Gene Gene information from NCBI Gene database.
Entrez ID 80010
Gene name RecQ mediated genome instability 1
Gene symbol RMI1
Synonyms (NCBI Gene)
BLAP75C9orf76FAAP75
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]
miRNA miRNA information provided by mirtarbase database.
502
miRTarBase ID miRNA Experiments Reference
MIRT024471 hsa-miR-215-5p Microarray 19074876
MIRT026840 hsa-miR-192-5p Microarray 19074876
MIRT030122 hsa-miR-26b-5p Microarray 19088304
MIRT041604 hsa-miR-193b-3p CLASH 23622248
MIRT458487 hsa-miR-101-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000712 Process Resolution of meiotic recombination intermediates IBA
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IDA 23543748
GO:0002021 Process Response to dietary excess IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610404 25764 ENSG00000178966
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF08585 RMI1_N 14 205 RecQ mediated genome instability protein Domain
PF16099 RMI1_C 488 623 Recq-mediated genome instability protein 1, C-terminal OB-fold Family
Sequence
MNVTSIALRAETWLLAAWHVKVPPMWLEACINWIQEENNNVNLSQAQMNKQVFEQWLLTD
LRDLEHPLLPDGILEIPKGELNGFYALQINSLVDVSQPAYSQIQKLRGKNTTNDLVTAEA
QVTPKPWEAKPSRMLMLQLTDGIVQIQGMEYQPIPILHSDLPPGTKILIYGNISFRLGVL
LLKPENVKVLGGEVDALLEEYAQEK
VLARLIGEPDLVVSVIPNNSNENIPRVTDVLDPAL
GPSDEELLASLDENDELTANNDTSSERCFTTGSSSNTIPTRQSSFEPEFVISPRPKEEPS
NLSIHVMDGELDDFSLEEALLLEETVQKEQMETKELQPLTFNRNADRSIERFSHNPNTTN
NFSLTCKNGNNNWSEKNVSEQMTNEDKSFGCPSVRDQNRSIFSVHCNVPLAHDFTNKEKN
LETDNKIKQTSSSDSHSLNNKILNREVVNYVQKRNSQISNENDCNLQSCSLRSSENSINL
SIAMDLYSPPFVYLSVLMASKPKEVTTVKVKAFIVTLTGNLSSSGGIWSITAKVSDGTAY
LDVDFVDEILTSLIGFSVPEMKQSKKDPLQYQKFLEGLQKCQRDLIDLCCLMTISFNPSL
SKAMVLALQDVNMEHLENLKKRL
NK
Sequence length 625
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Fanconi anemia pathway   HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Colorectal cancer Likely pathogenic rs764792608 RCV001543615
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Arthritis Rheumatoid Associate 36969166
★☆☆☆☆
Found in Text Mining only
Bloom Syndrome Associate 16595695, 21399624, 26556339, 33500419, 35115399, 35119917
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 33785812
★☆☆☆☆
Found in Text Mining only
Chromosome Disorders Associate 26556339
★☆☆☆☆
Found in Text Mining only
Fanconi Anemia Associate 34549727
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 16595695, 19432957
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Associate 33785812
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Associate 19432957
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Stimulate 34151839
★☆☆☆☆
Found in Text Mining only