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Aliases for POLA1 Gene

Aliases for POLA1 Gene

  • Polymerase (DNA Directed), Alpha 1, Catalytic Subunit 2 3
  • DNA Polymerase Alpha Catalytic Subunit P180 3 4
  • EC 2.7.7.7 4 63
  • POLA 3 4
  • N Syndrome (Mental Retardation, Malformations, Chromosome Breakage) 2
  • DNA Polymerase Alpha 1 Catalytic Subunit 3
  • Polymerase (DNA-Directed), Alpha (70kD) 3
  • DNA Polymerase Alpha Catalytic Subunit 3
  • Polymerase (DNA Directed), Alpha 1 2
  • DNA Polymerase Alpha P180 Subunit 3
  • Polymerase (DNA Directed), Alpha 2
  • P180 3
  • NSX 3

External Ids for POLA1 Gene

Previous HGNC Symbols for POLA1 Gene

  • POLA
  • NSX

Previous GeneCards Identifiers for POLA1 Gene

  • GC0XP024622
  • GC0XP022457

Summaries for POLA1 Gene

Entrez Gene Summary for POLA1 Gene

  • 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]

GeneCards Summary for POLA1 Gene

POLA1 (Polymerase (DNA Directed), Alpha 1, Catalytic Subunit) is a Protein Coding gene. Diseases associated with POLA1 include n syndrome. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include protein heterodimerization activity and nucleotide binding.

UniProtKB/Swiss-Prot for POLA1 Gene

  • Plays an essential role in the initiation of DNA replication. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1/p180, a regulatory subunit POLA2/p70 and two primase subunits PRIM1/p49 and PRIM2/p58) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. The reason this transfer occurs is because the polymerase alpha has limited processivity and lacks intrinsic 3 exonuclease activity for proofreading error, and therefore is not well suited for replicating long complexes.

Gene Wiki entry for POLA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLA1 Gene

Genomics for POLA1 Gene

Regulatory Elements for POLA1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for POLA1 Gene

Start:
24,693,919 bp from pter
End:
24,996,986 bp from pter
Size:
303,068 bases
Orientation:
Plus strand

Genomic View for POLA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POLA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLA1 Gene

Proteins for POLA1 Gene

  • Protein details for POLA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09884-DPOLA_HUMAN
    Recommended name:
    DNA polymerase alpha catalytic subunit
    Protein Accession:
    P09884
    Secondary Accessions:
    • Q86UQ7

    Protein attributes for POLA1 Gene

    Size:
    1462 amino acids
    Molecular mass:
    165913 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster.;
    Quaternary structure:
    • The DNA polymerase alpha complex is composed of four subunits: the catalytic subunit POLA1, the regulatory subunit POLA2, and the small and the large primase subunits PRIM1 and PRIM2 respectively. Interacts with PARP1; this interaction functions as part of the control of replication fork progression. Interacts with MCM10 and WDHD1; these interactions recruit the polymerase alpha complex to the pre-replicative complex bound to DNA. Interacts with RPA1; this interaction stabilizes the replicative complex and reduces the misincorporation rate of DNA polymerase alpha by acting as a fidelity clamp. Interacts with SV40 Large T antigen; this interaction allows viral DNA replication. Interacts with herpes simplex virus 1 (HHV-1) replication origin-binding protein UL9.
    Miscellaneous:
    • In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are responsible for different reactions of DNA synthesis

    Three dimensional structures from OCA and Proteopedia for POLA1 Gene

neXtProt entry for POLA1 Gene

Proteomics data for POLA1 Gene at MOPED

Post-translational modifications for POLA1 Gene

  • A 165 kDa form is probably produced by proteolytic cleavage at Lys-124.
  • Ubiquitination at Lys970, Lys1200, Lys1316, and Lys1376
  • Modification sites at PhosphoSitePlus

Other Protein References for POLA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for POLA1 Gene

Gene Families for POLA1 Gene

HGNC:
  • POL :DNA polymerases

Suggested Antigen Peptide Sequences for POLA1 Gene

Graphical View of Domain Structure for InterPro Entry

P09884

UniProtKB/Swiss-Prot:

DPOLA_HUMAN :
  • P09884
Domain:
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
Family:
  • Belongs to the DNA polymerase type-B family.
Similarity:
  • Contains 1 CysA-type zinc finger.
genes like me logo Genes that share domains with POLA1: view

Function for POLA1 Gene

Molecular function for POLA1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)
UniProtKB/Swiss-Prot Function:
Plays an essential role in the initiation of DNA replication. During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1/p180, a regulatory subunit POLA2/p70 and two primase subunits PRIM1/p49 and PRIM2/p58) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. The reason this transfer occurs is because the polymerase alpha has limited processivity and lacks intrinsic 3 exonuclease activity for proofreading error, and therefore is not well suited for replicating long complexes.

Enzyme Numbers (IUBMB) for POLA1 Gene

Gene Ontology (GO) - Molecular Function for POLA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IDA 3139084
GO:0001882 nucleoside binding IEA --
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding NAS 3359994
GO:0003682 chromatin binding IDA 16762037
genes like me logo Genes that share ontologies with POLA1: view
genes like me logo Genes that share phenotypes with POLA1: view

miRNA for POLA1 Gene

miRTarBase miRNAs that target POLA1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for POLA1 Gene

Localization for POLA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLA1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POLA1 Gene COMPARTMENTS Subcellular localization image for POLA1 gene
Compartment Confidence
nucleus 5
cytosol 3
chloroplast 2
mitochondrion 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for POLA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 colocalizes_with chromatin IDA 9815285
GO:0005634 nucleus IDA 16762037
GO:0005635 nuclear envelope IDA 9518481
GO:0005654 nucleoplasm TAS --
GO:0005658 alpha DNA polymerase:primase complex TAS 2243771
genes like me logo Genes that share ontologies with POLA1: view

Pathways for POLA1 Gene

genes like me logo Genes that share pathways with POLA1: view

Gene Ontology (GO) - Biological Process for POLA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS --
GO:0000278 mitotic cell cycle TAS --
GO:0000722 telomere maintenance via recombination TAS --
GO:0000723 telomere maintenance TAS --
genes like me logo Genes that share ontologies with POLA1: view

Compounds for POLA1 Gene

Compound Products

(3) ApexBio Compounds for POLA1 Gene

Compound Action Cas Number
Cytarabine [147-94-4]
Fludarabine Phosphate (Fludara) Inhibits STAT1 activation and DNA synthesis [75607-67-9]
Vitamin D2 (Ergocalciferol) DNA Polymerase inhibitor [50-14-6]

(6) HMDB Compounds for POLA1 Gene

Compound Synonyms Cas Number PubMed IDs
dATP
  • 2'-Deoxy-5'-ATP
1927-31-7
dCTP
  • 2'-deoxycytidine-5'-triphosphate
2056-98-6
dGTP
  • 2'-Deoxyguanosine 5'-triphosphate
2564-35-4
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(4) Drugbank Compounds for POLA1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cladribine
  • 2-CdA
4291-63-8 target inhibitor
Clofarabine
123318-82-1 target inhibitor
Fludarabine
  • FAMP
75607-67-9 target inhibitor
Nelarabine
  • GW-506U78
121032-29-9 target inhibitor
genes like me logo Genes that share compounds with POLA1: view

Transcripts for POLA1 Gene

Unigene Clusters for POLA1 Gene

Polymerase (DNA directed), alpha 1, catalytic subunit:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for POLA1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for POLA1 Gene

No ASD Table

Relevant External Links for POLA1 Gene

GeneLoc Exon Structure for
POLA1
ECgene alternative splicing isoforms for
POLA1

Expression for POLA1 Gene

mRNA expression in normal human tissues for POLA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for POLA1 Gene

This gene is overexpressed in Breast (29.5), Heart (22.3), and Plasma (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POLA1 Gene

SOURCE GeneReport for Unigene cluster for POLA1 Gene Hs.567319

genes like me logo Genes that share expressions with POLA1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Expression partners for POLA1 Gene

Orthologs for POLA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for POLA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia POLA1 35
  • 90.99 (n)
  • 90.56 (a)
POLA1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLA1 35
  • 92.03 (n)
  • 91.64 (a)
POLA1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pola1 35
  • 89.06 (n)
  • 88.28 (a)
Pola1 16
Pola1 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia POLA1 35
  • 98.79 (n)
  • 98.24 (a)
POLA1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pola1 35
  • 89.73 (n)
  • 89.94 (a)
oppossum
(Monodelphis domestica)
Mammalia POLA1 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves POLA1 35
  • 75.63 (n)
  • 76.02 (a)
POLA1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLA1 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pola1 35
  • 70.68 (n)
  • 73.49 (a)
Str.19655 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398200 35
zebrafish
(Danio rerio)
Actinopterygii mpzf637-2-001461 35
pola1 35
  • 67.55 (n)
  • 70.56 (a)
pola1 36
  • 69 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001929 35
  • 49.73 (n)
  • 44.8 (a)
fruit fly
(Drosophila melanogaster)
Insecta DNApol-alpha180 35
  • 50.36 (n)
  • 43.28 (a)
DNApol-alpha180 36
  • 38 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y47D3A.29 35
  • 49.43 (n)
  • 41.3 (a)
Y47D3A.29 36
  • 36 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER381C 35
  • 48.17 (n)
  • 38.61 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C13255g 35
  • 46.72 (n)
  • 36.53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes POL1 35
  • 49.12 (n)
  • 39.14 (a)
POL1 36
  • 31 (a)
OneToOne
POL1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ICU2 35
  • 50.94 (n)
  • 40.69 (a)
rice
(Oryza sativa)
Liliopsida Os.47313 35
Os01g0868300 35
  • 51.71 (n)
  • 44.49 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10716 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07870 35
  • 46.45 (n)
  • 36.82 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pol1 35
  • 48.91 (n)
  • 38.22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7288 36
  • 50 (a)
OneToOne
Species with no ortholog for POLA1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POLA1 Gene

ENSEMBL:
Gene Tree for POLA1 (if available)
TreeFam:
Gene Tree for POLA1 (if available)

Paralogs for POLA1 Gene

No data available for Paralogs for POLA1 Gene

Variants for POLA1 Gene

Sequence variations from dbSNP and Humsavar for POLA1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs734304 -- 24,946,976(-) TAAGG(G/T)GGGAA intron-variant
rs734305 -- 24,946,752(-) ACATA(A/T)AATAA intron-variant
rs929313 -- 24,729,032(+) acaca(A/C)tgtcT intron-variant
rs1557706 -- 24,954,250(-) CTTTT(C/T)TCACT intron-variant
rs1557707 -- 24,954,248(-) TTTCT(C/T)ACTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POLA1 Gene

Variant ID Type Subtype PubMed ID
nsv517960 CNV Gain 19592680
esv2675627 CNV Deletion 23128226
esv2146318 CNV Deletion 18987734
esv2740014 CNV Deletion 23290073
esv2672026 CNV Deletion 23128226

Relevant External Links for POLA1 Gene

HapMap Linkage Disequilibrium report
POLA1
Locus Specific Mutation Databases (LSDB)
POLA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLA1 Gene

Disorders for POLA1 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for POLA1 Gene in MalaCards »

(1) Diseases for POLA1 Gene including...

(1) OMIM Diseases for POLA1 Gene (312040)

Relevant External Links for POLA1

Genetic Association Database (GAD)
POLA1
genes like me logo Genes that share disorders with POLA1: view

No data available for UniProtKB/Swiss-Prot , Novoseek inferred disease relationships and Genatlas for POLA1 Gene

Publications for POLA1 Gene

  1. Mutational studies of human DNA polymerase alpha. Identification of residues critical for deoxynucleotide binding and misinsertion fidelity of DNA synthesis. (PMID: 8226963) Dong Q. … Wang T.S. (J. Biol. Chem. 1993) 3 23
  2. DNA polymerase alpha defect in the N syndrome. (PMID: 1689958) Floy K.M. … Meisner L.F. (Am. J. Med. Genet. 1990) 2 3
  3. Human DNA polymerase alpha catalytic polypeptide binds ConA and RCA and contains a specific labile site in the N-terminus. (PMID: 2243771) Hsi K.-L. … Wang T.S.-F. (Nucleic Acids Res. 1990) 3 4
  4. Human DNA polymerase alpha gene expression is cell proliferation dependent and its primary structure is similar to both prokaryotic and eukaryotic replicative DNA polymerases. (PMID: 3359994) Wong S.W. … Wang T.S.-F. (EMBO J. 1988) 3 4
  5. Functional association of poly(ADP-ribose) polymerase with DNA polymerase alpha-primase complex: a link between DNA strand break detection and DNA replication. (PMID: 9518481) Dantzer F. … Menissier-de Murcia J. (Nucleic Acids Res. 1998) 3 4

Products for POLA1 Gene

Sources for POLA1 Gene

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