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POLA1 Gene

protein-coding   GIFtS: 64
GCID: GC0XP024712

Polymerase (DNA Directed), Alpha 1, Catalytic Subunit

(Previous names: polymerase (DNA directed), alpha, polymerase (DNA directed),...)
(Previous symbols: POLA, NSX)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Polymerase (DNA Directed), Alpha 1, Catalytic Subunit1 2     Polymerase (DNA Directed), Alpha 11
POLA1 2 3     DNA Polymerase Alpha 1 Catalytic Subunit2
NSX1 2     DNA Polymerase Alpha Catalytic Subunit2
N Syndrome (Mental Retardation, Malformations, Chromosome Breakage)1 2     DNA Polymerase Alpha P180 Subunit2
DNA Polymerase Alpha Catalytic Subunit P1802 3     p1802
EC 2.7.7.73 8     Polymerase (DNA-Directed), Alpha (70kD)2
Polymerase (DNA Directed), Alpha1     

External Ids:    HGNC: 91731   Entrez Gene: 54222   Ensembl: ENSG000001018687   OMIM: 3120405   UniProtKB: P098843   

Export aliases for POLA1 gene to outside databases

Previous GC identifers: GC0XP024622 GC0XP022457


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 netherton syndrome, and alpers syndrome. GO annotations related to this gene include protein heterodimerization activity and nucleotide binding.

UniProtKB/Swiss-Prot: DPOLA_HUMAN, P09884
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

Gene Wiki entry for POLA1 (Polymerase, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_167197.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POLA1 gene promoter:
         SRF   SRF (504 AA)   Lmo2   CBF-C   Gfi-1   CBF-B   CBF-A   HOXA5   CP1A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPOLA1 promoter sequence
   Search Chromatin IP Primers for POLA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POLA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.1-p21.3   Ensembl cytogenetic band:  Xp22.11   HGNC cytogenetic band: Xp22.1-p21.3

POLA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POLA1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP024712:  view genomic region     (about GC identifiers)

Start:
24,712,036 bp from pter      End:
25,015,103 bp from pter
Size:
303,068 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DPOLA_HUMAN, P09884 (See protein sequence)
Recommended Name: DNA polymerase alpha catalytic subunit  
Size: 1462 amino acids; 165913 Da
Cofactor: Binds 1 4Fe-4S cluster (By similarity)
Subunit: 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
3 PDB 3D structures from and Proteopedia for POLA1:
1K0P (3D)        1K18 (3D)        1N5G (3D)    
Secondary accessions: Q86UQ7

Explore the universe of human proteins at neXtProt for POLA1: NX_P09884

Explore proteomics data for POLA1 at MOPED

Post-translational modifications: 

  • A 165 kDa form is probably produced by proteolytic cleavage at Lys-1241
  • Ubiquitination2 at Lys970, Lys1200, Lys1316, Lys1376
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for POLA1 (P09884) (see all 21)
     IDTQYYL  SLYPSII  WSKIGRL  NICFTTV 


    See POLA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_058633.2  
    ENSEMBL proteins: 
     ENSP00000368358   ENSP00000368349  
    Reactome Protein details: P09884

    POLA1 Human Recombinant Protein Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    POL: DNA polymerases

    Selected InterPro protein domains (see all 9):
     IPR006172 DNA-dir_DNA_pol_B
     IPR004578 DNA-dir_DNA_pol_B_pol2
     IPR006133 DNA-dir_DNA_pol_B_exonuc
     IPR006134 DNA-dir_DNA_pol_B_multi_dom
     IPR023211 DNA_pol_palm_dom

    Graphical View of Domain Structure for InterPro Entry P09884

    ProtoNet protein and cluster: P09884

    1 Blocks protein domain: IPB006134 DNA polymerase B domain

    UniProtKB/Swiss-Prot: DPOLA_HUMAN, P09884
    Domain: The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes (By
    similarity)
    Similarity: Belongs to the DNA polymerase type-B family
    Similarity: Contains 1 CysA-type zinc finger


    POLA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DPOLA_HUMAN, P09884
    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
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)

         Enzyme Number (IUBMB): EC 2.7.7.71 2

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IDA3139084
    GO:0001882nucleoside binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding NAS3359994
    GO:0003682chromatin binding IDA16762037
         
    POLA1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for POLA1:
     Decreased viability of wild-ty  Increased S DNA content  Increased cell number in S  S arrest 
     Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Pola1):
     normal 

    POLA1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POLA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POLA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POLA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POLA1

    miRNA
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    miRTarBase miRNAs that target POLA1:
    hsa-mir-124-3p (MIRT022295), hsa-mir-193b-3p (MIRT016282), hsa-mir-26b-5p (MIRT028969)

    Block miRNA regulation of human, mouse, rat POLA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate POLA1 (see all 12):
    hsa-miR-206 hsa-miR-562 hsa-miR-181c hsa-miR-1 hsa-miR-181a hsa-miR-181d hsa-miR-211 hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidPOLA1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat POLA1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: POLA1 (NM_016937)
    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat POLA1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POLA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DPOLA_HUMAN, P09884: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    chloroplast2
    mitochondrion2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785colocalizes with chromatin IDA9815285
    GO:0005634nucleus IDA--
    GO:0005635nuclear envelope IDA9518481
    GO:0005654nucleoplasm TAS--
    GO:0005658alpha DNA polymerase:primase complex TAS2243771

    POLA1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for POLA1 About   (see all 15)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Activation of the pre-replicative complex
    Activation of the pre-replicative complex0.66
    Cell cycle Start of DNA replication in early S phase0.53
    DNA Replication0.66
    2Telomere C-strand (Lagging Strand) Synthesis
    Telomere C-strand (Lagging Strand) Synthesis0.79
    Polymerase switching on the C-strand of the telomere0.00
    Extension of Telomeres0.79
    Removal of the Flap Intermediate0.00
    Leading Strand Synthesis0.64
    Lagging Strand Synthesis0.00
    Cell cycle Transition and termination of DNA replication0.43
    Polymerase switching0.00
    3DNA strand elongation
    DNA strand elongation0.63
    DNA replication0.63
    4CDK-mediated phosphorylation and removal of Cdc6
    Synthesis of DNA0.92
    DNA Replication Pre-Initiation0.81
    DNA Replication0.92
    S Phase0.78
    M/G1 Transition0.81
    5E2F mediated regulation of DNA replication
    G1/S Transition0.81
    G1/S-Specific Transcription0.00
    Mitotic G1-G1/S phases0.81
    Inhibition of replication initiation of damaged DNA by RB1/E2F10.00
    E2F mediated regulation of DNA replication0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POLA1
        Mismatch Repair in Eukaryotes
    DNA Repair Mechanisms
    Cell Cycle Control of Chromosomal Replication

    3 GeneGo (Thomson Reuters) Pathways for POLA1
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Cell cycle Transition and termination of DNA replication
    Cell cycle Start of DNA replication in early S phase

    5 BioSystems Pathways for POLA1
        DNA Replication
    Nucleotide Metabolism
    Integrated Pancreatic Cancer Pathway
    RB in Cancer
    E2F transcription factor network

    Selected Reactome Pathways for POLA1 (see all 11)
        Processive synthesis on the lagging strand
    Leading Strand Synthesis
    Removal of the Flap Intermediate
    Inhibition of replication initiation of damaged DNA by RB1/E2F1
    E2F mediated regulation of DNA replication


    4 Kegg Pathways  (Kegg details for POLA1):
        Purine metabolism
    Pyrimidine metabolism
    Metabolic pathways
    DNA replication


    POLA1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for POLA1
    Interactions:

        GeneGlobe Interaction Network for POLA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for POLA1 (P098841, 2, 3 ENSP000003683494) via UniProtKB, MINT, STRING, and/or I2D (see all 338)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPA1P276941, 2, 3, ENSP000002547194EBI-850026,EBI-621389 MINT-6628870 MINT-6628875 I2D: score=1 STRING: ENSP00000254719
    PRIM1P496423, ENSP000003504914I2D: score=9 STRING: ENSP00000350491
    CDC45O754193, ENSP000002632014I2D: score=4 STRING: ENSP00000263201
    CDK2P249413, ENSP000002669704I2D: score=3 STRING: ENSP00000266970
    CDK2AP1O145193, ENSP000002616924I2D: score=3 STRING: ENSP00000261692
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle TAS--
    GO:0000083regulation of transcription involved in G1/S transition of mitotic cell cycle TAS--
    GO:0000084mitotic S phase IDA16762037
    GO:0000278mitotic cell cycle TAS--
    GO:0000722telomere maintenance via recombination TAS--

    POLA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for POLA1
      Browse compounds at ApexBio 

    Browse Tocris compounds for POLA1 (DPOLA)

    6 HMDB Compounds for POLA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Thymidine 5'-triphosphate2'-Deoxythymidine 5'-triphosphate (see all 13)365-08-2--
    dATP2'-Deoxy-5'-ATP (see all 8)1927-31-7--
    dCTP2'-deoxycytidine-5'-triphosphate (see all 4)2056-98-6--
    dGTP2'-Deoxyguanosine 5'-triphosphate (see all 4)2564-35-4--

    4 DrugBank Compounds for POLA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Clofarabine-- 123318-82-1targetinhibitor18728851 19576186 19519505 18780321 17139284 17016423 15230627 20631817 17852710
    FludarabineFAMP (see all 4)75607-67-9targetinhibitor19325518 19519505 17139284 17168705 17016423
    Cladribine2-CdA (see all 5)4291-63-8targetinhibitor19576186 14722255 16316309 9923554
    NelarabineGW-506U78 (see all 2)121032-29-9targetinhibitor18473971 18035189 91427 12750168



    POLA1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for POLA1 gene: 
    NM_016937.3  

    Unigene Cluster for POLA1:

    Polymerase (DNA directed), alpha 1, catalytic subunit
    Hs.567319  [show with all ESTs]
    Unigene Representative Sequence: NM_016937
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379068(uc004dbm.3) ENST00000379059(uc004dbl.3) ENST00000493342
    ENST00000480125 ENST00000494204
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate POLA1 (see all 12):
    hsa-miR-206 hsa-miR-562 hsa-miR-181c hsa-miR-1 hsa-miR-181a hsa-miR-181d hsa-miR-211 hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidPOLA1 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector: POLA1 (NM_016937)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POLA1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat POLA1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for POLA1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POLA1
      QuantiTect SYBR Green Assays in human, mouse, rat POLA1
      QuantiFast Probe-based Assays in human, mouse, rat POLA1

    Additional mRNA sequence: 

    BX648513.1 X06745.1 

    6 DOTS entries:

    DT.411463  DT.101964278  DT.100754617  DT.121313543  DT.121313564  DT.100021890 

    Selected AceView cDNA sequences (see all 62):

    BM664024 T28998 CB149914 CB140712 CB152927 BU508486 CB134498 BX117096 
    CK430461 CR625340 AI354751 BX374130 BX327138 AA383406 BF210579 BE326747 
    AU132112 BQ883339 X06745 CB122291 AA355814 BX648513 AI677650 BM692432 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    POLA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCTGTCTC
    POLA1 Expression
    About this image


    POLA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Bone (Muscoskeletal System)
             Bone Marrow
    POLA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POLA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567319
        Custom PCR Arrays for POLA1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for POLA1
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for POLA1 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pola11 , 5 polymerase (DNA directed), alpha 11, 5 89.06(n)1
    88.28(a)1
      X (41.06 cM)5
    189681  NM_008892.21  NP_032918.11 
     933047675 
    chicken
    (Gallus gallus)
    Aves POLA11 polymerase (DNA directed), alpha 1, catalytic subunit 75.63(n)
    76.02(a)
      418593  XM_416792.4  XP_416792.3 
    lizard
    (Anolis carolinensis)
    Reptilia POLA16
    polymerase (DNA directed), alpha 1, catalytic subu...
    73(a)
    1 ↔ 1
    3(126075796-126190824)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3982002 DNA polymerase alpha 75.86(n)    AF202992.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mpzf637-2-0014612 mpzf637-2-001461 76.36(n)   387020  CK146462.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta DNApol-alpha1801 DNA polymerase alpha 180kD 50.36(n)
    43.28(a)
      42553  NM_080488.3  NP_536736.2 
    worm
    (Caenorhabditis elegans)
    Secernentea Y47D3A.291 Y47D3A.29 49.43(n)
    41.3(a)
      176544  NM_001268180.1  NP_001255109.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes POL1(YNL102W)4
    POL11
    Catalytic subunit of the DNA polymerase I alpha-primase more4
    POL11
    49.12(n)1
    39.14(a)1
      14(430087-434493)4
    8556211, 4  NP_014297.31  NP_014297.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ICU21 ICU2 50.94(n)
    40.69(a)
      836845  NM_126110.2  NP_201511.2 
    rice
    (Oryza sativa)
    Liliopsida Os.473132 Oryza sativa mRNA for DNA polymerase alpha catalytic more 74.04(n)    AK103345.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for POLA1 (see all 3422)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2003704191,2
    Cuntested124721993(+) CCCCTC/TGATGT 1 -- int10--------
    rs2011543671,2
    Cuntested124722041(+) GCCGGC/TGGGGC 1 -- int10--------
    rs1422029281,2
    --24625304(+) CTAATA/GAACAA 1 -- us2k10--------
    rs1915392321,2
    --24625362(+) AGGTGC/GCGGCA 1 -- us2k10--------
    rs1459221761,2
    --24625373(+) GATTCA/GGTGTT 1 -- us2k10--------
    rs1842410971,2
    --24625474(+) TTTCCC/GAGGGC 1 -- us2k10--------
    rs66299061,2
    H--24625487(+) taatcC/Gtattc 1 -- us2k14Minor allele frequency- G:0.00NS EA 418
    rs1871963681,2
    --24625502(+) GGGAGG/TGTTCC 1 -- us2k10--------
    rs1921254301,2
    --24625523(+) CTAATC/TACCTC 1 -- us2k10--------
    rs1823567221,2
    --24625653(+) CTAGAA/GTTATA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for POLA1 (24712036 - 24962036 bp, first 250kb of POLA1)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for POLA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2146318CNV Deletion18987734
    esv2672026CNV Deletion23128226
    esv2740014CNV Deletion23290073
    esv2675627CNV Deletion23128226
    nsv517960CNV Gain19592680

    Locus Specific Mutation Databases (LSDB): POLA1

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for POLA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 312040   
    OMIM disorders: 310465  
    Selected diseases for POLA1 (see all 22):    
    About MalaCards
    netherton syndrome    alpers syndrome    n syndrome    skin tag
    chronic progressive external ophthalmoplegia    herpes zoster    ophthalmoplegia    human immunodeficiency virus infectious disease
    acquired immunodeficiency syndrome    xeroderma pigmentosum    age related macular degeneration    vaccinia
    encephalitis    herpes simplex    retinoblastoma    pancreatic cancer
    hepatitis b    pancreatitis    retinitis    hepatitis

    9 diseases from the University of Copenhagen DISEASES database for POLA1:
    Hepatitis B     Herpes simplex     Hepatitis     Xeroderma pigmentosum
    Cancer     Acquired immunodeficiency syndrome     Retinitis     Vaccinia
    Herpes zoster

    POLA1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): POLA1

    Export disorders for POLA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for POLA1 gene, integrated from 10 sources (see all 116):
    (articles sorted by number of sources associating them with POLA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Physical interactions between Mcm10, DNA, and DNA polymerase alpha. (PubMed id 19608746)1, 2 Warren E.M.... Eichman B.F. (J. Biol. Chem. 2009)
    2. Nuclear magnetic resonance structures of the zinc finger domain of human DNA polymerase-alpha. (PubMed id 14499601)1, 2 Evanics F.... Bose R.N. (Biochim. Biophys. Acta 2003)
    3. Functional association of poly(ADP-ribose) polymerase with DNA polymerase alpha-primase complex: a link between DNA strand break detection and DNA replication. (PubMed id 9518481)1, 2 Dantzer F....Menissier-de Murcia J. (Nucleic Acids Res. 1998)
    4. Human DNA polymerase alpha gene: sequences controlling expression in cycling and serum-stimulated cells. (PubMed id 2005899)1, 2 Pearson B.E.... Wang T.S.-F. (Mol. Cell. Biol. 1991)
    5. DNA polymerase alpha defect in the N syndrome. (PubMed id 1689958)1, 3 Floy K.M....Meisner L.F. (Am. J. Med. Genet. 1990)
    6. Human DNA polymerase alpha catalytic polypeptide binds ConA and RCA and contains a specific labile site in the N-terminus. (PubMed id 2243771)1, 2 Hsi K.-L.... Wang T.S.-F. (Nucleic Acids Res. 1990)
    7. Human DNA polymerase alpha gene expression is cell proliferation dependent and its primary structure is similar to both prokaryotic and eukaryotic replicative DNA polymerases. (PubMed id 3359994)1, 2 Wong S.W.... Wang T.S.-F. (EMBO J. 1988)
    8. Mutational studies of human DNA polymerase alpha. Identification of residues critical for deoxynucleotide binding and misinsertion fidelity of DNA synthesis. (PubMed id 8226963)1, 9 Dong Q....Wang T.S. (J. Biol. Chem. 1993)
    9. Saccharomyces cerevisiae genetics predicts candidate therapeutic genetic interactions at the mammalian replication fork. (PubMed id 23390603)1 van Pel D.M....Hieter P. (G3 (Bethesda) 2013)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5422 HGNC: 9173 AceView: POLA Ensembl:ENSG00000101868 euGenes: HUgn5422
    ECgene: POLA1 Kegg: 5422 H-InvDB: POLA1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for POLA1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/pola/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POLA1 gene:
    Search GeneIP for patents involving POLA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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