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    Gen1 GEN1, Holliday junction 5' flap endonuclease [ Mus musculus (house mouse) ]

    Gene ID: 209334, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Gen1provided by MGI
    Official Full Name
    GEN1, Holliday junction 5' flap endonucleaseprovided by MGI
    Primary source
    MGI:MGI:2443149
    See related
    Ensembl:ENSMUSG00000051235 AllianceGenome:MGI:2443149
    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
    5830483C08Rik
    Summary
    Predicted to enable several functions, including DNA endonuclease activity; magnesium ion binding activity; and protein homodimerization activity. Predicted to be involved in DNA metabolic process and regulation of cell cycle process. Predicted to be located in centrosome. Is expressed in embryo; metanephros; nephric duct; and neural tube. Orthologous to human GEN1 (GEN1 Holliday junction 5' flap endonuclease). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver E14 (RPKM 2.5), CNS E11.5 (RPKM 2.1) and 12 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gen1 in Genome Data Viewer
    Location:
    12 A1.1; 12 5.58 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (11288929..11316030, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (11238928..11266029, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 9530020I12 gene Neighboring gene STARR-seq mESC enhancer starr_31537 Neighboring gene STARR-seq mESC enhancer starr_31538 Neighboring gene STARR-positive B cell enhancer ABC_E7120 Neighboring gene mesogenin 1 Neighboring gene STARR-positive B cell enhancer ABC_E8479 Neighboring gene structural maintenance of chromosomes 6 Neighboring gene STARR-seq mESC enhancer starr_31540 Neighboring gene microRNA 7675 Neighboring gene visinin-like 1 Neighboring gene STARR-seq mESC enhancer starr_31541

    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. Expression and localization of GEN1 in mouse mammary epithelial cells. Sun L, et al. J Biochem Mol Toxicol, 2014 Oct. PMID 24980922
    2. Disruption of Gen1 causes ectopic budding and kidney hypoplasia in mice. Li Y, et al. Biochem Biophys Res Commun, 2022 Jan 22. PMID 34922199
    3. Gen1 and Eme1 Play Redundant Roles in DNA Repair and Meiotic Recombination in Mice. Wang X, et al. DNA Cell Biol, 2016 Oct. PMID 27383418, Free PMC Article
    4. Inhibition of MAPK/ERK pathway activation rescues congenital anomalies of the kidney and urinary tract (CAKUT) in Robo2(PB/+) Gen1(PB/+) mice. Du X, et al. Biochem Biophys Res Commun, 2023 Apr 23. PMID 36870240
    5. Gen1 mutation caused kidney hypoplasia and defective ureter-bladder connections in mice. Wang X, et al. Int J Biol Sci, 2020. PMID 32226308, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inhibition of MAPK/ERK pathway activation rescues congenital anomalies of the kidney and urinary tract (CAKUT) in Robo2[PB/+] Gen1[PB/+] mice.
      Title: Inhibition of MAPK/ERK pathway activation rescues congenital anomalies of the kidney and urinary tract (CAKUT) in Robo2(PB/+) Gen1(PB/+) mice.
    2. Disruption of Gen1 causes ectopic budding and kidney hypoplasia in mice.
      Title: Disruption of Gen1 causes ectopic budding and kidney hypoplasia in mice.
    3. Gen1 mutation caused kidney hypoplasia and defective ureter-bladder connections in mice.
      Title: Gen1 mutation caused kidney hypoplasia and defective ureter-bladder connections in mice.
    4. Results revealed an unidentified role of GEN1 in kidney development and suggested its contribution to congenital anomalies of the kidney and urinary tract.
      Title: Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice.
    5. Study found that a Gen1 mutation alone did not affect DNA repair or meiotic recombination in mice; it caused synthetic lethality when combined with Eme1 mutations at an early embryonic stage. Also, combination of Gen1 and Eme1 mutations makes embryonic fibroblasts more sensitive to DNA damage & mice less capable of meiotic recombination. These results indicate that Gen1 and Eme1 are functionally redundant in mice.
      Title: Gen1 and Eme1 Play Redundant Roles in DNA Repair and Meiotic Recombination in Mice.
    6. The results suggest that GEN1 may play an important role in the development of mammary gland.
      Title: Expression and localization of GEN1 in mouse mammary epithelial cells.
    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 (1) 
    • Targeted (1)  1 citation
    • Transposon induced (1)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC115970, 5830483C08Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 5'-flap endonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 5'-flap endonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 5'-flap endonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables crossover junction DNA endonuclease activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables crossover junction DNA endonuclease activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables four-way junction DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables four-way junction DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables four-way junction DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables magnesium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables magnesium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in double-strand break repair via homologous recombination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of mitotic cell cycle spindle assembly checkpoint ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of centrosome duplication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of centrosome duplication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in replication fork processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in replication fork processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in resolution of DNA recombination intermediates ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in resolution of DNA recombination intermediates ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in resolution of mitotic recombination intermediates ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in resolution of mitotic recombination intermediates ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    flap endonuclease GEN homolog 1
    Names
    Gen homolog 1, endonuclease

    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_177331.5 → NP_796305.3  flap endonuclease GEN homolog 1

      See identical proteins and their annotated locations for NP_796305.3

      Status: VALIDATED

      Source sequence(s)
      AC104880, BC090653
      Consensus CDS
      CCDS36403.1
      UniProtKB/Swiss-Prot
      B2RR04, Q3TYY2, Q5CZW6, Q8BMI4, Q8C0J0
      UniProtKB/TrEMBL
      A0A1W2P6M6
      Related
      ENSMUSP00000132098.2, ENSMUST00000166117.4
      Conserved Domains (3) summary
      cd09869
      Location:2 → 206
      PIN_GEN1; FEN-like PIN domains of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      pfam18704
      Location:397 → 457
      Chromo_2; Chromatin organization modifier domain 2
      cl22433
      Location:195 → 337
      H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination

    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_000078.7 Reference GRCm39 C57BL/6J

      Range
      11288929..11316030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017315010.3 → XP_017170499.1  flap endonuclease GEN homolog 1 isoform X5

      Conserved Domains (1) summary
      pfam18704
      Location:2 → 20
      Chromo_2; Chromatin organization modifier domain 2

    2. XM_006515041.3 → XP_006515104.1  flap endonuclease GEN homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006515104.1

      UniProtKB/Swiss-Prot
      B2RR04, Q3TYY2, Q5CZW6, Q8BMI4, Q8C0J0
      UniProtKB/TrEMBL
      A0A1W2P6M6
      Conserved Domains (3) summary
      cd09869
      Location:2 → 206
      PIN_GEN1; FEN-like PIN domains of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      pfam18704
      Location:397 → 457
      Chromo_2; Chromatin organization modifier domain 2
      cl22433
      Location:195 → 337
      H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination

    3. XM_006515040.4 → XP_006515103.1  flap endonuclease GEN homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006515103.1

      UniProtKB/Swiss-Prot
      B2RR04, Q3TYY2, Q5CZW6, Q8BMI4, Q8C0J0
      UniProtKB/TrEMBL
      A0A1W2P6M6
      Conserved Domains (3) summary
      cd09869
      Location:2 → 206
      PIN_GEN1; FEN-like PIN domains of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      pfam18704
      Location:397 → 457
      Chromo_2; Chromatin organization modifier domain 2
      cl22433
      Location:195 → 337
      H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination

    4. XM_006515042.4 → XP_006515105.1  flap endonuclease GEN homolog 1 isoform X2

      UniProtKB/TrEMBL
      A0A1W2P6M6
      Related
      ENSMUSP00000151310.2, ENSMUST00000218487.2
      Conserved Domains (3) summary
      cd09869
      Location:1 → 141
      PIN_GEN1; FEN-like PIN domains of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      pfam18704
      Location:332 → 392
      Chromo_2; Chromatin organization modifier domain 2
      cl22433
      Location:130 → 272
      H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination

    5. XM_011243852.3 → XP_011242154.1  flap endonuclease GEN homolog 1 isoform X4

      UniProtKB/TrEMBL
      A0A1W2P6M6
      Conserved Domains (3) summary
      pfam18704
      Location:296 → 356
      Chromo_2; Chromatin organization modifier domain 2
      cl22433
      Location:94 → 236
      H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination
      cl28905
      Location:16 → 105
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    6. XM_011243851.3 → XP_011242153.1  flap endonuclease GEN homolog 1 isoform X3

      UniProtKB/TrEMBL
      A0A1W2P6M6
      Conserved Domains (3) summary
      pfam18704
      Location:318 → 378
      Chromo_2; Chromatin organization modifier domain 2
      cl22433
      Location:116 → 258
      H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination
      cl28905
      Location:2 → 127
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    7. XM_006515039.4 → XP_006515102.1  flap endonuclease GEN homolog 1 isoform X1

      See identical proteins and their annotated locations for XP_006515102.1

      UniProtKB/Swiss-Prot
      B2RR04, Q3TYY2, Q5CZW6, Q8BMI4, Q8C0J0
      UniProtKB/TrEMBL
      A0A1W2P6M6
      Conserved Domains (3) summary
      cd09869
      Location:2 → 206
      PIN_GEN1; FEN-like PIN domains of Gap Endonuclease 1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
      pfam18704
      Location:397 → 457
      Chromo_2; Chromatin organization modifier domain 2
      cl22433
      Location:195 → 337
      H3TH_StructSpec-5'-nucleases; H3TH domains of structure-specific 5' nucleases (or flap endonuclease-1-like) involved in DNA replication, repair, and recombination
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BMI4.2 GenPept UniProtKB/Swiss-Prot:Q8BMI4

    Gene LinkOut

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