RMI1 (RecQ mediated genome instability 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 80010 |
| Gene name | RecQ mediated genome instability 1 |
| Gene symbol | RMI1 |
| Synonyms (NCBI Gene) |
BLAP75C9orf76FAAP75
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| Chromosome | 9 |
| Chromosome location | 9q21.32 |
| Summary | RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008] |
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miRNA
miRNA information provided by mirtarbase database.
502
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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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Q9H9A7 | |||||||||||||||
| Protein name | RecQ-mediated genome instability protein 1 (BLM-associated protein of 75 kDa) (BLAP75) (FAAP75) | |||||||||||||||
| Protein function | Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and h | |||||||||||||||
| PDB | 3MXN , 3NBH , 3NBI , 4CGY , 4CHT , 4DAY , 7XUV | |||||||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 625 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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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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