Format

Send to:

Choose Destination

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

Gene ID: 80010, updated on 8-Jul-2021

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See RMI1 in Genome Data Viewer
Location:
9q21.32
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (83980359..84004074)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (86595274..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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association of lipid-lowering response to statins in combined study populations.
GeneReviews: Not available
Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH).
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available

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 PubChem

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
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA replication IEA
Inferred from Electronic Annotation
more info
 
involved_in double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
part_of RecQ family helicase-topoisomerase III complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in nuclear body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in 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)

NEW Try the new Transcript table

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_001358291.2NP_001345220.1  recQ-mediated genome instability protein 1

    Status: VALIDATED

    Source sequence(s)
    AL354733, AL732446, BC039999
    Consensus CDS
    CCDS6669.1
    Related
    ENSP00000402433.2, ENST00000445877.6
    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_001358292.2NP_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_001358293.2NP_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_001358294.2NP_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_024945.3NP_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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 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
Support Center