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

Summary

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 initiation and DNA replication, synthesis of 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, Dec 2024]
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

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11Bhm20 (e-PCR), detects polymorphism
- UniSTS:141619

AW321876 (e-PCR)
- UniSTS:181305

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

RH136596 (e-PCR)
- UniSTS:210576

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA binding	ISS Inferred from Sequence or Structural Similarity 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 DNA-directed DNA polymerase activity	ISS Inferred from Sequence or Structural Similarity 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 chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	ISS Inferred from Sequence or Structural Similarity 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 zinc ion binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in DNA biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
NOT involved_in DNA repair	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity 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 initiation	ISS Inferred from Sequence or Structural Similarity 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 replication, synthesis of primer	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA strand elongation involved in DNA replication	ISO Inferred from Sequence Orthology more info
involved_in DNA strand elongation involved in DNA replication	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA synthesis involved in DNA repair	ISO Inferred from Sequence Orthology more info
NOT involved_in DNA synthesis involved in UV-damage excision repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in double-strand break repair via nonhomologous end joining	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair via nonhomologous end joining	ISS Inferred from Sequence or Structural Similarity 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 lagging strand elongation	ISS Inferred from Sequence or Structural Similarity 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 leading strand elongation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic DNA replication initiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic DNA replication initiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of type I interferon production	ISO Inferred from Sequence Orthology more info
involved_in regulation of type I interferon production	ISS Inferred from Sequence or Structural Similarity 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 alpha DNA polymerase:primase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in chromatin	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear matrix	ISO Inferred from Sequence Orthology more info
located_in nuclear matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity 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

EC 2.7.7.7

XP_006527968.1

EC 2.7.7.7

XP_036017749.1

EC 2.7.7.7

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)

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

NC_000086.8 Reference GRCm39 C57BL/6J

Range

92348372..92675993 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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