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

Gene ID: 80010, updated on 27-Nov-2024

Summary

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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. Involved in double-strand break repair via homologous recombination and resolution of DNA recombination intermediates. Located in nuclear body. Part of RecQ family helicase-topoisomerase III complex. [provided by Alliance of Genome Resources, Nov 2024]
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

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See RMI1 in Genome Data Viewer
Location:
9q21.32
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (83980359..84004074)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (96130640..96154361)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. RMI1 promotes DNA replication fork progression and recovery from replication fork stress. Yang J, et al. Mol Cell Biol, 2012 Aug. PMID 22645306, Free PMC Article
  2. Knockdown of RMI1 impairs DNA repair under DNA replication stress. Xu C, et al. Biochem Biophys Res Commun, 2017 Dec 9. PMID 29042194
  3. Genetic variant of the human homologous recombination-associated gene RMI1 (S455N) impacts the risk of AML/MDS and malignant melanoma. Broberg K, et al. Cancer Lett, 2007 Dec 8. PMID 17900800
  4. RMI1 contributes to DNA repair and to the tolerance to camptothecin. Fang L, et al. FASEB J, 2019 Apr. PMID 30676768
  5. Accumulation and Phosphorylation of RecQ-Mediated Genome Instability Protein 1 (RMI1) at Serine 284 and Serine 292 during Mitosis. Xu C, et al. Int J Mol Sci, 2015 Nov 4. PMID 26556339, Free PMC Article

See all (76) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA resection motor proteins.
    Title: The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA resection motor proteins.
  2. Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
    Title: Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
  3. The toposiomerase IIIalpha-RMI1-RMI2 complex orients human Bloom's syndrome helicase for efficient disruption of D-loops.
    Title: The toposiomerase IIIalpha-RMI1-RMI2 complex orients human Bloom's syndrome helicase for efficient disruption of D-loops.
  4. Duplex DNA and BLM regulate gate opening by the human TopoIIIalpha-RMI1-RMI2 complex.
    Title: Duplex DNA and BLM regulate gate opening by the human TopoIIIα-RMI1-RMI2 complex.
  5. Identification and external validation of a prognostic signature associated with DNA repair genes in gastric cancer.
    Title: Identification and external validation of a prognostic signature associated with DNA repair genes in gastric cancer.
  6. Identification and Bioinformatic Assessment of circRNA Expression After RMI1 Knockdown and Ionizing Radiation Exposure.
    Title: Identification and Bioinformatic Assessment of circRNA Expression After RMI1 Knockdown and Ionizing Radiation Exposure.
  7. The importance of RMI1 in response to DNA double-strand breaks.
    Title: RMI1 contributes to DNA repair and to the tolerance to camptothecin.
  8. RMI1 knockdown cells exhibit accumulation of broken DNAs after being released from hydroxyurea treatment. Moreover, we demonstrate that RMI1 facilitates the recovery from activated checkpoint and resuming the cell cycle after replicative stress.
    Title: Knockdown of RMI1 impairs DNA repair under DNA replication stress.
  9. RMI1 protein level does not change through G1, S and G2 phases, but significantly increases in M phase.
    Title: Accumulation and Phosphorylation of RecQ-Mediated Genome Instability Protein 1 (RMI1) at Serine 284 and Serine 292 during Mitosis.
  10. a model that maps all functionally important structural features for yeast Rmi1 and structure-prediction-based alignment with the recently established crystal structure of the N-terminus of human Rmi1, is proposed.
    Title: Structural Motifs Critical for In Vivo Function and Stability of the RecQ-Mediated Genome Instability Protein Rmi1.
Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
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

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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)

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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_001358291.2 → NP_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:14 → 204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489 → 619
    RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold

  2. NM_001358292.2 → NP_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:14 → 204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489 → 619
    RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold

  3. NM_001358293.2 → NP_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:14 → 204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489 → 619
    RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold

  4. NM_001358294.2 → NP_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:14 → 204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489 → 619
    RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold

  5. NM_024945.3 → NP_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:14 → 204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489 → 619
    RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_017015140.2 → XP_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:14 → 204
    RMI1_N; RecQ mediated genome instability protein
    pfam16099
    Location:489 → 619
    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_054363870.1 → XP_054219845.1  recQ-mediated genome instability protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H9A7.3 GenPept UniProtKB/Swiss-Prot:Q9H9A7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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