BUD23 (BUD23 rRNA methyltransferase and ribosome maturation factor)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 114049 |
| Gene name | BUD23 rRNA methyltransferase and ribosome maturation factor |
| Gene symbol | BUD23 |
| Synonyms (NCBI Gene) |
HASJ4442HUSSY-3MERM1PP3381WBMTWBSCR22
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| Chromosome | 7 |
| Chromosome location | 7q11.23 |
| 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 m |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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O43709 | |||||||||||||||
| Protein name | 18S rRNA (guanine-N(7))-methyltransferase (EC 2.1.1.-) (Bud site selection protein 23 homolog) (Metastasis-related methyltransferase 1) (Williams-Beuren syndrome chromosomal region 22 protein) (rRNA methyltransferase and ribosome maturation factor) | |||||||||||||||
| Protein function | 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 | |||||||||||||||
| PDB | 6G4W , 7WTS , 7WTT , 7WTU , 7WTV , 7WTW | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Widely expressed, with high levels in heart, skeletal muscle and kidney. Detected at high levels in bronchial brushings and in normal lung (at protein level). In fetal lung tissue, expressed in the developing bronchial lumen lining cel | |||||||||||||||
| Sequence |
MASRGRRPEHGGPPELFYDETEARKYVRNSRMIDIQTRMAGRALELLYLPENKPCYLLDI |
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| Sequence length | 281 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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Related Genes
Genes most often co-reported with BUD23 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to BUD23 (see Related Genes above), that are NOT already directly curated for BUD23 itself -- a lead worth checking, not a confirmed association.
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