Format

Send to:

Choose Destination

PRIMPOL primase and DNA directed polymerase [ Homo sapiens (human) ]

Gene ID: 201973, updated on 20-Sep-2021

Summary

Official Symbol
PRIMPOLprovided by HGNC
Official Full Name
primase and DNA directed polymeraseprovided by HGNC
Primary source
HGNC:HGNC:26575
See related
Ensembl:ENSG00000164306 MIM:615421
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
MYP22; CCDC111; Primpol1
Summary
This gene encodes a DNA primase-polymerase that belongs to a superfamily of archaeao-eukaryotic primases. Members of this family have primase activity, catalyzing the synthesis of short RNA primers that serve as starting points for DNA synthesis, as well as DNA polymerase activity. The encoded protein facilitates DNA damage tolerance by mediating uninterrupted fork progression after UV irradiation and reinitiating DNA synthesis. An allelic variant in this gene is associated with myopia 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Ubiquitous expression in ovary (RPKM 5.3), endometrium (RPKM 5.2) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PRIMPOL in Genome Data Viewer
Location:
4q35.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (184649672..184694952)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (185570892..185616106)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2365 Neighboring gene caspase 3 Neighboring gene centromere protein U Neighboring gene acyl-CoA synthetase long chain family member 1 Neighboring gene proteoglycan 3, pro eosinophil major basic protein 2 pseudogene Neighboring gene uncharacterized LOC105377587 Neighboring gene MIR3945 host gene

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33167

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA primase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA primase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-directed DNA polymerase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chromatin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables manganese ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables manganese ion binding TAS
Traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in DNA replication, synthesis of RNA primer IEA
Inferred from Electronic Annotation
more info
 
involved_in R-loop disassembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in error-prone translesion synthesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mitochondrial DNA repair ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mitochondrial DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitochondrial DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in replication fork processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in replication fork processing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in replication fork processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to UV IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to UV IDA
Inferred from Direct Assay
more info
PubMed 
involved_in translesion synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in translesion synthesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in replication fork IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA-directed primase/polymerase protein
Names
coiled-coil domain-containing protein 111
hPrimpol1

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_051582.1 RefSeqGene

    Range
    5126..50340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001300767.2NP_001287696.1  DNA-directed primase/polymerase protein isoform 2

    See identical proteins and their annotated locations for NP_001287696.1

    Status: REVIEWED

    Source sequence(s)
    AK057729, BC047467, BP245596
    Consensus CDS
    CCDS75212.1
    UniProtKB/Swiss-Prot
    Q96LW4
    UniProtKB/TrEMBL
    D3DP56
    Related
    ENSP00000421913.1, ENST00000515774.5
    Conserved Domains (1) summary
    pfam03121
    Location:273337
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  2. NM_001300768.2NP_001287697.1  DNA-directed primase/polymerase protein isoform 3

    See identical proteins and their annotated locations for NP_001287697.1

    Status: REVIEWED

    Source sequence(s)
    AK057729, BX647575
    Consensus CDS
    CCDS75211.1
    UniProtKB/Swiss-Prot
    Q96LW4
    UniProtKB/TrEMBL
    A0A0A0MTC0
    Related
    ENSP00000425316.1, ENST00000512834.5
    Conserved Domains (1) summary
    pfam03121
    Location:401465
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  3. NM_001345891.2NP_001332820.1  DNA-directed primase/polymerase protein isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
    Conserved Domains (1) summary
    pfam03121
    Location:402479
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  4. NM_001345892.2NP_001332821.1  DNA-directed primase/polymerase protein isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
    Conserved Domains (1) summary
    pfam03121
    Location:401478
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  5. NM_001345893.2NP_001332822.1  DNA-directed primase/polymerase protein isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
    Conserved Domains (1) summary
    pfam03121
    Location:401478
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  6. NM_001345894.2NP_001332823.1  DNA-directed primase/polymerase protein isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
    Conserved Domains (1) summary
    pfam03121
    Location:170247
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  7. NM_001345895.2NP_001332824.1  DNA-directed primase/polymerase protein isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
    Consensus CDS
    CCDS3837.1
    UniProtKB/Swiss-Prot
    Q96LW4
    Related
    ENSP00000420860.1, ENST00000503752.5
    Conserved Domains (1) summary
    pfam03121
    Location:402466
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  8. NM_001345896.2NP_001332825.1  DNA-directed primase/polymerase protein isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
    Consensus CDS
    CCDS75211.1
    UniProtKB/TrEMBL
    A0A0A0MTC0
  9. NM_001345897.2NP_001332826.1  DNA-directed primase/polymerase protein isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
    Conserved Domains (1) summary
    pfam03121
    Location:170234
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  10. NM_001345898.2NP_001332827.1  DNA-directed primase/polymerase protein isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
    Conserved Domains (1) summary
    pfam03121
    Location:169233
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  11. NM_001345899.2NP_001332828.1  DNA-directed primase/polymerase protein isoform 9

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
  12. NM_001345900.2NP_001332829.1  DNA-directed primase/polymerase protein isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC079257
    Conserved Domains (1) summary
    pfam03121
    Location:227291
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  13. NM_001345901.2NP_001332830.1  DNA-directed primase/polymerase protein isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
    Conserved Domains (1) summary
    pfam03121
    Location:170234
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  14. NM_152683.4NP_689896.1  DNA-directed primase/polymerase protein isoform 1

    See identical proteins and their annotated locations for NP_689896.1

    Status: REVIEWED

    Source sequence(s)
    BC064600, BP245596
    Consensus CDS
    CCDS3837.1
    UniProtKB/Swiss-Prot
    Q96LW4
    Related
    ENSP00000313816.6, ENST00000314970.11
    Conserved Domains (1) summary
    pfam03121
    Location:402466
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase

RNA

  1. NR_144312.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
  2. NR_144313.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
  3. NR_144314.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC079257, KF459591
    Related
    ENST00000509002.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    184649672..184694952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531723.1XP_011530025.1  DNA-directed primase/polymerase protein isoform X5

    Conserved Domains (1) summary
    pfam03121
    Location:273350
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  2. XM_024453928.1XP_024309696.1  DNA-directed primase/polymerase protein isoform X6

    Conserved Domains (1) summary
    pfam03121
    Location:272336
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  3. XM_024453931.1XP_024309699.1  DNA-directed primase/polymerase protein isoform X10

    Conserved Domains (1) summary
    pfam03121
    Location:189253
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  4. XM_011531726.3XP_011530028.1  DNA-directed primase/polymerase protein isoform X7

    See identical proteins and their annotated locations for XP_011530028.1

    Conserved Domains (1) summary
    pfam03121
    Location:227304
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  5. XM_017007872.1XP_016863361.1  DNA-directed primase/polymerase protein isoform X11

    Conserved Domains (1) summary
    pfam03121
    Location:170247
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  6. XM_024453933.1XP_024309701.1  DNA-directed primase/polymerase protein isoform X13

    Conserved Domains (1) summary
    pfam03121
    Location:169233
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  7. XM_024453930.1XP_024309698.1  DNA-directed primase/polymerase protein isoform X9

    Conserved Domains (1) summary
    pfam03121
    Location:226290
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  8. XM_024453929.1XP_024309697.1  DNA-directed primase/polymerase protein isoform X8

    Conserved Domains (1) summary
    pfam03121
    Location:227291
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  9. XM_011531720.1XP_011530022.1  DNA-directed primase/polymerase protein isoform X1

    See identical proteins and their annotated locations for XP_011530022.1

    Conserved Domains (1) summary
    pfam03121
    Location:402479
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  10. XM_017007867.2XP_016863356.1  DNA-directed primase/polymerase protein isoform X2

  11. XM_017007868.2XP_016863357.1  DNA-directed primase/polymerase protein isoform X3

  12. XM_017007869.2XP_016863358.1  DNA-directed primase/polymerase protein isoform X4

  13. XM_011531724.3XP_011530026.1  DNA-directed primase/polymerase protein isoform X7

    See identical proteins and their annotated locations for XP_011530026.1

    Conserved Domains (1) summary
    pfam03121
    Location:227304
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  14. XM_024453934.1XP_024309702.1  DNA-directed primase/polymerase protein isoform X14

    Conserved Domains (1) summary
    pfam03121
    Location:143207
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  15. XM_011531730.2XP_011530032.1  DNA-directed primase/polymerase protein isoform X11

    See identical proteins and their annotated locations for XP_011530032.1

    Conserved Domains (1) summary
    pfam03121
    Location:170247
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  16. XM_024453932.1XP_024309700.1  DNA-directed primase/polymerase protein isoform X12

    Conserved Domains (1) summary
    pfam03121
    Location:170234
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase
  17. XM_011531725.1XP_011530027.1  DNA-directed primase/polymerase protein isoform X7

    See identical proteins and their annotated locations for XP_011530027.1

    Conserved Domains (1) summary
    pfam03121
    Location:227304
    Herpes_UL52; Herpesviridae UL52/UL70 DNA primase

RNA

  1. XR_938701.3 RNA Sequence

  2. XR_002959718.1 RNA Sequence

  3. XR_002959717.1 RNA Sequence

  4. XR_002959719.1 RNA Sequence

  5. XR_001741160.2 RNA Sequence

  6. XR_001741163.2 RNA Sequence

Support Center