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

Gene ID: 5422, updated on 7-Aug-2014
Official Symbol
POLA1provided by HGNC
Official Full Name
polymerase (DNA directed), alpha 1, catalytic subunitprovided by HGNC
Primary source
HGNC:9173
See related
Ensembl:ENSG00000101868; HPRD:02416; MIM:312040; Vega:OTTHUMG00000021277
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
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]
See POLA1 in Epigenomics, MapViewer
Location:
Xp22.1-p21.3
Exon count:
37
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (24693921..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 histone H2B type 1-P-like 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 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) pseudogene Neighboring gene aristaless related homeobox

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Activation of the pre-replicative complex, organism-specific biosystem (from REACTOME)
    Activation of the pre-replicative complex, organism-specific biosystemIn S. cerevisiae, two ORC subunits, Orc1 and Orc5, both bind ATP, and Orc1 in addition has ATPase activity. Both ATP binding and ATP hydrolysis appear to be essential functions in vivo. ATP binding b...
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
    Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
  • DNA Replication, organism-specific biosystem (from WikiPathways)
    DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
  • DNA Replication, organism-specific biosystem (from REACTOME)
    DNA Replication, organism-specific biosystemStudies in the past decade have suggested that the basic mechanism of DNA replication initiation is conserved in all kingdoms of life. Initiation in unicellular eukaryotes, in particular Saccharomyce...
  • DNA Replication Pre-Initiation, organism-specific biosystem (from REACTOME)
    DNA Replication Pre-Initiation, organism-specific biosystemAlthough, DNA replication occurs in the S phase of the cell cycle, the formation of the DNA replication pre-initiation complex begins during G1 phase.
  • DNA polymerase alpha / primase complex, organism-specific biosystem (from KEGG)
    DNA polymerase alpha / primase complex, organism-specific biosystemStructural complex; Genetic information processing; DNA polymerase
  • DNA polymerase alpha / primase complex, conserved biosystem (from KEGG)
    DNA polymerase alpha / primase complex, conserved biosystemStructural complex; Genetic information processing; DNA polymerase
  • DNA replication, organism-specific biosystem (from KEGG)
    DNA replication, organism-specific biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...
  • DNA replication, conserved biosystem (from KEGG)
    DNA replication, conserved biosystemA complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (D...
  • DNA replication initiation, organism-specific biosystem (from REACTOME)
    DNA replication initiation, organism-specific biosystemDNA polymerases are not capable of de novo DNA synthesis and require synthesis of a primer, usually by a DNA-dependent RNA polymerase (primase) to begin DNA synthesis. In eukaryotic cells, the primer...
  • DNA strand elongation, organism-specific biosystem (from REACTOME)
    DNA strand elongation, organism-specific biosystemAccurate and efficient genome duplication requires coordinated processes to replicate two template strands at eucaryotic replication forks. Knowledge of the fundamental reactions involved in replicat...
  • E2F mediated regulation of DNA replication, organism-specific biosystem (from REACTOME)
    E2F mediated regulation of DNA replication, organism-specific biosystemProgression through G1 and G1 to S-phase transition that initiates DNA synthesis involve many complexes that are regulated by RB1:E2F pathway. RB1:E2F pathway plays a key role in gene expression regu...
  • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    E2F transcription factor network, organism-specific biosystem
    E2F transcription factor network
  • Extension of Telomeres, organism-specific biosystem (from REACTOME)
    Extension of Telomeres, organism-specific biosystemTelomerase acts as reverse transcriptase in the elongation of telomeres (Smogorzewska and de Lange 2004).
  • G1/S Transition, organism-specific biosystem (from REACTOME)
    G1/S Transition, organism-specific biosystemCyclin E - Cdk2 complexes control the transition from G1 into S-phase. In this case, the binding of p21Cip1/Waf1 or p27kip1 is inhibitory. Important substrates for Cyclin E - Cdk2 complexes include p...
  • G1/S-Specific Transcription, organism-specific biosystem (from REACTOME)
    G1/S-Specific Transcription, organism-specific biosystemThe E2F family of transcription factors regulate the transition from the G1 to the S phase in the cell cycle. E2F activity is regulated by members of the retinoblastoma protein (pRb) family, resultin...
  • Inhibition of replication initiation of damaged DNA by RB1/E2F1, organism-specific biosystem (from REACTOME)
    Inhibition of replication initiation of damaged DNA by RB1/E2F1, organism-specific biosystem
    Inhibition of replication initiation of damaged DNA by RB1/E2F1
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Lagging Strand Synthesis, organism-specific biosystem (from REACTOME)
    Lagging Strand Synthesis, organism-specific biosystemDue to the antiparallel nature of DNA, DNA polymerization is unidirectional, and one strand is synthesized discontinuously. This strand is called the lagging strand. Although the polymerase switching...
  • Leading Strand Synthesis, organism-specific biosystem (from REACTOME)
    Leading Strand Synthesis, organism-specific biosystemThe processive complex is responsible for synthesizing at least 5-10 kb of DNA in a continuous manner during leading strand synthesis. The incorporation of nucleotides by pol delta is quite accurate....
  • M/G1 Transition, organism-specific biosystem (from REACTOME)
    M/G1 Transition, organism-specific biosystemFinally, progression out of mitosis and division of the cell into two daughters (cytokinesis) requires the inactivation of Cyclin B - Cdc2 by ubiquitin-dependent proteolysis of Cyclin A and B, which ...
  • Mitotic G1-G1/S phases, organism-specific biosystem (from REACTOME)
    Mitotic G1-G1/S phases, organism-specific biosystem
    Mitotic G1-G1/S phases
  • Nucleotide Metabolism, organism-specific biosystem (from WikiPathways)
    Nucleotide Metabolism, organism-specific biosystemThe pathway outlined above focuses on purine metabolism and in particular that of guanine metabolism.
  • Polymerase switching, organism-specific biosystem (from REACTOME)
    Polymerase switching, organism-specific biosystemAfter the primers are synthesized, Replication Factor C binds to the 3'-end of the initiator DNA to trigger polymerase switching. The non-processive nature of pol alpha catalytic activity and the tig...
  • Polymerase switching on the C-strand of the telomere, organism-specific biosystem (from REACTOME)
    Polymerase switching on the C-strand of the telomere, organism-specific biosystemAfter the primers are synthesized on the G-Rich strand, Replication Factor C binds to the 3'-end of the initiator DNA to trigger polymerase switching. The non-processive nature of pol alpha catalytic...
  • Processive synthesis on the lagging strand, organism-specific biosystem (from REACTOME)
    Processive synthesis on the lagging strand, organism-specific biosystemThe key event that allows the processive synthesis on the lagging strand, is polymerase switching from pol alpha to pol delta, as on the leading strand. However, the processive synthesis on the laggi...
  • Purine metabolism, organism-specific biosystem (from KEGG)
    Purine metabolism, organism-specific biosystem
    Purine metabolism
  • Purine metabolism, conserved biosystem (from KEGG)
    Purine metabolism, conserved biosystem
    Purine metabolism
  • Pyrimidine metabolism, organism-specific biosystem (from KEGG)
    Pyrimidine metabolism, organism-specific biosystem
    Pyrimidine metabolism
  • Pyrimidine metabolism, conserved biosystem (from KEGG)
    Pyrimidine metabolism, conserved biosystem
    Pyrimidine metabolism
  • RB in Cancer, organism-specific biosystem (from WikiPathways)
    RB in Cancer, organism-specific biosystem
    RB in Cancer
  • Removal of the Flap Intermediate, organism-specific biosystem (from REACTOME)
    Removal of the Flap Intermediate, organism-specific biosystemTwo endonucleases, Dna2 and flap endonuclease 1 (FEN-1), are responsible for resolving the nascent flap structure (Tsurimoto and Stillman 1991). The Dna2 endonuclease/helicase in yeast is a monomer o...
  • S Phase, organism-specific biosystem (from REACTOME)
    S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continues,...
  • Synthesis of DNA, organism-specific biosystem (from REACTOME)
    Synthesis of DNA, organism-specific biosystemThe actual synthesis of DNA occurs in the S phase of the cell cycle. This includes the initiation of DNA replication, when the first nucleotide of the new strand is laid down during the synthesis of ...
  • Telomere C-strand (Lagging Strand) Synthesis, organism-specific biosystem (from REACTOME)
    Telomere C-strand (Lagging Strand) Synthesis, organism-specific biosystemDue to the antiparallel nature of DNA, DNA polymerization is unidirectional, and one strand is synthesized discontinuously. This strand is called the lagging strand. Although the polymerase switching...
  • Telomere C-strand synthesis initiation, organism-specific biosystem (from REACTOME)
    Telomere C-strand synthesis initiation, organism-specific biosystemDNA polymerases are not capable of de novo DNA synthesis and require synthesis of a primer, usually by a DNA-dependent RNA polymerase (primase) to begin DNA synthesis. In eukaryotic cells, the primer...
  • Telomere Maintenance, organism-specific biosystem (from REACTOME)
    Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686K1672

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3'-5' exonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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 
contributes_to DNA primase activity IDA
Inferred from Direct Assay
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 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 heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
NOT DNA repair IDA
Inferred from Direct Assay
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 strand elongation involved in DNA replication TAS
Traceable Author Statement
more info
 
NOT DNA synthesis involved in DNA 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 IDA
Inferred from Direct Assay
more info
PubMed 
leading strand elongation IDA
Inferred from Direct Assay
more info
PubMed 
mitotic S phase IDA
Inferred from Direct Assay
more info
PubMed 
mitotic cell cycle TAS
Traceable Author Statement
more info
 
nucleic acid phosphodiester bond hydrolysis IBA
Inferred from Biological aspect of Ancestor
more info
 
NOT nucleotide-excision repair, DNA gap filling IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
telomere maintenance TAS
Traceable Author Statement
more info
 
telomere maintenance via recombination TAS
Traceable Author Statement
more info
 
telomere maintenance via semi-conservative replication TAS
Traceable Author Statement
more info
 
translesion synthesis IBA
Inferred from Biological aspect of Ancestor
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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 
cytoplasm 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 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
DNA polymerase alpha catalytic subunit
Names
DNA polymerase alpha catalytic subunit
DNA polymerase alpha p180 subunit
polymerase (DNA-directed), alpha (70kD)
DNA polymerase alpha 1 catalytic subunit
DNA polymerase alpha catalytic subunit p180
N syndrome (mental retardation, malformations, chromosome breakage)
NP_058633.2

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_016798.1 

    Range
    5001..308040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_016937.3NP_058633.2  DNA polymerase alpha catalytic subunit

    See proteins identical to NP_058633.2

    Status: REVIEWED

    Source sequence(s)
    BM664024, BU508486, BX648513, CN364591, X06745
    Consensus CDS
    CCDS14214.1
    UniProtKB/Swiss-Prot
    P09884
    Related
    ENSP00000368349, OTTHUMP00000023089, ENST00000379059, OTTHUMT00000056111
    Conserved Domains (5) summary
    cd05776
    Location:535767
    Blast Score: 948
    DNA_polB_alpha_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase alpha, a family-B DNA polymerase
    cd05532
    Location:8321242
    Blast Score: 1889
    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
    Blast Score: 4050
    pol2; DNA polymerase (pol2)
    pfam08996
    Location:12631455
    Blast Score: 637
    zf-DNA_Pol; DNA Polymerase alpha zinc finger
    pfam12254
    Location:3595
    Blast Score: 144
    DNA_pol_alpha_N; DNA polymerase alpha subunit p180 N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    24693921..24996986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274552.1XP_005274609.1  

    UniProtKB/TrEMBL
    A6NMQ1
    Related
    ENSP00000368358, OTTHUMP00000023090, ENST00000379068, OTTHUMT00000056112
    Conserved Domains (5) summary
    cd05776
    Location:541773
    Blast Score: 949
    DNA_polB_alpha_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase alpha, a family-B DNA polymerase
    cd05532
    Location:8381248
    Blast Score: 1890
    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
    Blast Score: 4054
    pol2; DNA polymerase (pol2)
    pfam08996
    Location:12691461
    Blast Score: 636
    zf-DNA_Pol; DNA Polymerase alpha zinc finger
    pfam12254
    Location:41101
    Blast Score: 144
    DNA_pol_alpha_N; DNA polymerase alpha subunit p180 N terminal
  2. XM_006724499.1XP_006724562.1  

    Conserved Domains (4) summary
    cd05776
    Location:399631
    Blast Score: 944
    DNA_polB_alpha_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase alpha, a family-B DNA polymerase
    cd05532
    Location:6961106
    Blast Score: 1896
    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
    Blast Score: 3880
    pol2; DNA polymerase (pol2)
    pfam08996
    Location:11271319
    Blast Score: 637
    zf-DNA_Pol; DNA Polymerase alpha zinc finger

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    22454314..22756924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    24743660..25046638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)