", "url": "https://www.ensembl.org/id/ENSP00000470560.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q92979", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q92979" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" } ] } ], "phosphorylation": [ { "start_pos": 14, "end_pos": 14, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q92979", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92979" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser14" }, { "start_pos": 51, "end_pos": 51, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92979", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92979" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser51" }, { "start_pos": 54, "end_pos": 54, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q92979", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92979" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr54" }, { "start_pos": 5, "end_pos": 5, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q92979", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92979" }, { "database": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" }, { "database": "PubMed", "id": "19691289", "url": "https://glygen.org/publication/PubMed/19691289" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser5" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human Nop5/Nop58 is a component common to the box C/D small nucleolar ribonucleoproteins.", "journal": "RNA (New York, N.Y.)", "date": "1999", "authors": "Lyman SK, Gerace L, Baserga SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "10606270", "url": "https://glygen.org/publication/PubMed/10606270" } ] }, { "title": "A common core RNP structure shared between the small nucleoar box C/D RNPs and the spliceosomal U4 snRNP.", "journal": "Cell", "date": "2000", "authors": "Watkins NJ, Segault V, Charpentier B, Nottrott S, Fabrizio P, Bachi A, Wilm M, Rosbash M, Branlant C, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "11081632", "url": "https://glygen.org/publication/PubMed/11081632" } ] }, { "title": "Isolation and proteomic characterization of the major proteins of the nucleolin-binding ribonucleoprotein complexes.", "journal": "Proteomics", "date": "2001", "authors": "Yanagida M, Shimamoto A, Nishikawa K, Furuichi Y, Isobe T, Takahashi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "11922599", "url": "https://glygen.org/publication/PubMed/11922599" } ] }, { "title": "Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis.", "journal": "Curr. Genet.", "date": "2002", "authors": "Eschrich D, Buchhaupt M, Kotter P, Entian KD", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" }, { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "11935223", "url": "https://glygen.org/publication/PubMed/11935223" } ] }, { "title": "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.", "journal": "Cytogenetics and cell genetics", "date": "2001", "authors": "Doll A, Grzeschik KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "11978965", "url": "https://glygen.org/publication/PubMed/11978965" } ] }, { "title": "A large nucleolar U3 ribonucleoprotein required for 18S ribosomal RNA biogenesis.", "journal": "Nature", "date": "2002", "authors": "Dragon F, Gallagher JE, Compagnone-Post PA, Mitchell BM, Porwancher KA, Wehner KA, Wormsley S, Settlage RE, Shabanowitz J, Osheim Y, Beyer AL, Hunt DF, Baserga SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "12068309", "url": "https://glygen.org/publication/PubMed/12068309" } ] }, { "title": "90S pre-ribosomes include the 35S pre-rRNA, the U3 snoRNP, and 40S subunit processing factors but predominantly lack 60S synthesis factors.", "journal": "Molecular cell", "date": "2002", "authors": "Grandi P, Rybin V, Bassler J, Petfalski E, Strauss D, Marzioch M, Schafer T, Kuster B, Tschochner H, Tollervey D, Gavin AC, Hurt E", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "12150911", "url": "https://glygen.org/publication/PubMed/12150911" } ] }, { "title": "Conserved stem II of the box C/D motif is essential for nucleolar localization and is required, along with the 15.5K protein, for the hierarchical assembly of the box C/D snoRNP.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Watkins NJ, Dickmanns A, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "12417735", "url": "https://glygen.org/publication/PubMed/12417735" } ] }, { "title": "Human box H/ACA pseudouridylation guide RNA machinery.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Kiss AM, Jady BE, Bertrand E, Kiss T", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "15199136", "url": "https://glygen.org/publication/PubMed/15199136" } ] }, { "title": "Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells.", "journal": "The EMBO journal", "date": "2005", "authors": "Rouquette J, Choesmel V, Gleizes PE", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16037817", "url": "https://glygen.org/publication/PubMed/16037817" } ] }, { "title": "Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation.", "journal": "The Journal of cell biology", "date": "2005", "authors": "Holzel M, Rohrmoser M, Schlee M, Grimm T, Harasim T, Malamoussi A, Gruber-Eber A, Kremmer E, Hiddemann W, Bornkamm GW, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16043514", "url": "https://glygen.org/publication/PubMed/16043514" } ] }, { "title": "snoRNA-LBME-db, a comprehensive database of human H/ACA and C/D box snoRNAs.", "journal": "Nucleic acids research", "date": "2006", "authors": "Lestrade L, Weber MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "16381836", "url": "https://glygen.org/publication/PubMed/16381836" } ] }, { "title": "Dominant-negative Pes1 mutants inhibit ribosomal RNA processing and cell proliferation via incorporation into the PeBoW-complex.", "journal": "Nucleic acids research", "date": "2006", "authors": "Grimm T, Holzel M, Rohrmoser M, Harasim T, Malamoussi A, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "16738141", "url": "https://glygen.org/publication/PubMed/16738141" } ] }, { "title": "Protein-protein and protein-RNA contacts both contribute to the 15.5K-mediated assembly of the U4/U6 snRNP and the box C/D snoRNPs.", "journal": "Molecular and cellular biology", "date": "2006", "authors": "Schultz A, Nottrott S, Watkins NJ, Luhrmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "16782898", "url": "https://glygen.org/publication/PubMed/16782898" } ] }, { "title": "The BRCT domain of mammalian Pes1 is crucial for nucleolar localization and rRNA processing.", "journal": "Nucleic acids research", "date": "2007", "authors": "Holzel M, Grimm T, Rohrmoser M, Malamoussi A, Harasim T, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17189298", "url": "https://glygen.org/publication/PubMed/17189298" } ] }, { "title": "Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Rohrmoser M, Holzel M, Grimm T, Malamoussi A, Harasim T, Orban M, Pfisterer I, Gruber-Eber A, Kremmer E, Eick D", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17353269", "url": "https://glygen.org/publication/PubMed/17353269" } ] }, { "title": "C1D and hMtr4p associate with the human exosome subunit PM/Scl-100 and are involved in pre-rRNA processing.", "journal": "Nucleic acids research", "date": "2007", "authors": "Schilders G, van Dijk E, Pruijn GJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "17412707", "url": "https://glygen.org/publication/PubMed/17412707" } ] }, { "title": "A dynamic scaffold of pre-snoRNP factors facilitates human box C/D snoRNP assembly.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "McKeegan KS, Debieux CM, Boulon S, Bertrand E, Watkins NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "17636026", "url": "https://glygen.org/publication/PubMed/17636026" } ] }, { "title": "ISG20L2, a novel vertebrate nucleolar exoribonuclease involved in ribosome biogenesis.", "journal": "Molecular & cellular proteomics : MCP", "date": "2008", "authors": "Coute Y, Kindbeiter K, Belin S, Dieckmann R, Duret L, Bezin L, Sanchez JC, Diaz JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "18065403", "url": "https://glygen.org/publication/PubMed/18065403" } ] }, { "title": "Mouse Eri1 interacts with the ribosome and catalyzes 5.8S rRNA processing.", "journal": "Nature structural & molecular biology", "date": "2008", "authors": "Ansel KM, Pastor WA, Rath N, Lapan AD, Glasmacher E, Wolf C, Smith LC, Papadopoulou N, Lamperti ED, Tahiliani M, Ellwart JW, Shi Y, Kremmer E, Rao A, Heissmeyer V", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "18438418", "url": "https://glygen.org/publication/PubMed/18438418" } ] }, { "title": "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis.", "journal": "Analytical chemistry", "date": "2008", "authors": "Wang B, Malik R, Nigg EA, Korner R", "evidence": [ { "database": "iPTMnet", "id": "Q92979", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92979" } ], "reference": [ { "type": "PubMed", "id": "19007248", "url": "https://glygen.org/publication/PubMed/19007248" } ] }, { "title": "Functionality and substrate specificity of human box H/ACA guide RNAs.", "journal": "RNA (New York, N.Y.)", "date": "2009", "authors": "Xiao M, Yang C, Schattner P, Yu YT", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "19033376", "url": "https://glygen.org/publication/PubMed/19033376" } ] }, { "title": "Critical role of nucleostemin in pre-rRNA processing.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Romanova L, Grand A, Zhang L, Rayner S, Katoku-Kikyo N, Kellner S, Kikyo N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "19106111", "url": "https://glygen.org/publication/PubMed/19106111" } ] }, { "title": "A novel small-subunit processome assembly intermediate that contains the U3 snoRNP, nucleolin, RRP5, and DBP4.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Turner AJ, Knox AA, Prieto JL, McStay B, Watkins NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "19332556", "url": "https://glygen.org/publication/PubMed/19332556" } ] }, { "title": "Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.", "journal": "Am. J. Hum. Genet.", "date": "2009", "authors": "Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" }, { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" }, { "database": "RefSeq", "id": "NP_001306978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306978" } ], "reference": [ { "type": "PubMed", "id": "19463982", "url": "https://glygen.org/publication/PubMed/19463982" } ] }, { "title": "Distinct cytoplasmic maturation steps of 40S ribosomal subunit precursors require hRio2.", "journal": "The Journal of cell biology", "date": "2009", "authors": "Zemp I, Wild T, O'Donohue MF, Wandrey F, Widmann B, Gleizes PE, Kutay U", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": 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10090, "organism": "Mus musculus", "sequence": { "sequence": "MSAASGGFQPRERRFSVQEQDWETTPPKKLRLGAGSKCGGRRLIVVLEGASLETVKVGKTYELLNCDRHKSMLLKNGRDPGEVRPDITHQSLLMLMDSPLNRAGLLQVYIHTQKNVLIEVNPQTRIPRTFDRFCGLMVQLLHKLSVRAADGPQKLLKVIKNPVSDHFPVGCMKIGTSFSVEDISDIRELVPSSDPVVFVVGAFAHGKVSVEYTEKMVSISNYPLSAALTCAKVTTAFEEVWGVI", "length": 244 }, "evidence": [ { "id": "45237897", "url": "http://www.informatics.jax.org/homology/45237897", "database": "MGI" }, { "id": "Q92979", "url": "https://omabrowser.org/oma/group/Q92979/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "rRNA binding", "id": "GO:0019843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019843", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "rRNA (pseudouridine) methyltransferase activity", "id": "GO:0070037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070037", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "rRNA base methylation", "id": "GO:0070475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070475", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "nucleologenesis", "id": "GO:0017126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017126", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "rRNA processing", "id": "GO:0006364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006364", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "blastocyst development", "id": "GO:0001824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001824", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "ribosomal small subunit biogenesis", "id": "GO:0042274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042274", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" }, { "name": "small-subunit processome", "id": "GO:0032040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032040", "evidence": [ { "database": "UniProtKB", "id": "Q92979", "url": "https://www.uniprot.org/uniprot/Q92979" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "46712", "name": "", "equation": "pseudouridine(1248) in human 18S rRNA + S-adenosyl-L-methionine = H(+) + N(1)-methylpseudouridine(1248) in human 18S rRNA + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q92979-1", "O35130-1" ], "evidence": [ { "id": "46712", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46712" } ] }, { "id": "R-HSA-6790906", "name": "EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248", "equation": "", "summary": "EMG1 (NEP1) methylates a pseudouridine residue in precursor rRNA (pre-rRNA) to yield N(1)-methylpseudouridine (Wurm et al. 2010 and inferred from the yeast homolog) in the nucleolus (Eschrich et al. 2002). Following further modification and nucleolytic processing, the N(1)-methylpseduouridine residue will become N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine-1248 of the 18S rRNA. A mutation in EMG1 causes Bowen-Conradi Syndrome, which is characterized by growth retardation, microcephaly, severe psychomotor delay, and minor external abnormalities (Armistead et al. 2009). As inferred from the yeast homolog, EMG1 is a component of the small subunit processome (SSU processome) a large complex of proteins that binds the 5' region of pre-rRNA, processes and modifies the 18S rRNA, and assists the assembly of the small ribosomal subunit.", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-6790694" ], "output_participant_list": [ "R-HSA-6790887" ], "enzyme_list": [ "Q8IY37-1", "Q92979-1", "P22087-1", "Q9H0S4-1", "Q9Y6V7-1", "Q9Y2R4-1" ], "evidence": [ { "id": "R-HSA-6790906", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790906" } ] }, { "id": "R-HSA-6791221", "name": "30S pre-rRNA is nucleolytically processed at site 1 to yield 21S pre-rRNA", "equation": "", "summary": "An unknown endonuclease cleaves site 1 (also called site A1), removing the remainder of the 5' external transcribed spacer (5' ETS) from 30S pre-rRNA containing the 18S rRNA (Freed et al. 2012, Tomecki et al. 2015). Sixteen proteins of the small ribosomal subunit are required for processing sequences flanking the 18S rRNA in the 30S pre-rRNA (O'Donohue et al. 2010) presumably due to their assembly onto pre-rRNA as processing proceeds. Additionally, FCF1 (hUTP24, part of the SSU processome) is required for cleavage at site 1 (Tomecki et al. 2015) and NOL11 and CIRH1A (Cirhin, part of the UTPA complex) interact and are required for cleavage at site 1 and other sites (A', A0, and 2) (Freed et al. 2012). FTSJ3 and NIP7 interact and are required for processing at sites 1, 2, and A0 (Morello et al. 2011).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8IY81-1", "Q8IY37-1", "Q92979-1", "P22087-1", "Q9H0S4-1", "Q9Y6V7-1", "Q9Y2R4-1" ], "evidence": [ { "id": "R-HSA-6791221", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791221" } ] }, { "id": "R-HSA-6791222", "name": "21S pre-rRNA is nucleolytically processed at site E (site2a) to yield 18SE pre-rRNA", "equation": "", "summary": "An unknown endonuclease in the nucleolus cleaves at site E (site 2a in mouse) of 21S pre-rRNA, yielding 18SE pre-rRNA (Preti et al. 2013, Sloan et al. 2013). Evidence also indicates that 18SE may also be produced by an exonucleolytic pathway (Carron et al. 2011, Sloan et al. 2013). BYSL (Bystin, ENG1), SKIV2L2 (MTR4), and the exonuclease activity of EXOSC10 (RRP6), all associated with the exosome, are required for formation of 18SE by the exonucleolytic pathway (Sloan et al. 2013). Sequencing indicates that 18SE molecules can have variable ends, presumably due to exonuclease activity (Preti et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8IY37-1", "Q92979-1", "Q01780-1", "P22087-1", "Q9H0S4-1", "Q9Y6V7-1", "P42285-1", "Q9Y2R4-1" ], "evidence": [ { "id": "R-HSA-6791222", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791222" } ] }, { "id": "R-HSA-6791227", "name": "47S pre-rRNA is nucleolytically processed at A' (01,A1), site A0, and site 02 (site 6) to yield 45S pre-rRNA", "equation": "", "summary": "Unknown nucleases concomitantly cleave the 47S precursor rRNA (pre-rRNA) at the A' site (also known as the 01 site or the A1 site), the A0 site in the 5' external transcribed spacer (5' ETS), and site 02 (also known as site 6 in mouse) in the 3' ETS (Sloan et al. 2014). Cleavage occurs when the pre-rRNA is complexed with the small subunit processome (SSU processome) complex, a large protein complex that binds the 5' region of the pre-rRNA after transcription commences (Kass and Sollner-Webb 1990, Sloan et al. 2014, inferred from yeast in Dragon et al. 2002). The UTP-A subcomplex of the SSU processome and SKIV2L2 (MTR4) are required for cleavage at the A' site while the UTP-B subcomplex and U3 snoRNP (Sloan et al. 2014) and RRP36 of the UTPC subcomplex of the SSU processome (Gerus et al. 2010) improve efficiency of cleavage. UTP18 is required for cleavage of the 5' ETS (Holzel et al. 2010). Nucleolin (NCL) interacts with the 47S pre-rRNA (Yanagida et al. 2001, inferred from mouse in Ginisty et al. 1998) and is involved in cleavage at the A' site (inferred from mouse in Ginisty et al. 1998) but its association with the SSU processome is transitory (Turner et al. 2009). NOL11, a component of the SSU processome which interacts with UTP4, increases the efficiency of processing at A', but is not strictly required (Freed et al. 2012). XRN2 exonucleolytically degrades the 5' 01 fragment (Sloan et al. 2013, inferred from mouse homologs in Wang and Pestov 2011).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8IY37-1", "Q92979-1", "P22087-1", "Q9H0S4-1", "Q9H0D6-1", "Q9Y6V7-1", "P42285-1", "Q9Y2R4-1" ], "evidence": [ { "id": "R-HSA-6791227", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791227" } ] }, { "id": "R-HSA-6791228", "name": "45S pre-rRNA is nucleolytically processed at site 2 (site 2b) to yield 30S pre-rRNA and 32S pre-rRNA", "equation": "", "summary": "An unknown endonuclease cleaves at site 2 (also called site 2b in mouse) in the internal transcribed spacer 1 (ITS1) between the 18S rRNA and the 5.8S rRNA in the 45S precursor rRNA (pre-rRNA) while the pre-rRNA is contained in a 90S particle containing ribosomal proteins and assembly factors (Sloan et al. 2013). (The 90S particle is believed to be produced by addition of further subunits to the complex containing the pre-RNA and the small subunit (SSU) processome (inferred from yeast in Grandi et al. 2002).) The products are a 30S pre-rRNA which contains the 18S rRNA and a 32S pre-rRNA containing the 5.8S rRNA and the 28S rRNA. The cleavage splits the 90S particle into a pre-40S particle and a pre-60S particle and is believed to occur while the 5' region of the 45S rRNA is bound by the SSU processome. BOP1 (a subunit of the PeBoW complex), RBM28, NOL12 and RRP1 (NOP52) also participate in the cleavage (Sloan et al. 2013, Yoshikawa et al. 2015). Exonucleases including XRN2 and EXOSC10 (RRP6) of the exosome complex then remove further nucleotides from the end of the ITS (Sloan et al. 2013).", "cellular_location": "nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q8IY37-1", "Q92979-1", "Q01780-1", "P22087-1", "Q9H0S4-1", "Q9H0D6-1", "Q9Y6V7-1", "Q9Y2R4-1" ], "evidence": [ { "id": "R-HSA-6791228", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791228" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-6790694", "participant_name": "pre-rRNA containing pseudouridine [nucleoplasm]", "crossref": [ { "id": "NR_046235", "database": "NCBI Nucleotide", "url": "" }, { "id": "65314", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-HSA-6790887", "participant_name": "18SE pre-rRNA containing 1-methylpseudoU-1248 [nucleoplasm]", "crossref": [ { "id": "18111", "database": "ChEBI", "url": "" }, { "id": "X03205", "database": "EMBL", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O35130", "gene_name": "Emg1", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "O35130", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O35130" } ] } ] }, { "uniprot_ac": "P22087", "gene_name": "FBL", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "P22087", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22087" } ] } ] }, { "uniprot_ac": "P42285", "gene_name": "MTREX", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "P42285", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42285" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "P42285", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42285" } ] } ] }, { "uniprot_ac": "Q01780", "gene_name": "EXOSC10", "activity": [ { "ec_number": "3.1.13.-", "activity": "", "evidence": [ { "id": "Q01780", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01780" } ] } ] }, { "uniprot_ac": "Q8IY37", "gene_name": "DHX37", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q8IY37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IY37" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "Q8IY37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IY37" } ] } ] }, { "uniprot_ac": "Q8IY81", "gene_name": "FTSJ3", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q8IY81", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IY81" } ] } ] }, { "uniprot_ac": "Q92979", "gene_name": "EMG1", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q92979", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92979" } ] } ] }, { "uniprot_ac": "Q9H0D6", "gene_name": "XRN2", "activity": [ { "ec_number": "3.1.13.-", "activity": "", "evidence": [ { "id": "Q9H0D6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H0D6" } ] } ] }, { "uniprot_ac": "Q9H0S4", "gene_name": "DDX47", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q9H0S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H0S4" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "Q9H0S4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H0S4" } ] } ] }, { "uniprot_ac": "Q9Y2R4", "gene_name": "DDX52", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q9Y2R4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2R4" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "Q9Y2R4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2R4" } ] } ] }, { "uniprot_ac": "Q9Y6V7", "gene_name": "DDX49", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q9Y6V7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y6V7" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "Q9Y6V7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y6V7" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ 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