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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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See Pola1 in Genome Data Viewer
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

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