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

Gene ID: 80010, updated on 7-Jan-2024

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; AllianceGenome:HGNC:25764
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
Predicted to enable nucleotide binding activity. Predicted to be involved in double-strand break repair via homologous recombination and resolution of meiotic recombination intermediates. Predicted to act upstream of or within glucose homeostasis; reduction of food intake in response to dietary excess; and response to glucose. Located in nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 5.7), lymph node (RPKM 5.0) and 25 other tissues See more
Orthologs
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Genomic context

See RMI1 in Genome Data Viewer
Location:
9q21.32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (83980359..84004074)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (96130640..96154361)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (86595274..86618989)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19981 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86595393-86595900 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:86595901-86596409 Neighboring gene HNRNPK antisense RNA 1 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 OCT4-NANOG hESC enhancer GRCh37_chr9:86766071-86767007 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:86787894-86788403 Neighboring gene Sharpr-MPRA regulatory region 11289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19983 Neighboring gene NANOG hESC enhancer GRCh37_chr9:86891619-86892170 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:86892303-86893502 Neighboring gene SLC28A3 regulatory antisense RNA 1 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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
involved_in double-strand break repair via homologous recombination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
involved_in reduction of food intake in response to dietary excess IEA
Inferred from Electronic Annotation
more info
 
involved_in resolution of DNA recombination intermediates IDA
Inferred from Direct Assay
more info
PubMed 
involved_in resolution of meiotic recombination intermediates IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in response to glucose IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of RecQ family helicase-topoisomerase III complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of RecQ family helicase-topoisomerase III complex IPI
Inferred from Physical Interaction
more info
PubMed 
is_active_in nuclear body IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 

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
    UniProtKB/Swiss-Prot
    Q05BX1, Q05CW3, Q5SQG8, Q5SQG9, Q6P1Q4, Q6PI89, Q7Z6L6, Q9H9A7
    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
    UniProtKB/Swiss-Prot
    Q05BX1, Q05CW3, Q5SQG8, Q5SQG9, Q6P1Q4, Q6PI89, Q7Z6L6, 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
  3. NM_001358293.2NP_001345222.1  recQ-mediated genome instability protein 1

    Status: VALIDATED

    Source sequence(s)
    AL354733, AL732446, BC039999
    Consensus CDS
    CCDS6669.1
    UniProtKB/Swiss-Prot
    Q05BX1, Q05CW3, Q5SQG8, Q5SQG9, Q6P1Q4, Q6PI89, Q7Z6L6, 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
  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
    UniProtKB/Swiss-Prot
    Q05BX1, Q05CW3, Q5SQG8, Q5SQG9, Q6P1Q4, Q6PI89, Q7Z6L6, 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
  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
    Q05BX1, Q05CW3, Q5SQG8, Q5SQG9, Q6P1Q4, Q6PI89, Q7Z6L6, 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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017015140.2XP_016870629.1  recQ-mediated genome instability protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q05BX1, Q05CW3, Q5SQG8, Q5SQG9, Q6P1Q4, Q6PI89, Q7Z6L6, 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    96130640..96154361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363870.1XP_054219845.1  recQ-mediated genome instability protein 1 isoform X1