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    Pola1 polymerase (DNA directed), alpha 1 [ Mus musculus (house mouse) ]

    Gene ID: 18968, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Pola1provided by MGI
    Official Full Name
    polymerase (DNA directed), alpha 1provided by MGI
    Primary source
    MGI:MGI:99660
    See related
    Ensembl:ENSMUSG00000006678 AllianceGenome:MGI:99660
    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
    Pola
    Summary
    Enables DNA-directed DNA polymerase activity. Involved in DNA replication, synthesis of RNA primer. Acts upstream of or within DNA replication. Located in nucleus. Part of alpha DNA polymerase:primase complex. Human ortholog(s) of this gene implicated in Van Esch-O'Driscoll syndrome and X-linked reticulate pigmentary disorder. Orthologous to human POLA1 (DNA polymerase alpha 1, catalytic subunit). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E11.5 (RPKM 4.9), liver E14 (RPKM 4.7) and 15 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X C3; X 41.06 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (92348372..92675993, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (93304766..93632387, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 23454 Neighboring gene aristaless related homeobox Neighboring gene predicted gene, 35587 Neighboring gene valyl-tRNA synthetase pseudogene Neighboring gene predicted gene, 23557 Neighboring gene STARR-seq mESC enhancer starr_47550 Neighboring gene STARR-seq mESC enhancer starr_47551 Neighboring gene predicted pseudogene 6985 Neighboring gene phosphate cytidylyltransferase 1, choline, beta isoform Neighboring gene predicted gene, 35641

    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. Aberrant DNA polymerase alpha is excluded from the nucleus by defective import and degradation in the nucleus. Eichinger CS, et al. J Biol Chem, 2009 Oct 30. PMID 19726690, Free PMC Article
    2. Anti-tumor effects of dehydroaltenusin, a specific inhibitor of mammalian DNA polymerase alpha. Maeda N, et al. Biochem Biophys Res Commun, 2007 Jan 12. PMID 17118336
    3. Alterations of DNA and chromatin structures at telomeres and genetic instability in mouse cells defective in DNA polymerase alpha. Nakamura M, et al. Mol Cell Biol, 2005 Dec. PMID 16314528, Free PMC Article
    4. The mouse p52 subunit of the transcription/DNA repair factor TFIIH is not located in the class III region of the H2 complex, but resides next to a G7a/Bat6 homologue in the telomeric part of the major histocompatibility complex. Snoek M, et al. Immunogenetics, 2000 Feb. PMID 10663580
    5. YAC clone contigs surrounding the Zfx and Pola loci on the mouse X chromosome. Hamvas RM, et al. Genomics, 1993 Jul. PMID 8406471

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The intrinsically disordered N-terminal region of mouse DNA polymerase alpha mediates its interaction with POT1a/b at telomeres.
      Title: The intrinsically disordered N-terminal region of mouse DNA polymerase alpha mediates its interaction with POT1a/b at telomeres.
    2. two mechanisms that prevent the nuclear expression of aberrant DNA polymerase alpha p180
      Title: Aberrant DNA polymerase alpha is excluded from the nucleus by defective import and degradation in the nucleus.
    3. Therefore, dehydroaltenusin could be of interest as not only a mammalian pol alpha-specific inhibitor, but also as a candidate drug for anti-cancer treatment.
      Title: Anti-tumor effects of dehydroaltenusin, a specific inhibitor of mammalian DNA polymerase alpha.
    4. DNA polymerase alpha is essential for genome-wide DNA replication, hypomorphic activity and leads to a rather specific spectrum of chromosomal abnormality.
      Title: Alterations of DNA and chromatin structures at telomeres and genetic instability in mouse cells defective in DNA polymerase alpha.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 

    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 DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables DNA replication origin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-directed DNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleotidyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables purine nucleotide binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables pyrimidine nucleotide binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    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
    involved_in DNA biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within DNA replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA replication initiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA replication initiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA replication, synthesis of primer IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in DNA replication, synthesis of primer ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA strand elongation involved in DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in DNA synthesis involved in DNA repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in double-strand break repair via nonhomologous end joining ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lagging strand elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lagging strand elongation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in leading strand elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in leading strand elongation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic DNA replication initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of type I interferon production ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of alpha DNA polymerase:primase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of alpha DNA polymerase:primase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of alpha DNA polymerase:primase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of alpha DNA polymerase:primase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear envelope ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DNA polymerase alpha catalytic subunit
    Names
    DNA polymerase alpha 1, 180 kDa
    DNA polymerase alpha catalytic subunit p180
    G7a/Bat6Hom
    polymerase, alpha 1
    NP_032918.1
    XP_006527968.1
    XP_036017749.1

    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_008892.2 → NP_032918.1  DNA polymerase alpha catalytic subunit

      See identical proteins and their annotated locations for NP_032918.1

      Status: VALIDATED

      Source sequence(s)
      BC138047, CJ133126, D17384
      Consensus CDS
      CCDS30272.1
      UniProtKB/Swiss-Prot
      P33609
      Related
      ENSMUSP00000006856.3, ENSMUST00000006856.3
      Conserved Domains (5) summary
      cd05776
      Location:539 → 771
      DNA_polB_alpha_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase alpha, a family-B DNA polymerase
      cd05532
      Location:836 → 1246
      POLBc_alpha; DNA polymerase type-B alpha subfamily catalytic domain. Three DNA-dependent DNA polymerases type B (alpha, delta, and epsilon) have been identified as essential for nuclear DNA replication in eukaryotes. DNA polymerase (Pol) alpha is almost exclusively ...
      TIGR00592
      Location:56 → 1229
      pol2; DNA polymerase (pol2)
      pfam08996
      Location:1269 → 1458
      zf-DNA_Pol; DNA Polymerase alpha zinc finger
      pfam12254
      Location:41 → 101
      DNA_pol_alpha_N; DNA polymerase alpha subunit p180 N terminal

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      92348372..92675993 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036161856.1 → XP_036017749.1  DNA polymerase alpha catalytic subunit isoform X2

      Conserved Domains (2) summary
      TIGR00592
      Location:1 → 1087
      pol2; DNA polymerase (pol2)
      pfam08996
      Location:1127 → 1316
      zf-DNA_Pol; DNA Polymerase alpha zinc finger

    2. XM_006527905.5 → XP_006527968.1  DNA polymerase alpha catalytic subunit isoform X1

      Conserved Domains (2) summary
      TIGR00592
      Location:56 → 1229
      pol2; DNA polymerase (pol2)
      pfam08996
      Location:1269 → 1386
      zf-DNA_Pol; DNA Polymerase alpha zinc finger

    RNA

    1. XR_003953001.1 RNA Sequence

    2. XR_004940329.1 RNA Sequence

    3. XR_878096.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P33609.2 GenPept UniProtKB/Swiss-Prot:P33609

    Gene LinkOut

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

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