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POLA1 DNA polymerase alpha 1, catalytic subunit [ Homo sapiens (human) ]

Gene ID: 5422, updated on 19-Dec-2019

Summary

Official Symbol
POLA1provided by HGNC
Official Full Name
DNA polymerase alpha 1, catalytic subunitprovided by HGNC
Primary source
HGNC:HGNC:9173
See related
Ensembl:ENSG00000101868 MIM:312040
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NSX; POLA; p180; VEODS
Summary
This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in lymph node (RPKM 2.6), bone marrow (RPKM 2.2) and 25 other tissues See more
Orthologs

Genomic context

See POLA1 in Genome Data Viewer
Location:
Xp22.11-p21.3
Exon count:
42
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (24693877..24996986)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (24712038..25015103)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene phosphate cytidylyltransferase 1, choline, beta Neighboring gene PCYT1B antisense RNA 1 Neighboring gene ribosomal protein L23 pseudogene Neighboring gene small Cajal body-specific RNA 23 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 3 Neighboring gene VISTA enhancer hs118 Neighboring gene VISTA enhancer hs119 Neighboring gene VISTA enhancer hs121 Neighboring gene VISTA enhancer hs122 Neighboring gene VISTA enhancer hs145

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr downregulates POLA1 in HeLa cells within 12 hours of exposure PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686K1672

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
DNA replication origin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-directed DNA polymerase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-directed DNA polymerase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
nucleoside binding IEA
Inferred from Electronic Annotation
more info
 
nucleotide binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
purine nucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyrimidine nucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
NOT DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA replication initiation IDA
Inferred from Direct Assay
more info
PubMed 
DNA replication initiation TAS
Traceable Author Statement
more info
 
DNA replication, synthesis of RNA primer IDA
Inferred from Direct Assay
more info
PubMed 
DNA strand elongation involved in DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA synthesis involved in DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT DNA synthesis involved in UV-damage excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via nonhomologous end joining IMP
Inferred from Mutant Phenotype
more info
PubMed 
lagging strand elongation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lagging strand elongation IDA
Inferred from Direct Assay
more info
PubMed 
leading strand elongation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leading strand elongation IDA
Inferred from Direct Assay
more info
PubMed 
mitotic DNA replication initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
telomere maintenance via semi-conservative replication TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
alpha DNA polymerase:primase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alpha DNA polymerase:primase complex IDA
Inferred from Direct Assay
more info
PubMed 
alpha DNA polymerase:primase complex TAS
Traceable Author Statement
more info
PubMed 
colocalizes_with chromatin IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA polymerase alpha catalytic subunit
Names
DNA polymerase alpha catalytic subunit p180
polymerase (DNA directed), alpha 1, catalytic subunit
polymerase (DNA) alpha 1, catalytic subunit
polymerase (DNA-directed), alpha (70kD)
NP_001317289.1
NP_058633.2
XP_006724562.1
XP_011543842.1
XP_011543843.1
XP_016885083.1
XP_016885084.1
XP_016885085.1
XP_024308160.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_016798.2 RefSeqGene

    Range
    4972..308040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330360.2NP_001317289.1  DNA polymerase alpha catalytic subunit isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC002504, AC004655, AC079375, AC135280, KF459037
    Consensus CDS
    CCDS83462.1
    UniProtKB/TrEMBL
    A6NMQ1
    Related
    ENSP00000368358.3, ENST00000379068.7
    Conserved Domains (5) summary
    cd05776
    Location:541773
    DNA_polB_alpha_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase alpha, a family-B DNA polymerase
    cd05532
    Location:8381248
    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:561231
    pol2; DNA polymerase (pol2)
    pfam08996
    Location:12711461
    zf-DNA_Pol; DNA Polymerase alpha zinc finger
    pfam12254
    Location:41101
    DNA_pol_alpha_N; DNA polymerase alpha subunit p180 N terminal
  2. NM_016937.4NP_058633.2  DNA polymerase alpha catalytic subunit isoform 2

    See identical proteins and their annotated locations for NP_058633.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC004655, BM664024, BU508486, BX648513, CN364591, X06745
    Consensus CDS
    CCDS14214.1
    UniProtKB/Swiss-Prot
    P09884
    Related
    ENSP00000368349.3, ENST00000379059.7
    Conserved Domains (5) summary
    cd05776
    Location:535767
    DNA_polB_alpha_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase alpha, a family-B DNA polymerase
    cd05532
    Location:8321242
    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:501225
    pol2; DNA polymerase (pol2)
    pfam08996
    Location:12651455
    zf-DNA_Pol; DNA Polymerase alpha zinc finger
    pfam12254
    Location:3595
    DNA_pol_alpha_N; DNA polymerase alpha subunit p180 N terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    24693877..24996986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029595.2XP_016885084.1  DNA polymerase alpha catalytic subunit isoform X2

  2. XM_017029594.2XP_016885083.1  DNA polymerase alpha catalytic subunit isoform X1

  3. XM_017029596.1XP_016885085.1  DNA polymerase alpha catalytic subunit isoform X3

  4. XM_011545540.3XP_011543842.1  DNA polymerase alpha catalytic subunit isoform X4

    Conserved Domains (5) summary
    cd05776
    Location:541773
    DNA_polB_alpha_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase alpha, a family-B DNA polymerase
    cd05532
    Location:8381248
    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:561231
    pol2; DNA polymerase (pol2)
    pfam08996
    Location:12711349
    zf-DNA_Pol; DNA Polymerase alpha zinc finger
    pfam12254
    Location:41101
    DNA_pol_alpha_N; DNA polymerase alpha subunit p180 N terminal
  5. XM_011545541.2XP_011543843.1  DNA polymerase alpha catalytic subunit isoform X7

    Conserved Domains (5) summary
    cd05776
    Location:541773
    DNA_polB_alpha_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase alpha, a family-B DNA polymerase
    COG0417
    Location:615856
    PolB; DNA polymerase elongation subunit (family B) [Replication, recombination and repair]
    cl10023
    Location:838856
    POLBc; DNA polymerase type-B family catalytic domain. DNA-directed DNA polymerases elongate DNA by adding nucleotide triphosphate (dNTP) residues to the 5'-end of the growing chain of DNA. DNA-directed DNA polymerases are multifunctional with both synthetic ...
    pfam03104
    Location:377717
    DNA_pol_B_exo1; DNA polymerase family B, exonuclease domain
    pfam12254
    Location:41101
    DNA_pol_alpha_N; DNA polymerase alpha subunit p180 N terminal
  6. XM_024452392.1XP_024308160.1  DNA polymerase alpha catalytic subunit isoform X6

    Conserved Domains (1) summary
    TIGR00592
    Location:561187
    pol2; DNA polymerase (pol2)
  7. XM_006724499.2XP_006724562.1  DNA polymerase alpha catalytic subunit isoform X5

    Conserved Domains (4) summary
    cd05776
    Location:399631
    DNA_polB_alpha_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase alpha, a family-B DNA polymerase
    cd05532
    Location:6961106
    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:11089
    pol2; DNA polymerase (pol2)
    pfam08996
    Location:11291319
    zf-DNA_Pol; DNA Polymerase alpha zinc finger
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