• Gene id: 80010

Gene Summary

• Gene Symbol: RMI1   Gene   UCSC   Ensembl
• Aliases: BLAP75, C9orf76, FAAP75
• Gene name: RecQ mediated genome instability 1
• Alternate names: recQ-mediated genome instability protein 1, BLM-associated polypeptide, 75 kDa, BLM-associated protein 75 kDa, RMI1, RecQ mediated genome instability 1, homolog, homolog of yeast RecQ-mediated genome instability 1 (RMI1),
• Gene location: 9q21.32 (83980358: 84004073)     Exons: 6     NC_000009.12
• Gene summary(Entrez): 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]
• OMIM: 604415

Protein Summary

• Protein general information: Q9H9A7  
  • Name: RecQ mediated genome instability protein 1 (BLM associated protein of 75 kDa) (BLAP75) (FAAP75)
  • Length: 625  
  • Mass: 70144
• Sequence:

  MNVTSIALRAETWLLAAWHVKVPPMWLEACINWIQEENNNVNLSQAQMNKQVFEQWLLTDLRDLEHPLLPDGILE
  IPKGELNGFYALQINSLVDVSQPAYSQIQKLRGKNTTNDLVTAEAQVTPKPWEAKPSRMLMLQLTDGIVQIQGME
  YQPIPILHSDLPPGTKILIYGNISFRLGVLLLKPENVKVLGGEVDALLEEYAQEKVLARLIGEPDLVVSVIPNNS
  NENIPRVTDVLDPALGPSDEELLASLDENDELTANNDTSSERCFTTGSSSNTIPTRQSSFEPEFVISPRPKEEPS
  NLSIHVMDGELDDFSLEEALLLEETVQKEQMETKELQPLTFNRNADRSIERFSHNPNTTNNFSLTCKNGNNNWSE
  KNVSEQMTNEDKSFGCPSVRDQNRSIFSVHCNVPLAHDFTNKEKNLETDNKIKQTSSSDSHSLNNKILNREVVNY
  VQKRNSQISNENDCNLQSCSLRSSENSINLSIAMDLYSPPFVYLSVLMASKPKEVTTVKVKAFIVTLTGNLSSSG
  GIWSITAKVSDGTAYLDVDFVDEILTSLIGFSVPEMKQSKKDPLQYQKFLEGLQKCQRDLIDLCCLMTISFNPSL
  SKAMVLALQDVNMEHLENLKKRLNK

• Structural information:
  • Interpro: IPR033472  IPR032199  IPR013894  IPR042470  
  • PDB: 3MXN 3NBH 3NBI 4CGY 4CHT 4DAY
  • PDBsum: 3MXN 3NBH 3NBI 4CGY 4CHT 4DAY
  • DIP: 33324
  • STRING: ENSP00000317039
• Other Databases: GeneCards:  RMI1  Malacards:  RMI1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005654	nucleoplasm	IBA	cellular component
GO:0031422	RecQ family helicase-topoisomerase III complex	IBA	cellular component
GO:0016604	nuclear body	IBA	cellular component
GO:0000724	double-strand break repair via homologous recombination	IBA	biological process
GO:0000712	resolution of meiotic recombination intermediates	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002023	reduction of food intake in response to dietary excess	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0002021	response to dietary excess	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray