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

    Gene ID: 5422, updated on 7-Jan-2024

    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; AllianceGenome:HGNC:9173
    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; PDR; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See POLA1 in Genome Data Viewer
    Location:
    Xp22.11-p21.3
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (24693918..24996986)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (24278197..24581230)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (24712035..25015103)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene phosphate cytidylyltransferase 1B, choline Neighboring gene uncharacterized LOC124905262 Neighboring gene ribosomal protein L23 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:24710004-24710504 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29507 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:24783273-24783773 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 uncharacterized LOC124905263 Neighboring gene VISTA enhancer hs121 Neighboring gene VISTA enhancer hs122 Neighboring gene VISTA enhancer hs145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:25021017-25021551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:25022180-25022754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:25022755-25023328 Neighboring gene aristaless related homeobox polyalanine expansion region Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:25038709-25039287 Neighboring gene PAFAH1B2 pseudogene 1 Neighboring gene aristaless related homeobox

    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

    Clone Names

    • DKFZp686K1672

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nucleotide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    NOT involved_in DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA replication initiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA replication, synthesis of RNA primer IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in DNA strand elongation involved in DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA synthesis involved in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in DNA synthesis involved in UV-damage excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in double-strand break repair via nonhomologous end joining IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lagging strand elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lagging strand elongation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in leading strand elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in leading strand elongation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in mitotic DNA replication initiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT involved_in nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of type I interferon production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in 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_001365232.1
    NP_058633.2
    XP_011543842.1
    XP_011543843.1
    XP_016885083.1
    XP_016885084.1
    XP_016885085.1
    XP_024308160.1
    XP_047298136.1
    XP_047298137.1
    XP_047298138.1
    XP_047298139.1
    XP_054183220.1
    XP_054183221.1
    XP_054183222.1
    XP_054183223.1
    XP_054183224.1
    XP_054183225.1
    XP_054183226.1
    XP_054183227.1
    XP_054183228.1
    XP_054183229.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, ENST00000379068.8
      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_001378303.1NP_001365232.1  DNA polymerase alpha catalytic subunit isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC002504, AC004655, AC079375, AC135280, KF459037
      Conserved Domains (2) summary
      TIGR00592
      Location:561206
      pol2; DNA polymerase (pol2)
      pfam08996
      Location:12461436
      zf-DNA_Pol; DNA Polymerase alpha zinc finger
    3. 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, Q86UQ7
      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

    RNA

    1. NR_165482.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC002504, AC004655, AC079375, AC135280
      Related
      ENST00000672178.1
    2. NR_165483.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC002504, AC004655, AC079375, AC135280, KF459037

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      24693918..24996986
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029595.3XP_016885084.1  DNA polymerase alpha catalytic subunit isoform X2

    2. XM_017029594.3XP_016885083.1  DNA polymerase alpha catalytic subunit isoform X1

    3. XM_017029596.2XP_016885085.1  DNA polymerase alpha catalytic subunit isoform X3

    4. XM_011545540.4XP_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_047442180.1XP_047298136.1  DNA polymerase alpha catalytic subunit isoform X5

    6. XM_024452392.2XP_024308160.1  DNA polymerase alpha catalytic subunit isoform X7

      Conserved Domains (1) summary
      TIGR00592
      Location:561187
      pol2; DNA polymerase (pol2)
    7. XM_011545541.3XP_011543843.1  DNA polymerase alpha catalytic subunit isoform X8

      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
    8. XM_047442183.1XP_047298139.1  DNA polymerase alpha catalytic subunit isoform X9

    9. XM_047442181.1XP_047298137.1  DNA polymerase alpha catalytic subunit isoform X6

    10. XM_047442182.1XP_047298138.1  DNA polymerase alpha catalytic subunit isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      24278197..24581230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327246.1XP_054183221.1  DNA polymerase alpha catalytic subunit isoform X2

    2. XM_054327245.1XP_054183220.1  DNA polymerase alpha catalytic subunit isoform X1

    3. XM_054327247.1XP_054183222.1  DNA polymerase alpha catalytic subunit isoform X3

    4. XM_054327248.1XP_054183223.1  DNA polymerase alpha catalytic subunit isoform X4

    5. XM_054327249.1XP_054183224.1  DNA polymerase alpha catalytic subunit isoform X5

    6. XM_054327252.1XP_054183227.1  DNA polymerase alpha catalytic subunit isoform X7

    7. XM_054327253.1XP_054183228.1  DNA polymerase alpha catalytic subunit isoform X8

    8. XM_054327254.1XP_054183229.1  DNA polymerase alpha catalytic subunit isoform X9

    9. XM_054327250.1XP_054183225.1  DNA polymerase alpha catalytic subunit isoform X6

    10. XM_054327251.1XP_054183226.1  DNA polymerase alpha catalytic subunit isoform X6