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    Rmi1 RecQ mediated genome instability 1 [ Mus musculus (house mouse) ]

    Gene ID: 74386, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rmi1provided by MGI
    Official Full Name
    RecQ mediated genome instability 1provided by MGI
    Primary source
    MGI:MGI:1921636
    See related
    Ensembl:ENSMUSG00000035367 AllianceGenome:MGI:1921636
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    4932432N11Rik
    Summary
    Predicted to enable nucleotide binding activity. Acts upstream of or within glucose homeostasis; reduction of food intake in response to dietary excess; and response to glucose. Predicted to be located in nucleoplasm. Predicted to be part of RecQ family helicase-topoisomerase III complex. Predicted to be active in nuclear body. Is expressed in embryo. Orthologous to human RMI1 (RecQ mediated genome instability 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 11.8), CNS E14 (RPKM 10.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rmi1 in Genome Data Viewer
    Location:
    13 B1; 13 31.05 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (58550062..58558963)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (58402248..58411149)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene Q-nucleotide N-glycosylase 1 Neighboring gene heterogeneous nuclear ribonucleoprotein K Neighboring gene microRNA 7-1 Neighboring gene STARR-positive B cell enhancer ABC_E8893 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:58504005-58504114 Neighboring gene STARR-seq mESC enhancer starr_34681 Neighboring gene STARR-positive B cell enhancer ABC_E11546 Neighboring gene predicted gene, 33875 Neighboring gene predicted gene, 47918 Neighboring gene STARR-seq mESC enhancer starr_34684 Neighboring gene predicted gene, 40966

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Glucose regulates RMI1 expression through the E2F pathways in adipose cells. Suwa A, et al. Endocrine, 2011 Aug. PMID 21432623
    2. RMI1 attenuates tumor development and is essential for early embryonic survival. Chen H, et al. Mol Carcinog, 2011 Feb. PMID 21229605, Free PMC Article
    3. RMI1 deficiency in mice protects from diet and genetic-induced obesity. Suwa A, et al. FEBS J, 2010 Feb. PMID 20050919
    4. Genome instability and embryonic developmental defects in RMI1 deficient mice. Guiraldelli MF, et al. DNA Repair (Amst), 2013 Oct. PMID 23900276, Free PMC Article
    5. Role of replication protein A in double holliday junction dissolution mediated by the BLM-Topo IIIα-RMI1-RMI2 protein complex. Xue X, et al. J Biol Chem, 2013 May 17. PMID 23543748, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. results demonstrate the importance of RMI1 in maintaining genome integrity and normal embryonic development
      Title: Genome instability and embryonic developmental defects in RMI1 deficient mice.
    2. Glucose regulates RMI1 expression through the E2F pathways in adipose cells.
      Title: Glucose regulates RMI1 expression through the E2F pathways in adipose cells.
    3. These results demonstrated a dual-role of RMI1 in embryonic development and tumor suppression.
      Title: RMI1 attenuates tumor development and is essential for early embryonic survival.
    4. results suggest that the regulation of energy balance by RMI1 is attributable to the regulation of food intake and E2F8 expression in adipose tissue.
      Title: RMI1 deficiency in mice protects from diet and genetic-induced obesity.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (2)  1 citation

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within reduction of food intake in response to dietary excess IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in resolution of DNA recombination intermediates ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in resolution of meiotic recombination intermediates IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within response to dietary excess IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within response to glucose IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nuclear body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear body IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    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
    RMI1, RecQ mediated genome instability 1, homolog

    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_001168248.2 → NP_001161720.1  recQ-mediated genome instability protein 1

      See identical proteins and their annotated locations for NP_001161720.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC154437
      Consensus CDS
      CCDS26571.1
      UniProtKB/Swiss-Prot
      Q8C560, Q8CI20, Q9D4G9
      Related
      ENSMUSP00000153621.2, ENSMUST00000225815.2
      Conserved Domains (2) summary
      pfam08585
      Location:14 → 204
      RMI1_N; RecQ mediated genome instability protein
      pfam16099
      Location:480 → 610
      RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold

    2. NM_028904.4 → NP_083180.3  recQ-mediated genome instability protein 1

      See identical proteins and their annotated locations for NP_083180.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC154437
      Consensus CDS
      CCDS26571.1
      UniProtKB/Swiss-Prot
      Q8C560, Q8CI20, Q9D4G9
      Related
      ENSMUSP00000041035.9, ENSMUST00000042450.10
      Conserved Domains (2) summary
      pfam08585
      Location:14 → 204
      RMI1_N; RecQ mediated genome instability protein
      pfam16099
      Location:480 → 610
      RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold

    RNA

    1. NR_031761.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC154437, AK079457

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      58550062..58558963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006517420.5 → XP_006517483.1  recQ-mediated genome instability protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006517483.1

      UniProtKB/Swiss-Prot
      Q8C560, Q8CI20, Q9D4G9
      Related
      ENSMUSP00000153050.2, ENSMUST00000224479.2
      Conserved Domains (2) summary
      pfam08585
      Location:14 → 204
      RMI1_N; RecQ mediated genome instability protein
      pfam16099
      Location:480 → 610
      RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold

    2. XM_036158198.1 → XP_036014091.1  recQ-mediated genome instability protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q8C560, Q8CI20, Q9D4G9
      Conserved Domains (2) summary
      pfam08585
      Location:14 → 204
      RMI1_N; RecQ mediated genome instability protein
      pfam16099
      Location:480 → 610
      RMI1_C; Recq-mediated genome instability protein 1, C-terminal OB-fold
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D4G9.1 GenPept UniProtKB/Swiss-Prot:Q9D4G9

    Gene LinkOut

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

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