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RMI1 RecQ mediated genome instability 1 [ Homo sapiens (human) ]

Gene ID: 80010, updated on 9-Dec-2018

Summary

Official Symbol
RMI1provided by HGNC
Official Full Name
RecQ mediated genome instability 1provided by HGNC
Primary source
HGNC:HGNC:25764
See related
Ensembl:ENSG00000178966 MIM:610404
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BLAP75; FAAP75; C9orf76
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]
Expression
Ubiquitous expression in testis (RPKM 5.7), lymph node (RPKM 5.0) and 25 other tissues See more
Orthologs

Genomic context

See RMI1 in Genome Data Viewer
Location:
9q21.32
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (83980359..84004074)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (86595321..86618989)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene chromosome 9 open reading frame 64 Neighboring gene heterogeneous nuclear ribonucleoprotein K Neighboring gene microRNA 7-1 Neighboring gene uncharacterized LOC101927575 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 33 Neighboring gene uncharacterized LOC105376116 Neighboring gene solute carrier family 28 member 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations.
NHGRI GWA Catalog
Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of RMI1 by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed
Knockdown of RecQ mediated genome instability 1, homolog (S. cerevisiae, RMI1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Bloom's syndrome complex, organism-specific biosystem (from KEGG)
    Bloom's syndrome complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • Bloom's syndrome complex, conserved biosystem (from KEGG)
    Bloom's syndrome complex, conserved biosystemStructural complex; Genetic information processing; Repair system
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle Checkpoints, organism-specific biosystem (from REACTOME)
    Cell Cycle Checkpoints, organism-specific biosystemA hallmark of the human cell cycle in normal somatic cells is its precision. This remarkable fidelity is achieved by a number of signal transduction pathways, known as checkpoints, which monitor cell...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • G2/M Checkpoints, organism-specific biosystem (from REACTOME)
    G2/M Checkpoints, organism-specific biosystemG2/M checkpoints include the checks for damaged DNA, unreplicated DNA, and checks that ensure that the genome is replicated once and only once per cell cycle. If cells pass these checkpoints, they f...
  • G2/M DNA damage checkpoint, organism-specific biosystem (from REACTOME)
    G2/M DNA damage checkpoint, organism-specific biosystemThroughout the cell cycle, the genome is constantly monitored for damage, resulting either from errors of replication, by-products of metabolism or through extrinsic sources such as ultra-violet or i...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
  • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
  • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
    Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
    Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
  • Processing of DNA double-strand break ends, organism-specific biosystem (from REACTOME)
    Processing of DNA double-strand break ends, organism-specific biosystemHomology directed repair (HDR) through homologous recombination (HRR) or single strand annealing (SSA) requires extensive resection of DNA double strand break (DSB) ends (Thompson and Limoli 2003, Ci...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Activity through Phosphorylation, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity through Phosphorylation, organism-specific biosystemPhosphorylation of TP53 (p53) at the N-terminal serine residues S15 and S20 plays a critical role in protein stabilization as phosphorylation at these sites interferes with binding of the ubiquitin l...
  • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
    Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
  • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
  • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
    Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12888

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA replication TAS
Traceable Author Statement
more info
 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
reduction of food intake in response to dietary excess IEA
Inferred from Electronic Annotation
more info
 
resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
RecQ helicase-Topo III complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
recQ-mediated genome instability protein 1
Names
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)

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001358291.1NP_001345220.1  recQ-mediated genome instability protein 1

    Status: VALIDATED

    Source sequence(s)
    AL354733, AL732446, BC039999
    Consensus CDS
    CCDS6669.1
    Conserved Domains (2) summary
    pfam08585
    Location:14204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489619
    RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold
  2. NM_001358292.1NP_001345221.1  recQ-mediated genome instability protein 1

    Status: VALIDATED

    Source sequence(s)
    AL354733, AL732446, BC039999
    Consensus CDS
    CCDS6669.1
    Conserved Domains (2) summary
    pfam08585
    Location:14204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489619
    RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold
  3. NM_001358293.1NP_001345222.1  recQ-mediated genome instability protein 1

    Status: VALIDATED

    Source sequence(s)
    AL354733, AL732446, BC039999
    Consensus CDS
    CCDS6669.1
    Conserved Domains (2) summary
    pfam08585
    Location:14204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489619
    RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold
  4. NM_001358294.1NP_001345223.1  recQ-mediated genome instability protein 1

    Status: VALIDATED

    Source sequence(s)
    AL354733, AL732446, BC039999, DA128213
    Consensus CDS
    CCDS6669.1
    Conserved Domains (2) summary
    pfam08585
    Location:14204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489619
    RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold
  5. NM_024945.2NP_079221.2  recQ-mediated genome instability protein 1

    See identical proteins and their annotated locations for NP_079221.2

    Status: VALIDATED

    Source sequence(s)
    AL732446, BC039999, BP327553, DN997105
    Consensus CDS
    CCDS6669.1
    UniProtKB/Swiss-Prot
    Q9H9A7
    Related
    ENSP00000317039.3, ENST00000325875.7
    Conserved Domains (2) summary
    pfam08585
    Location:14204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489619
    RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    83980359..84004074
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015140.1XP_016870629.1  recQ-mediated genome instability protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9H9A7
    Conserved Domains (2) summary
    pfam08585
    Location:14204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489619
    RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold
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