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

    Gene ID: 80010, updated on 9-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 5.7), lymph node (RPKM 5.0) and 25 other tissues See more
    Orthologs
    mouse all
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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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