{ "uniprot_canonical_ac": "O43709-1", "uniprot_ac": "O43709", "uniprot_id": "BUD23_HUMAN", "mass": { "chemical_mass": 31880.0, "monoisotopic_mass": 31880.0 }, "refseq": { "ac": "NP_001189489", "name": "probable 18S rRNA (guanine-N(7))-methyltransferase isoform 1", "summary": "This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489" }, "gene_names": [ { "name": "BUD23", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43709", "id": "O43709" }, { "name": "BUD23", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489", "id": "NP_001189489" }, { "name": "HASJ4442; HUSSY-3; MERM1; PP3381; WBMT; WBSCR22", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489", "id": "NP_001189489" }, { "name": "HUSSY-03", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43709", "id": "O43709" }, { "name": "MERM1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43709", "id": "O43709" }, { "name": "PP3381", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43709", "id": "O43709" }, { "name": "WBSCR22", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43709", "id": "O43709" } ], "protein_names": [ { "name": "Probable 18S rRNA (guanine-N(7))-methyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43709" }, { "name": "2.1.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43709" }, { "name": "Bud site selection protein 23 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43709" }, { "name": "Metastasis-related methyltransferase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43709" }, { "name": "Williams-Beuren candidate region putative methyltransferase; Williams-Beuren syndrome chromosomal region 22 protein; metastasis-related methyltransferase 1; ribosome biogenesis methyltransferase WBSCR22; bud site selection protein 23 homolog; Williams-Beuren syndrome chromosome region 22; probable 18S rRNA (guanine-N(7))-methyltransferase; rRNA methyltransferase and ribosome maturation factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489", "id": "NP_001189489" }, { "name": "Williams-Beuren syndrome chromosomal region 22 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43709" }, { "name": "probable 18S rRNA (guanine-N(7))-methyltransferase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489", "id": "NP_001189489" }, { "name": "rRNA methyltransferase and ribosome maturation factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43709" } ], "function": [ { "annotation": "Cardiac mitochondrial function depends on BUD23 mediated ribosome programming. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001189489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489" }, { "database": "PubMed", "id": "31939735", "url": "https://glygen.org/publication/PubMed/31939735" } ] }, { "annotation": "Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome", "evidence": [ { "database": "RefSeq", "id": "NP_001189489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489" }, { "database": "PubMed", "id": "11978965", "url": "https://glygen.org/publication/PubMed/11978965" } ] }, { "annotation": "S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the N(7) position of a guanine in 18S rRNA (PubMed:25851604). Requires the methyltransferase adapter protein TRM112 for full rRNA methyltransferase activity (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). Important for biogenesis end export of the 40S ribosomal subunit independent on its methyltransferase activity (PubMed:24086612). Locus-specific steroid receptor coactivator. Potentiates transactivation by glucocorticoid (NR3C1), mineralocorticoid (NR3C2), androgen (AR) and progesterone (PGR) receptors (PubMed:24488492). Required for the maintenance of open chromatin at the TSC22D3/GILZ locus to facilitate NR3C1 loading on the response elements (PubMed:24488492). Required for maintenance of dimethylation on histone H3 'Lys-79' (H3K79me2), although direct histone methyltransferase activity is not observed in vitro (PubMed:24488492).", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709#function" }, { "database": "PubMed", "id": "24086612", "url": "https://glygen.org/publication/PubMed/24086612" }, { "database": "PubMed", "id": "25851604", "url": "https://glygen.org/publication/PubMed/25851604" }, { "database": "PubMed", "id": "24488492", "url": "https://glygen.org/publication/PubMed/24488492" } ] }, { "annotation": "This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001189489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489" } ] }, { "annotation": "WBSCR22 and TRMT112 synergistically suppress cell proliferation, invasion and tumorigenesis in pancreatic cancer via transcriptional regulation of ISG15.", "evidence": [ { "database": "RefSeq", "id": "NP_001189489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489" }, { "database": "PubMed", "id": "35088887", "url": "https://glygen.org/publication/PubMed/35088887" } ] }, { "annotation": "WBSCR22 confers cell survival and predicts poor prognosis in glioma.", "evidence": [ { "database": "RefSeq", "id": "NP_001189489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489" }, { "database": "PubMed", "id": "32380188", "url": "https://glygen.org/publication/PubMed/32380188" } ] } ], "disease": [ { "disease_id": "DOID:1928", "recommended_name": { "id": "DOID:1928", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1928", "name": "Williams-Beuren syndrome", "description": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23." }, "synonyms": [ { "id": "DOID:1928", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1928", "name": "Fanconi Schlesinger syndrome", "description": "" }, { "id": "MONDO:0008678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008678", "name": "Williams syndrome", "description": "A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)" }, { "id": "MONDO:0008678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008678", "name": "Fanconi Schlesinger syndrome", "description": "" }, { "id": "MONDO:0008678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008678", "name": "Williams syndrome", "description": "" }, { "id": "MONDO:0008678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008678", "name": "Williams-Beuren syndrome", "description": "" }, { "id": "MONDO:0008678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008678", "name": "Williams-Beuren syndrome (WBS)", "description": "" }, { "id": "MONDO:0008678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008678", "name": "deletion 7q11.23", "description": "" }, { "id": "MONDO:0008678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008678", "name": "monosomy 7q11.23", "description": "" }, { "id": "MONDO:0008678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008678", "name": "WBS", "description": "" }, { "id": "MONDO:0008678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008678", "name": "WMS", "description": "" }, { "id": "MONDO:0008678", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008678", "name": "chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb", "description": "" } ], "evidence": [ { "id": "194050", "database": "MIM", "url": "https://www.omim.org/entry/194050" } ] } ], "snv": [ { "evidence": [ { "id": "rs1308068785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1308068785" }, { "id": "rs1308068785", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1308068785#frequency_tab" }, { "id": "rs1308068785", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1308068785" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 132, "end_pos": 132, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAN->NAS).", "chr_id": "7", "chr_pos": "73690948", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N132", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O43709", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43709" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 209, "end_pos": 209, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "73693653", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S209", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs148856639", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148856639" }, { "id": "rs148856639", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs148856639" }, { "id": "rs148856639", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs148856639#frequency_tab" }, { "id": "rs148856639", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs148856639" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 234, "end_pos": 234, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NER->NES).", "chr_id": "7", "chr_pos": "73697605", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R234", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 180, "end_pos": 180, "sequence_org": "K", "sequence_mut": "R", "comment": "Resistant to down-regulation in response to TNF and IFNG combined treatment and effective coactivator for NR3C1, even in the presence of TNF and IFNG; when associated R-196.", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" }, { "database": "PubMed", 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"https://www.uniprot.org/uniprot/O43709-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEPRESVFTNERFPLRMSRRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF", "length": 281, "header": "sp|O43709-1|BUD23_HUMAN Isoform 1 of Probable 18S rRNA (guanine-N(7))-methyltransferase OS=Homo sapiens OX=9606 GN=BUD23 PE=1 SV=2 CANONICAL=O43709-1" }, "isoforms": [ { "isoform_ac": "O43709-1", "url": "", "sequence": { "sequence": "MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEPRESVFTNERFPLRMSRRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF", "length": 281, "header": "sp|O43709-1|BUD23_HUMAN Isoform 1 of Probable 18S rRNA (guanine-N(7))-methyltransferase OS=Homo sapiens OX=9606 GN=BUD23 PE=1 SV=2 CANONICAL=O43709-1" }, "locus": { "chromosome": "7", "start_pos": 73697883, "end_pos": 73683626, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000265758.7", "url": "https://www.ensembl.org/id/ENST00000265758.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000265758.3", "url": "https://www.ensembl.org/id/ENSP00000265758.3" } ] } }, { "isoform_ac": "O43709-2", "url": "", "sequence": { "sequence": "MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQVSPSATGCAGELGDSTGKLSWGSDKESYADWREKEETCTLVWPLMAHLMT", "length": 220, "header": "sp|O43709-2|BUD23_HUMAN Isoform 2 of Probable 18S rRNA (guanine-N(7))-methyltransferase OS=Homo sapiens OX=9606 GN=BUD23 PE=1 SV=2 CANONICAL=O43709-1" }, "locus": {} }, { "isoform_ac": "O43709-3", "url": "", "sequence": { "sequence": "MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDIGCGTGLSGSYLSDEGHYWVGLDISPAMLDEAVDREIEGDLLLGDMGQGIPFKPGTFDGCISISAVQWLCNANKKSENPAKRLYCFFASLFSVLVRGSRAVLQLYPENSEQLELITTQATKAGFSGGMVVDYPNSAKAKKFYLCLFSGPSTFIPEGLSENQDEVEPRESVFTNEREGGAFERRGIRGHQTRRFPLRMSRRGMVRKSRAWVLEKKERHRRQGREVRPDTQYTGRKRKPRF", "length": 298, "header": "sp|O43709-3|BUD23_HUMAN Isoform 3 of Probable 18S rRNA (guanine-N(7))-methyltransferase OS=Homo sapiens OX=9606 GN=BUD23 PE=1 SV=2 CANONICAL=O43709-1" }, "locus": {} } ], "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": 194, "start_aa": "Ser", "end_pos": 194, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser194", "evidence": [ { "id": "O43709", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43709" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [ { "start_pos": 240, "end_pos": 240, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O43709", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43709" } ], "site_lbl": "Ser240" } ], "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": "Characterization of 16 novel human genes showing high similarity to yeast sequences.", "journal": "Yeast", "date": "2001", "authors": "Stanchi F, Bertocco E, Toppo S, Dioguardi R, Simionati B, Cannata N, Zimbello R, Lanfranchi G, Valle G", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "reference": [ { "type": "PubMed", "id": "11124703", "url": "https://glygen.org/publication/PubMed/11124703" } ] }, { "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": "Current genetics", "date": "2002", "authors": "Eschrich D, Buchhaupt M, Kotter P, Entian KD", "evidence": [ { "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": "Cytogenet. Cell Genet.", "date": "2001", "authors": "Doll A, Grzeschik KH", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" }, { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" }, { "database": "RefSeq", "id": "NP_001189489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489" } ], "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": "Identification of additional transcripts in the Williams-Beuren syndrome critical region.", "journal": "Hum. 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"https://glygen.org/publication/PubMed/25525153" } ] }, { "title": "Yeast Kre33 and human NAT10 are conserved 18S rRNA cytosine acetyltransferases that modify tRNAs assisted by the adaptor Tan1/THUMPD1.", "journal": "Nucleic acids research", "date": "2015", "authors": "Sharma S, Langhendries JL, Watzinger P, Kotter P, Entian KD, Lafontaine DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "25653167", "url": "https://glygen.org/publication/PubMed/25653167" } ] }, { "title": "The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis.", "journal": "Molecular biology of the cell", "date": "2015", "authors": "Zorbas C, Nicolas E, Wacheul L, Huvelle E, Heurgue-Hamard V, Lafontaine DL", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" }, { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "25851604", "url": "https://glygen.org/publication/PubMed/25851604" } ] }, { "title": "Human nucleolar protein Nop52 (RRP1/NNP-1) is involved in site 2 cleavage in internal transcribed spacer 1 of pre-rRNAs at early stages of ribosome biogenesis.", "journal": "Nucleic acids research", "date": "2015", "authors": "Yoshikawa H, Ishikawa H, Izumikawa K, Miura Y, Hayano T, Isobe T, Simpson RJ, Takahashi N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "25969445", "url": "https://glygen.org/publication/PubMed/25969445" } ] }, { "title": "Modified Method of rRNA Structure Analysis Reveals Novel Characteristics of Box C/D RNA Analogues.", "journal": "Acta naturae", "date": "2015", "authors": "Filippova JA, Stepanov GA, Semenov DV, Koval OA, Kuligina EV, Rabinov IV, Richter VA", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "26085946", "url": "https://glygen.org/publication/PubMed/26085946" } ] }, { "title": "Eukaryotic rRNA Modification by Yeast 5-Methylcytosine-Methyltransferases and Human Proliferation-Associated Antigen p120.", "journal": "PloS one", "date": "2015", "authors": "Bourgeois G, Ney M, Gaspar I, Aigueperse C, Schaefer M, Kellner S, Helm M, Motorin Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "26196125", "url": "https://glygen.org/publication/PubMed/26196125" } ] }, { "title": "hUTP24 is essential for processing of the human rRNA precursor at site A1, but not at site A0.", "journal": "RNA biology", "date": "2015", "authors": "Tomecki R, Labno A, Drazkowska K, Cysewski D, Dziembowski A", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "26237581", "url": "https://glygen.org/publication/PubMed/26237581" } ] }, { "title": "Ribosome biogenesis factor Tsr3 is the aminocarboxypropyl transferase responsible for 18S rRNA hypermodification in yeast and humans.", "journal": "Nucleic acids research", "date": "2016", "authors": "Meyer B, Wurm JP, Sharma S, Immer C, Pogoryelov D, Kotter P, Lafontaine DL, Wohnert J, Entian KD", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "27084949", "url": "https://glygen.org/publication/PubMed/27084949" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43709", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43709" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Cardiac mitochondrial function depends on BUD23 mediated ribosome programming.", "journal": "eLife", "date": "2020", "authors": "Baxter M, Voronkov M, Poolman T, Galli G, Pinali C, Goosey L, Knight A, Krakowiak K, Maidstone R, Iqbal M, Zi M, Prehar S, Cartwright EJ, Gibbs J, Matthews LC, Adamson AD, Humphreys NE, Rebelo-Guiomar P, Minczuk M, Bechtold DA, Loudon A, Ray D", "evidence": [ { "database": "RefSeq", "id": "NP_001189489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489" } ], "reference": [ { "type": "PubMed", "id": "31939735", "url": "https://glygen.org/publication/PubMed/31939735" } ] }, { "title": "WBSCR22 confers cell survival and predicts poor prognosis in glioma.", "journal": "Brain research bulletin", "date": "2020", "authors": "Chi Y, Liang Z, Guo Y, Chen D, Lu L, Lin J, Qiu S, Wang X, Qiu E, Lin F, Chen J, Luo S, Zheng D, Xu X", "evidence": [ { "database": "RefSeq", "id": "NP_001189489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489" } ], "reference": [ { "type": "PubMed", "id": "32380188", "url": "https://glygen.org/publication/PubMed/32380188" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43709", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43709" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43709", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43709" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Human TRMT112-Methyltransferase Network Consists of Seven Partners Interacting with a Common Co-Factor.", "journal": "Int. J. Mol. Sci.", "date": "2021", "authors": "Brumele B, Mutso M, Telanne L, Ounap K, Spunde K, Abroi A, Kurg R", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "reference": [ { "type": "PubMed", "id": "34948388", "url": "https://glygen.org/publication/PubMed/34948388" } ] }, { "title": "WBSCR22 and TRMT112 synergistically suppress cell proliferation, invasion and tumorigenesis in pancreatic cancer via transcriptional regulation of ISG15.", "journal": "International journal of oncology", "date": "2022", "authors": "Khan AA, Huang H, Zhao Y, Li H, Pan R, Wang S, Liu X", "evidence": [ { "database": "RefSeq", "id": "NP_001189489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189489" } ], "reference": [ { "type": "PubMed", "id": "35088887", "url": "https://glygen.org/publication/PubMed/35088887" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43709", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43709" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Eukaryotic ribosomal RNA: the recent excitement in the nucleotide modification problem.", "journal": "Chromosoma", "date": "1997", "authors": "Maden BE, Hughes JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "9211966", "url": "https://glygen.org/publication/PubMed/9211966" } ] }, { "title": "Nucleolin functions in the first step of ribosomal RNA processing.", "journal": "The EMBO journal", "date": "1998", "authors": "Ginisty H, Amalric F, Bouvet P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6791226", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226" } ], "reference": [ { "type": "PubMed", "id": "9482744", "url": "https://glygen.org/publication/PubMed/9482744" } ] }, { "title": "SnoRNA-guided ribose methylation of rRNA: structural features of the guide RNA duplex influencing the extent of the reaction.", "journal": "Nucleic acids research", "date": "1998", "authors": "Cavaille J, Bachellerie JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-6790901", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901" } ], "reference": [ { "type": "PubMed", "id": "9512526", "url": "https://glygen.org/publication/PubMed/9512526" } ] } ], "pathway": [ { "id": "hsa:114049", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:114049", "resource": "KEGG Pathway" }, { "id": "R-HSA-6790901", "name": "rRNA modification in the nucleus and cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790901", "resource": "Reactome", "description": "rRNA modification in the nucleus and cytosol" }, { "id": "R-HSA-6791226", "name": "Major pathway of rRNA processing in the nucleolus and cytosol", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791226", "resource": "Reactome", "description": "Major pathway of rRNA processing in the nucleolus and cytosol" } ], "orthologs": [ { "uniprot_canonical_ac": "B1H275-1", "protein_name": "BUD23, rRNA methyltransferase and ribosome maturation factor", "gene_name": "Bud23", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASRSRRPEHSGPPELFYDQNEARKYVRNSRMIDIQTKMTERALELLCLPEGQPSYLLDIGCGSGLSGDYISEEGHYWVGIDISPAMLDAALDRDTEGDLLLGDMGQGVPFRPGSFDGCISISAVQWLCNANKKSDIPARRLYCFFSSLYSALVRGARAVLQLYPENSEQLELITTQATRAGFTGGVVVDFPNSAKAKKFYLCLFSGPSTSLPKGLTESQEADQASESAFTSERAPHKKARRDLVKKSREWVLEKKERRRRQGKEVRPDTQYTGRKRKPRF", "length": 281 }, "evidence": [ { "id": "45926936", "url": "http://www.informatics.jax.org/homology/45926936", "database": "MGI" }, { "id": "O43709", "url": "https://omabrowser.org/oma/group/O43709/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P25627-1", "protein_name": "18S rRNA (guanine(1575)-N(7))-methyltransferase", "gene_name": "BUD23", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MSRPEELAPPEIFYNDSEAHKYTGSTRVQHIQAKMTLRALELLNLQPCSFILDIGCGSGLSGEILTQEGDHVWCGLDISPSMLATGLSRELEGDLMLQDMGTGIPFRAGSFDAAISISAIQWLCNADTSYNDPKQRLMRFFNTLYAALKKGGKFVAQFYPKNDDQVDDILQSAKVAGFSGGLVVDDPESKKNKKYYLVLSSGAPPQGEEQVNLDGVTMDEENVNLKKQLRQRLKGGKDKESAKSFILRKKELMKRRGRKVAKDSKFTGRKRRHRF", "length": 275 }, "evidence": [ { "id": "O43709", "url": "https://omabrowser.org/oma/group/O43709/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q9CY21-1", "protein_name": "Probable 18S rRNA (guanine-N(7))-methyltransferase", "gene_name": "Bud23", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASRSRRPEHSGPPELFYDQNEARKYVRNSRMIDIQTKMTERALELLCLPEGQPSYLLDIGCGSGLSGDYISEEGHYWVGIDISPAMLDAALDRDTEGDLLLGDMGQGVPFRPGSFDGCISISAVQWLCNANKKSDVPARRLYCFFSSLYSALVRGARAVLQLYPENSEQLELITTQATRAGFTGGVVVDFPNSAKAKKFYLCLFSGPSTSLPKGLTESQDADQASESMFTSERAPHKKARRDLVKKSREWVLEKKERRRRQGKEVRPDTQYTGRKRKPRF", "length": 281 }, "evidence": [ { "id": "45926936", "url": "http://www.informatics.jax.org/homology/45926936", "database": "MGI" }, { "id": "O43709", "url": "https://omabrowser.org/oma/group/O43709/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VHW6-1", "protein_name": "RE22146p", "gene_name": "Dmel\\CG10903", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MARRPEHSAPPEIFYNDDEAKKYSTNTRIIEIQVEMAERALELLALPDDDESRLILDIGCGSGLSGSVLEDSEHMWIGIDISKSMLDIAVEREVAGDVILGDMGEGMPFKPGTFDGAISISALQWLCNADKSYHNPHKRLLKFFTTLFSCLTRTARAVFQFYPENSDQIEMVTSQAMKAGFYGGLVVDYPNSAKAKKYYLVLMTGGSAELPQALGSPEEERRVNYIKKRDACREARGKAPKKSRDWILAKKERRRRQGLETRPDTKYTARKRSGKF", "length": 276 }, "evidence": [ { "id": "O43709", "url": "https://omabrowser.org/oma/group/O43709/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "rRNA (guanine) methyltransferase activity", "id": "GO:0016435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016435", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "pmid": "" }, { "name": "methyltransferase activity", "id": "GO:0008168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "rRNA (guanine-N7)-methylation", "id": "GO:0070476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070476", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "pmid": "" }, { "name": "positive regulation of rRNA processing", "id": "GO:2000234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000234", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O43709", "url": "https://www.uniprot.org/uniprot/O43709" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "54584", "name": "", "equation": "a guanosine in 18S rRNA + S-adenosyl-L-methionine = an N(7)-methylguanosine in 18S rRNA + S-adenosyl-L-homocysteine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43709-1", "Q9CY21-1", "Q55DA6-1" ], "evidence": [ { "id": "54584", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54584" } ] }, { "id": "R-HSA-6790982", "name": "WBSCR22:TRMT112 methylates guanosine-1639 of 18S rRNA yielding 7-methylguanosine-1639", "equation": "", "summary": "The WBSCR22:TRMT112 complex, homolog of the Bud23:Trm112 complex in yeast (Ounap et al. 2013), methylates guanosine-1639 of 18S rRNA at the N(7) position of the guanine base (Haag et al. 2015, Zorbas et al. 2015). The WBSCR22:TRMT112 complex but not its methylase activity is required for efficient processing of precursor rRNA at site 2 and site 3 (Haag et al. 2015, Zorbas et al. 2015). Hemizygosity at the region containing WBSCR22 causes Williams-Beuren syndrome (Doll and Grzeschik 2001).", "cellular_location": "nucleoplasm", "input_participant_list": [ "R-HSA-8856933" ], "output_participant_list": [], "enzyme_list": [ "O43709-1" ], "evidence": [ { "id": "R-HSA-6790982", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6790982" } ] }, { "id": "R-HSA-6791223", "name": "18SE pre-rRNA in pre-40S particles is nucleolytically processed during translocation from the nucleus to the cytosol", "equation": "", "summary": "Exonuclease activity of the exosome (Preti et al. 2013) and endonuclease activity of NOB1 (inferred from yeast, Pertschy et al. 2009) process the 3' end of precursor rRNA (pre-rRNA) 18SE to yield mature 18S rRNA. During the processing, pre-rRNA 18SE is bound in the pre-40S ribosome subunit, which contains ribosomal proteins and processing factors such as NOB1 and BYSL. The pre-40S subunit is exported from the nucleus to the cytosol where processing factors are released and recycled back to the nucleus. The kinases RIOK1, RIOK2, CSNK1D and CSNK1E are associated with the pre-40S rRNA subunit in both the nucleus and cytosol and their kinase activity is required for recycling of processing factors back to the nucleus (Zemp et al. 2009, Zemp et al. 2014). RIOK1 and RIOK2 are also required for 18SE processing (Widmann et al. 2012, Zemp et al. 2009). RIOK3 (RIO3) is a cytosolic kinase that associates with the pre-40S ribosomal particle after export from the nucleus and is required for release of processing factors (Baumas et al. 2012).", "cellular_location": "cytosol, nucleoplasm", "input_participant_list": [ "R-HSA-6791522" ], "output_participant_list": [ "R-HSA-205877", "R-HSA-380315", "R-HSA-6791509", "R-HSA-6791518", "R-HSA-6791520", "R-HSA-6791524", "R-HSA-6791525", "R-HSA-6791533", "R-HSA-6791570" ], "enzyme_list": [ "O43709-1", "P48730-1", "Q9ULX3-1", "P23396-1", "P49674-1", "Q9BRS2-1", "O14730-1", "Q9BVS4-1" ], "evidence": [ { "id": "R-HSA-6791223", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6791223" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-205877", "participant_name": "CSNK1E [cytosol]", "crossref": [ { "id": "P49674", "database": "PRO", "url": "" }, { "id": "ENSP00000384074", "database": "Ensembl", "url": "" }, { "id": "ENSP00000380044", "database": "Ensembl", 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