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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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