NSUN5 (NOP2/Sun RNA methyltransferase 5)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 55695 |
| Gene name | NOP2/Sun RNA methyltransferase 5 |
| Gene symbol | NSUN5 |
| Synonyms (NCBI Gene) |
NOL1NOL1RNSUN5AWBSCR20WBSCR20Ap120p120(NOL1)
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| Chromosome | 7 |
| Chromosome location | 7q11.23 |
| Summary | This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder |
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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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Q96P11 | ||||||||||
| Protein name | 28S rRNA (cytosine-C(5))-methyltransferase (EC 2.1.1.-) (NOL1-related protein) (NOL1R) (NOL1/NOP2/Sun domain family member 5) (Williams-Beuren syndrome chromosomal region 20A protein) | ||||||||||
| Protein function | S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3782 (m5C3782) in 28S rRNA (PubMed:23913415, PubMed:31428936, PubMed:31722427). m5C3782 promotes protein translation without affecting | ||||||||||
| PDB | 2B9E | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous (PubMed:11978965, PubMed:12073013). Detected in placenta, heart and skeletal muscle (PubMed:11978965, PubMed:12073013). {ECO:0000269|PubMed:11978965, ECO:0000269|PubMed:12073013}. | ||||||||||
| Sequence |
MGLYAAAAGVLAGVESRQGSIKGLVYSSNFQNVKQLYALVCETQRYSAVLDAVIASAGLL |
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| Sequence length | 429 | ||||||||||
| Interactions | View interactions | ||||||||||
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Related Genes
Genes most often co-reported with NSUN5 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to NSUN5 (see Related Genes above), that are NOT already directly curated for NSUN5 itself -- a lead worth checking, not a confirmed association.
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