SMG5 (SMG5 nonsense mediated mRNA decay factor)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23381 |
| Gene name | SMG5 nonsense mediated mRNA decay factor |
| Gene symbol | SMG5 |
| Synonyms (NCBI Gene) |
EST1BLPTS-RP1LPTSRP1SMG-5
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| Chromosome | 1 |
| Chromosome location | 1q22 |
| Summary | SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008] |
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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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Q9UPR3 | |||||||||||||||||||||||||
| Protein name | Nonsense-mediated mRNA decay factor SMG5 (EST1-like protein B) (LPTS-RP1) (LPTS-interacting protein) (SMG-5 homolog) (hSMG-5) | |||||||||||||||||||||||||
| Protein function | Plays a role in nonsense-mediated mRNA decay. Does not have RNase activity by itself. Promotes dephosphorylation of UPF1. Together with SMG7 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to | |||||||||||||||||||||||||
| PDB | 2HWY | |||||||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12699629, ECO:0000269|PubMed:14636577}. | |||||||||||||||||||||||||
| Sequence |
MSQGPPTGESSEPEAKVLHTKRLYRAVVEAVHRLDLILCNKTAYQEVFKPENISLRNKLR |
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| Sequence length | 1016 | |||||||||||||||||||||||||
| 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 SMG5 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to SMG5 (see Related Genes above), that are NOT already directly curated for SMG5 itself -- a lead worth checking, not a confirmed association.
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