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    Primpol primase and polymerase (DNA-directed) [ Mus musculus (house mouse) ]

    Gene ID: 408022, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Primpolprovided by MGI
    Official Full Name
    primase and polymerase (DNA-directed)provided by MGI
    Primary source
    MGI:MGI:3603756
    See related
    Ensembl:ENSMUSG00000038225 AllianceGenome:MGI:3603756
    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
    Ccdc111
    Summary
    Enables DNA primase activity. Involved in mitochondrial DNA repair and mitochondrial DNA replication. Predicted to be located in replication fork. Predicted to be active in mitochondrial matrix and nucleus. Is expressed in several structures, including aorta; brain; endocrine gland; genitourinary system; and trachea. Human ortholog(s) of this gene implicated in myopia. Orthologous to human PRIMPOL (primase and DNA directed polymerase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in limb E14.5 (RPKM 3.1), liver E14 (RPKM 3.0) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    8 B1.1; 8 26.39 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (47028614..47070282, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (46575579..46617227, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 30931 Neighboring gene STARR-seq mESC enhancer starr_21383 Neighboring gene STARR-seq mESC enhancer starr_21384 Neighboring gene STARR-positive B cell enhancer ABC_E2261 Neighboring gene acyl-CoA synthetase long-chain family member 1 Neighboring gene STARR-positive B cell enhancer ABC_E6635 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:47637172-47637355 Neighboring gene centromere protein U Neighboring gene STARR-positive B cell enhancer ABC_E1365 Neighboring gene predicted gene 45607 Neighboring gene caspase 3 Neighboring gene predicted gene, 31111

    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. PrimPol prevents APOBEC/AID family mediated DNA mutagenesis. Pilzecker B, et al. Nucleic Acids Res, 2016 Jun 2. PMID 26926109, Free PMC Article
    2. PrimPol is required for replication reinitiation after mtDNA damage. Torregrosa-Muñumer R, et al. Proc Natl Acad Sci U S A, 2017 Oct 24. PMID 29073063, Free PMC Article
    3. PrimPol bypasses UV photoproducts during eukaryotic chromosomal DNA replication. Bianchi J, et al. Mol Cell, 2013 Nov 21. PMID 24267451, Free PMC Article
    4. PrimPol, an archaic primase/polymerase operating in human cells. García-Gómez S, et al. Mol Cell, 2013 Nov 21. PMID 24207056, Free PMC Article
    5. ¹H NMR metabolic profiling of plasma reveals additional phenotypes in knockout mouse models. Probert F, et al. J Proteome Res, 2015 May 1. PMID 25849460

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC86034

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA primase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA primase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA primase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-directed DNA polymerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables manganese ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA replication, synthesis of primer IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in R-loop processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in error-prone translesion synthesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial DNA repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in replication fork processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in replication fork processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to UV IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to UV ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in translesion synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in translesion synthesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of DNA-directed RNA polymerase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in replication fork ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DNA-directed primase/polymerase protein
    Names
    coiled-coil domain-containing protein 111
    NP_001001184.1
    XP_036010045.1

    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_001001184.2 → NP_001001184.1  DNA-directed primase/polymerase protein

      See identical proteins and their annotated locations for NP_001001184.1

      Status: VALIDATED

      Source sequence(s)
      AC119267, AK030772, BC065112
      Consensus CDS
      CCDS40334.1
      UniProtKB/Swiss-Prot
      Q6P1E7, Q8BSR3
      Related
      ENSMUSP00000147574.2, ENSMUST00000211400.2
      Conserved Domains (2) summary
      pfam03121
      Location:384 → 448
      Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
      cd22256
      Location:456 → 534
      PrimPol_RBD; C-terminal RPA-binding domain (RBD) of DNA-directed primase/polymerase protein and similar proteins

    RNA

    1. NR_151680.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC119267, AK030772

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      47028614..47070282 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154152.1 → XP_036010045.1  DNA-directed primase/polymerase protein isoform X1

      UniProtKB/Swiss-Prot
      Q6P1E7, Q8BSR3
      Related
      ENSMUSP00000148093.2, ENSMUST00000209787.2
      Conserved Domains (2) summary
      pfam03121
      Location:384 → 448
      Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
      cd22256
      Location:456 → 534
      PrimPol_RBD; C-terminal RPA-binding domain (RBD) of DNA-directed primase/polymerase protein and similar proteins

    RNA

    1. XR_004934857.1 RNA Sequence

    2. XR_004934853.1 RNA Sequence

    3. XR_004934858.1 RNA Sequence

    4. XR_004934850.1 RNA Sequence

    5. XR_004934851.1 RNA Sequence

    6. XR_004934854.1 RNA Sequence

    7. XR_004934852.1 RNA Sequence

    8. XR_004934856.1 RNA Sequence

    9. XR_004934855.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1E7.1 GenPept UniProtKB/Swiss-Prot:Q6P1E7

    Gene LinkOut

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

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