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    Resf1 retroelement silencing factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 67246, updated on 14-Nov-2024

    Summary

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    Official Symbol
    Resf1provided by MGI
    Official Full Name
    retroelement silencing factor 1provided by MGI
    Primary source
    MGI:MGI:1914496
    See related
    Ensembl:ENSMUSG00000032712 AllianceGenome:MGI:1914496
    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
    GET; 2810474O19Rik; 6720435I21Rik
    Summary
    Enables histone methyltransferase binding activity. Involved in negative regulation of single stranded viral RNA replication via double stranded DNA intermediate and positive regulation of DNA methylation-dependent heterochromatin formation. Acts upstream of or within response to bacterium. Located in nucleus. Part of gamma-tubulin complex. Is expressed in genitourinary system; limb; and somite. Orthologous to human RESF1 (retroelement silencing factor 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 4.3), ovary adult (RPKM 3.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Resf1 in Genome Data Viewer
    Location:
    6 G3; 6 78.89 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (149210907..149237161)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (149309409..149335663)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene electron transfer flavoprotein beta subunit lysine methyltransferase Neighboring gene antagonist of mitotic exit network 1 Neighboring gene STARR-seq mESC enhancer starr_17859 Neighboring gene STARR-seq mESC enhancer starr_17860 Neighboring gene STARR-seq mESC enhancer starr_17861 Neighboring gene STARR-seq mESC enhancer starr_17862 Neighboring gene STARR-seq mESC enhancer starr_17863 Neighboring gene STARR-seq mESC enhancer starr_17864 Neighboring gene STARR-seq mESC enhancer starr_17865 Neighboring gene STARR-seq mESC enhancer starr_17866 Neighboring gene STARR-seq mESC enhancer starr_17867 Neighboring gene STARR-seq mESC enhancer starr_17868 Neighboring gene STARR-seq mESC enhancer starr_17869 Neighboring gene STARR-positive B cell enhancer ABC_E8835 Neighboring gene STARR-seq mESC enhancer starr_17870 Neighboring gene STARR-seq mESC enhancer starr_17871 Neighboring gene predicted gene, 38930 Neighboring gene nucleus accumbens associated 1, BEN and BTB (POZ) domain containing pseudogene

    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 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. Loss of Resf1 reduces the efficiency of embryonic stem cell self-renewal and germline entry. Vojtek M, et al. Life Sci Alliance, 2021 Dec. PMID 34607919, Free PMC Article
    2. Resf1 is a compound G4 quadruplex-associated tumor suppressor for triple negative breast cancer. Majocha MR, et al. PLoS Genet, 2024 May. PMID 38722825, Free PMC Article
    3. Conserved expression of a novel gene during gonadal development. Hudson QJ, et al. Dev Dyn, 2005 Jul. PMID 15861396
    4. A CRISPR knockout screen identifies SETDB1-target retroelement silencing factors in embryonic stem cells. Fukuda K, et al. Genome Res, 2018 Jun. PMID 29728365, Free PMC Article
    5. An Oct4-centered protein interaction network in embryonic stem cells. van den Berg DLC, et al. Cell Stem Cell, 2010 Apr 2. PMID 20362541, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Resf1 is a compound G4 quadruplex-associated tumor suppressor for triple negative breast cancer.
      Title: Resf1 is a compound G4 quadruplex-associated tumor suppressor for triple negative breast cancer.
    2. Loss of Resf1 reduces the efficiency of embryonic stem cell self-renewal and germline entry.
      Title: Loss of Resf1 reduces the efficiency of embryonic stem cell self-renewal and germline entry.
    3. We characterized two factors, MORC2A and RESF1, of which RESF1 is a novel molecule in retroelement silencing. Although both factors are recruited to repress provirus, their roles in repression are different. MORC2A appears to function dependent on repressive epigenetic modifications, while RESF1 regulates repressive epigenetic modifications associated with SETDB1
      Title: A CRISPR knockout screen identifies SETDB1-target retroelement silencing factors in embryonic stem cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1551

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables histone methyltransferase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone methyltransferase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within response to bacterium IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in transposable element silencing by heterochromatin formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    retroelement silencing factor 1
    Names
    likely orthologue of H. sapiens chromosome 12 open reading frame 35 (C12orf35)
    uncharacterized protein C12orf35 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_001289661.1 → NP_001276590.1  retroelement silencing factor 1

      See identical proteins and their annotated locations for NP_001276590.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC163647, AK020121, BC139436, DV644998
      Consensus CDS
      CCDS20717.1
      UniProtKB/Swiss-Prot
      Q5DTW7, Q5FWH0, Q7TNT1, Q8CCW3, Q8CCZ9, Q9CSA5, Q9CU82
      UniProtKB/TrEMBL
      A0A087WP74, B2KFD2
      Related
      ENSMUSP00000098328.5, ENSMUST00000100765.11
      Conserved Domains (1) summary
      pfam15395
      Location:452 → 1511
      DUF4617; Domain of unknown function (DUF4617)

    2. NM_001289662.1 → NP_001276591.1  retroelement silencing factor 1

      See identical proteins and their annotated locations for NP_001276591.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and lacks an exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC163647, AK020121, BC139435, DV644998
      Consensus CDS
      CCDS20717.1
      UniProtKB/Swiss-Prot
      Q5DTW7, Q5FWH0, Q7TNT1, Q8CCW3, Q8CCZ9, Q9CSA5, Q9CU82
      UniProtKB/TrEMBL
      A0A087WP74, B2KFD2
      Related
      ENSMUSP00000140026.2, ENSMUST00000189932.7
      Conserved Domains (1) summary
      pfam15395
      Location:452 → 1511
      DUF4617; Domain of unknown function (DUF4617)

    3. NM_026054.3 → NP_080330.1  retroelement silencing factor 1

      See identical proteins and their annotated locations for NP_080330.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein.
      Source sequence(s)
      AC163647, AK017376, AK020121, BC139436, DV644998
      Consensus CDS
      CCDS20717.1
      UniProtKB/Swiss-Prot
      Q5DTW7, Q5FWH0, Q7TNT1, Q8CCW3, Q8CCZ9, Q9CSA5, Q9CU82
      UniProtKB/TrEMBL
      A0A087WP74, B2KFD2
      Related
      ENSMUSP00000041180.7, ENSMUST00000046689.13
      Conserved Domains (1) summary
      pfam15395
      Location:452 → 1511
      DUF4617; Domain of unknown function (DUF4617)

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      149210907..149237161
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006507083.4 → XP_006507146.1  retroelement silencing factor 1 isoform X1

      See identical proteins and their annotated locations for XP_006507146.1

      UniProtKB/Swiss-Prot
      Q5DTW7, Q5FWH0, Q7TNT1, Q8CCW3, Q8CCZ9, Q9CSA5, Q9CU82
      UniProtKB/TrEMBL
      A0A087WP74, B2KFD2
      Conserved Domains (1) summary
      pfam15395
      Location:452 → 1511
      DUF4617; Domain of unknown function (DUF4617)

    2. XM_006507081.5 → XP_006507144.1  retroelement silencing factor 1 isoform X1

      See identical proteins and their annotated locations for XP_006507144.1

      UniProtKB/Swiss-Prot
      Q5DTW7, Q5FWH0, Q7TNT1, Q8CCW3, Q8CCZ9, Q9CSA5, Q9CU82
      UniProtKB/TrEMBL
      A0A087WP74, B2KFD2
      Conserved Domains (1) summary
      pfam15395
      Location:452 → 1511
      DUF4617; Domain of unknown function (DUF4617)

    3. XM_006507086.5 → XP_006507149.1  retroelement silencing factor 1 isoform X2

      See identical proteins and their annotated locations for XP_006507149.1

      UniProtKB/TrEMBL
      A0A087WP74
      Conserved Domains (1) summary
      pfam15395
      Location:452 → 1470
      DUF4617; Domain of unknown function (DUF4617)

    4. XM_011241622.3 → XP_011239924.1  retroelement silencing factor 1 isoform X1

      See identical proteins and their annotated locations for XP_011239924.1

      UniProtKB/Swiss-Prot
      Q5DTW7, Q5FWH0, Q7TNT1, Q8CCW3, Q8CCZ9, Q9CSA5, Q9CU82
      UniProtKB/TrEMBL
      A0A087WP74, B2KFD2
      Conserved Domains (1) summary
      pfam15395
      Location:452 → 1511
      DUF4617; Domain of unknown function (DUF4617)

    5. XM_036152270.1 → XP_036008163.1  retroelement silencing factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q5DTW7, Q5FWH0, Q7TNT1, Q8CCW3, Q8CCZ9, Q9CSA5, Q9CU82
      UniProtKB/TrEMBL
      A0A087WP74, B2KFD2
      Conserved Domains (1) summary
      pfam15395
      Location:452 → 1511
      DUF4617; Domain of unknown function (DUF4617)

    6. XM_006507084.4 → XP_006507147.1  retroelement silencing factor 1 isoform X1

      See identical proteins and their annotated locations for XP_006507147.1

      UniProtKB/Swiss-Prot
      Q5DTW7, Q5FWH0, Q7TNT1, Q8CCW3, Q8CCZ9, Q9CSA5, Q9CU82
      UniProtKB/TrEMBL
      A0A087WP74, B2KFD2
      Conserved Domains (1) summary
      pfam15395
      Location:452 → 1511
      DUF4617; Domain of unknown function (DUF4617)

    7. XM_030255554.2 → XP_030111414.1  retroelement silencing factor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q5DTW7, Q5FWH0, Q7TNT1, Q8CCW3, Q8CCZ9, Q9CSA5, Q9CU82
      UniProtKB/TrEMBL
      A0A087WP74, B2KFD2
      Related
      ENSMUSP00000139660.2, ENSMUST00000189837.2
      Conserved Domains (1) summary
      pfam15395
      Location:452 → 1511
      DUF4617; Domain of unknown function (DUF4617)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5DTW7.2 GenPept UniProtKB/Swiss-Prot:Q5DTW7

    Gene LinkOut

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

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