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 ... See more...

Aliases for PRIMPOL Gene

Aliases for PRIMPOL Gene

  • Primase And DNA Directed Polymerase 2 3 5
  • Coiled-Coil Domain-Containing Protein 111 3 4
  • DNA-Directed Primase/Polymerase Protein 3 4
  • HPrimpol1 3 4
  • CCDC111 3 4
  • Primase And Polymerase (DNA-Directed) 2
  • Coiled-Coil Domain Containing 111 2
  • EC 2.7.7.- 4
  • Primpol1 3
  • FLJ33167 2
  • PRIMPOL 5
  • MYP22 3

External Ids for PRIMPOL Gene

Previous HGNC Symbols for PRIMPOL Gene

  • CCDC111

Previous GeneCards Identifiers for PRIMPOL Gene

  • GC04P185571

Summaries for PRIMPOL Gene

Entrez Gene Summary for PRIMPOL Gene

  • 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]

GeneCards Summary for PRIMPOL Gene

PRIMPOL (Primase And DNA Directed Polymerase) is a Protein Coding gene. Diseases associated with PRIMPOL include Myopia 22, Autosomal Dominant and Myopia. Gene Ontology (GO) annotations related to this gene include chromatin binding and DNA-directed DNA polymerase activity.

UniProtKB/Swiss-Prot Summary for PRIMPOL Gene

  • DNA primase and DNA polymerase required to tolerate replication-stalling lesions by bypassing them (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:25255211, PubMed:24682820, PubMed:25262353, PubMed:25746449, PubMed:25550423, PubMed:27989484, PubMed:29608762, PubMed:30889508, PubMed:28534480). Required to facilitate mitochondrial and nuclear replication fork progression by initiating de novo DNA synthesis using dNTPs and acting as an error-prone DNA polymerase able to bypass certain DNA lesions (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:25255211, PubMed:24682820, PubMed:25262353, PubMed:25746449, PubMed:25550423, PubMed:27989484, PubMed:29608762, PubMed:30889508, PubMed:30633872, PubMed:28534480). Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:25746449). Provides different translesion synthesis alternatives when DNA replication is stalled: able to synthesize DNA primers downstream of lesions, such as ultraviolet (UV) lesions, R-loops and G-quadruplexes, to allow DNA replication to continue (PubMed:24240614, PubMed:26626482, PubMed:28534480, PubMed:30478192). Can also realign primers ahead of 'unreadable lesions' such as abasic sites and 6-4 photoproduct (6-4 pyrimidine-pyrimidinone), thereby skipping the lesion (PubMed:25746449). Also able to incorporate nucleotides opposite DNA lesions such as 8oxoG, like a regular translesion synthesis DNA polymerase (PubMed:24207056, PubMed:25255211, PubMed:25746449). Also required for reinitiating stalled forks after UV damage during nuclear DNA replication (PubMed:24240614). Required for mitochondrial DNA (mtDNA) synthesis and replication, by reinitiating synthesis after UV damage or in the presence of chain-terminating nucleotides (PubMed:24207056). Prevents APOBEC family-mediated DNA mutagenesis by repriming downstream of abasic site to prohibit error-prone translesion synthesis (By similarity). Has non-overlapping function with POLH (PubMed:24240614). In addition to its role in DNA damage response, also required to maintain efficient nuclear and mitochondrial DNA replication in unperturbed cells (PubMed:30715459).
  • Involved in adaptive response to cisplatin, a chemotherapeutic that causes reversal of replication forks, in cancer cells: reinitiates DNA synthesis past DNA lesions in BRCA1-deficient cancer cells treated with cisplatin via its de novo priming activity (PubMed:31676232). Repriming rescues fork degradation while leading to accumulation of internal ssDNA gaps behind the forks (PubMed:31676232). ATR regulates adaptive response to cisplatin (PubMed:31676232).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRIMPOL Gene

Genomics for PRIMPOL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PRIMPOL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRIMPOL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRIMPOL

Genomic Locations for PRIMPOL Gene

Genomic Locations for PRIMPOL Gene
chr4:184,649,667-184,694,963
(GRCh38/hg38)
Size:
45,297 bases
Orientation:
Plus strand
chr4:185,570,767-185,616,117
(GRCh37/hg19)
Size:
45,351 bases
Orientation:
Plus strand

Genomic View for PRIMPOL Gene

Genes around PRIMPOL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRIMPOL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRIMPOL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRIMPOL Gene

Proteins for PRIMPOL Gene

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

    Protein Symbol:
    Q96LW4-PRIPO_HUMAN
    Recommended name:
    DNA-directed primase/polymerase protein
    Protein Accession:
    Q96LW4
    Secondary Accessions:
    • A0A0A0MTC0
    • D3DP55
    • D6RDM1
    • Q5HYJ9

    Protein attributes for PRIMPOL Gene

    Size:
    560 amino acids
    Molecular mass:
    64412 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with RPA1; leading to recruitment to chromatin and stimulate DNA primase activity (PubMed:24126761, PubMed:25550423, PubMed:28396594, PubMed:28534480). Interacts with SSBP1 (PubMed:25550423). Interacts with POLDIP2; leading to enhance DNA polymerase activity (PubMed:26984527).

    Three dimensional structures from OCA and Proteopedia for PRIMPOL Gene

    Alternative splice isoforms for PRIMPOL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRIMPOL Gene

Post-translational modifications for PRIMPOL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PRIMPOL Gene

Domains & Families for PRIMPOL Gene

Gene Families for PRIMPOL Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PRIMPOL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRIMPOL Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 111 (CC111_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96LW4

UniProtKB/Swiss-Prot:

PRIPO_HUMAN :
  • The zinc knuckle motif binds zinc and is required for the DNA primase activity (PubMed:24682820, PubMed:29608762). It facilitates the binding and selection of the 5'-nucleotide of the newly synthesized primer and the recognition of preferred initiation sites (PubMed:29608762).
  • Belongs to the eukaryotic-type primase small subunit family.
Domain:
  • The zinc knuckle motif binds zinc and is required for the DNA primase activity (PubMed:24682820, PubMed:29608762). It facilitates the binding and selection of the 5'-nucleotide of the newly synthesized primer and the recognition of preferred initiation sites (PubMed:29608762).
  • The RPA1-binding motifs (RBM) mediate interaction with RPA1 and are essential for recruitment to chromatin (PubMed:28534480). The interaction is primarily mediated by RPA1-binding motif 1, which binds to the basic cleft of RPA1, with motif 2 plays a supporting role in RPA1-binding (PubMed:28534480).
  • The presence of an Asp-Aaa-Glu (DxE) motif in the metal-binding active site favors the use of Mn(2+) ions to achieve optimal incoming nucleotide stabilization, especially required during primer synthesis (PubMed:30889508). Glu-116 is required to stabilize the incoming nucleotide at the 3'-site (PubMed:30889508).
Family:
  • Belongs to the eukaryotic-type primase small subunit family.
genes like me logo Genes that share domains with PRIMPOL: view

Function for PRIMPOL Gene

Molecular function for PRIMPOL Gene

UniProtKB/Swiss-Prot Function:
DNA primase and DNA polymerase required to tolerate replication-stalling lesions by bypassing them (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:25255211, PubMed:24682820, PubMed:25262353, PubMed:25746449, PubMed:25550423, PubMed:27989484, PubMed:29608762, PubMed:30889508, PubMed:28534480). Required to facilitate mitochondrial and nuclear replication fork progression by initiating de novo DNA synthesis using dNTPs and acting as an error-prone DNA polymerase able to bypass certain DNA lesions (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:25255211, PubMed:24682820, PubMed:25262353, PubMed:25746449, PubMed:25550423, PubMed:27989484, PubMed:29608762, PubMed:30889508, PubMed:30633872, PubMed:28534480). Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA (PubMed:24126761, PubMed:24207056, PubMed:24240614, PubMed:24267451, PubMed:25746449). Provides different translesion synthesis alternatives when DNA replication is stalled: able to synthesize DNA primers downstream of lesions, such as ultraviolet (UV) lesions, R-loops and G-quadruplexes, to allow DNA replication to continue (PubMed:24240614, PubMed:26626482, PubMed:28534480, PubMed:30478192). Can also realign primers ahead of 'unreadable lesions' such as abasic sites and 6-4 photoproduct (6-4 pyrimidine-pyrimidinone), thereby skipping the lesion (PubMed:25746449). Also able to incorporate nucleotides opposite DNA lesions such as 8oxoG, like a regular translesion synthesis DNA polymerase (PubMed:24207056, PubMed:25255211, PubMed:25746449). Also required for reinitiating stalled forks after UV damage during nuclear DNA replication (PubMed:24240614). Required for mitochondrial DNA (mtDNA) synthesis and replication, by reinitiating synthesis after UV damage or in the presence of chain-terminating nucleotides (PubMed:24207056). Prevents APOBEC family-mediated DNA mutagenesis by repriming downstream of abasic site to prohibit error-prone translesion synthesis (By similarity). Has non-overlapping function with POLH (PubMed:24240614). In addition to its role in DNA damage response, also required to maintain efficient nuclear and mitochondrial DNA replication in unperturbed cells (PubMed:30715459).
UniProtKB/Swiss-Prot Function:
Involved in adaptive response to cisplatin, a chemotherapeutic that causes reversal of replication forks, in cancer cells: reinitiates DNA synthesis past DNA lesions in BRCA1-deficient cancer cells treated with cisplatin via its de novo priming activity (PubMed:31676232). Repriming rescues fork degradation while leading to accumulation of internal ssDNA gaps behind the forks (PubMed:31676232). ATR regulates adaptive response to cisplatin (PubMed:31676232).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=14 uM for dTTP (in presence of 2 mM of Mn(2+) {ECO:0000269|PubMed:30633872}; KM=24 uM for dTTP (in presence of 50 uM of Mn(2+) {ECO:0000269|PubMed:30633872}; KM=430 uM for dTTP (in presence of 2 mM of Mg(2+) {ECO:0000269|PubMed:30633872}; Note=Kcat is 0.05 sec(-1) for dTTP (in presence of 2 mM of Mn(2+). Kcat is 0.02 sec(-1) for dTTP (in presence of 50 uM of Mn(2+). Kcat is 0.01 sec(-1) for dTTP (in presence of 2 mM of Mg(2+).;

Enzyme Numbers (IUBMB) for PRIMPOL Gene

Phenotypes From GWAS Catalog for PRIMPOL Gene

Gene Ontology (GO) - Molecular Function for PRIMPOL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IBA,IDA 24240614
GO:0003887 DNA-directed DNA polymerase activity IBA,IDA 24207056
GO:0003896 DNA primase activity IDA 24207056
GO:0003899 DNA-directed 5'-3' RNA polymerase activity IEA --
GO:0005515 protein binding IPI 24126761
genes like me logo Genes that share ontologies with PRIMPOL: view
genes like me logo Genes that share phenotypes with PRIMPOL: view

Human Phenotype Ontology for PRIMPOL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRIMPOL Gene

MGI Knock Outs for PRIMPOL:

Animal Model Products

CRISPR Products

miRNA for PRIMPOL Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRIMPOL

No data available for Transcription Factor Targets and HOMER Transcription for PRIMPOL Gene

Localization for PRIMPOL Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRIMPOL Gene

Nucleus. Mitochondrion matrix. Chromosome. Note=Present in the nucleus, but a larger fraction is localized inside mitochondria (PubMed:24207056). Associates with nuclear chromatin during the G1 and S phases of unperturbed cell cycles (PubMed:24207056). Recruited to stalled replication forks following interaction with RPA1 (PubMed:28534480). {ECO:0000269 PubMed:24207056, ECO:0000269 PubMed:28534480}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRIMPOL gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRIMPOL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 24207056
GO:0005657 replication fork IDA 28534480
GO:0005694 chromosome IEA --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IBA,IDA 24207056
genes like me logo Genes that share ontologies with PRIMPOL: view

Pathways & Interactions for PRIMPOL Gene

PathCards logo

SuperPathways for PRIMPOL Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRIMPOL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006264 mitochondrial DNA replication IBA,IMP 24207056
GO:0006269 DNA replication, synthesis of RNA primer IEA --
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0009411 response to UV IBA,IDA 24240614
genes like me logo Genes that share ontologies with PRIMPOL: view

No data available for Pathways by source and SIGNOR curated interactions for PRIMPOL Gene

Drugs & Compounds for PRIMPOL Gene

No Compound Related Data Available

Transcripts for PRIMPOL Gene

mRNA/cDNA for PRIMPOL Gene

14 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRIMPOL

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

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6: - - -
SP7: -

Relevant External Links for PRIMPOL Gene

GeneLoc Exon Structure for
PRIMPOL

Expression for PRIMPOL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRIMPOL Gene

Protein differential expression in normal tissues from HIPED for PRIMPOL Gene

This gene is overexpressed in Fetal heart (55.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRIMPOL Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRIMPOL

Evidence on tissue expression from TISSUES for PRIMPOL Gene

  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRIMPOL Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PRIMPOL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PRIMPOL Gene

Orthologs for PRIMPOL Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRIMPOL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC111 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC111 30
  • 86.52 (n)
PRIMPOL 31
  • 81 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PRIMPOL 30
  • 86.13 (n)
CCDC111 31
  • 84 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc111 30
  • 81.33 (n)
Mouse
(Mus musculus)
Mammalia Primpol 30 17
  • 80.69 (n)
Ccdc111 31
  • 75 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PRIMPOL 31
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PRIMPOL 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC111 30 31
  • 64.72 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PRIMPOL 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia primpol 30
  • 67.59 (n)
Str.14684 30
Zebrafish
(Danio rerio)
Actinopterygii primpol 30 31
  • 58.04 (n)
OneToOne
Species where no ortholog for PRIMPOL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PRIMPOL Gene

ENSEMBL:
Gene Tree for PRIMPOL (if available)
TreeFam:
Gene Tree for PRIMPOL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRIMPOL: view image

Paralogs for PRIMPOL Gene

(1) SIMAP similar genes for PRIMPOL Gene using alignment to 5 proteins:

  • PRIPO_HUMAN
  • D6R908_HUMAN
  • D6R971_HUMAN
  • D6RAH5_HUMAN
  • H0Y9N8_HUMAN

Pseudogenes.org Pseudogenes for PRIMPOL Gene

genes like me logo Genes that share paralogs with PRIMPOL: view

No data available for Paralogs for PRIMPOL Gene

Variants for PRIMPOL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRIMPOL Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
723431 Likely Benign: not provided 184,659,378(+) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
785110 Benign: not provided 184,659,403(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs200857997 Conflicting Interpretations: Myopia 22, autosomal dominant. Myopia 22, autosomal dominant (MYP22) [MIM:615420] 184,659,424(+) T/Gp.Tyr89Asp MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs14969 - p.Thr505Lys
rs2463447 - p.Arg168Gln

Additional dbSNP identifiers (rs#s) for PRIMPOL Gene

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

Variant ID Type Subtype PubMed ID
dgv2968n106 CNV deletion 24896259
esv1016309 CNV deletion 17803354
esv2039482 CNV deletion 18987734
esv2728896 CNV deletion 23290073
esv2728897 CNV deletion 23290073
esv2763423 CNV loss 21179565
esv3603464 CNV loss 21293372
esv4506 CNV loss 18987735
nsv1026074 CNV gain 25217958
nsv1073822 CNV deletion 25765185
nsv1074779 CNV deletion 25765185
nsv290083 CNV deletion 16902084
nsv291514 CNV deletion 16902084
nsv830168 CNV loss 17160897
nsv949859 CNV deletion 24416366
nsv958221 CNV deletion 24416366

Variation tolerance for PRIMPOL Gene

Residual Variation Intolerance Score: 77.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.31; 76.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRIMPOL Gene

Human Gene Mutation Database (HGMD)
PRIMPOL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRIMPOL

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

Disorders for PRIMPOL Gene

MalaCards: The human disease database

(13) MalaCards diseases for PRIMPOL Gene - From: OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopia 22, autosomal dominant
  • myp22
myopia
  • near vision
refractive error
  • refractive errors
mitochondrial dna depletion syndrome 8a
  • mtdps8a
mitochondrial dna depletion syndrome 11
  • mtdps11
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PRIPO_HUMAN
  • Myopia 22, autosomal dominant (MYP22) [MIM:615420]: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269 PubMed:23579484, ECO:0000269 PubMed:25262353}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with PRIMPOL: view

No data available for Genatlas for PRIMPOL Gene

Publications for PRIMPOL Gene

  1. hPrimpol1/CCDC111 is a human DNA primase-polymerase required for the maintenance of genome integrity. (PMID: 24126761) Wan L … Huang J (EMBO reports 2013) 2 3 4
  2. PrimPol, an archaic primase/polymerase operating in human cells. (PMID: 24207056) García-Gómez S … Blanco L (Molecular cell 2013) 2 3 4
  3. The invariant glutamate of human PrimPol DxE motif is critical for its Mn2+-dependent distinctive activities. (PMID: 30889508) Calvo PA … Blanco L (DNA repair 2019) 3 4
  4. PrimPol is required for the maintenance of efficient nuclear and mitochondrial DNA replication in human cells. (PMID: 30715459) Bailey LJ … Doherty AJ (Nucleic acids research 2019) 3 4
  5. R-loop formation during S phase is restricted by PrimPol-mediated repriming. (PMID: 30478192) Šviković S … Sale JE (The EMBO journal 2019) 3 4

Products for PRIMPOL Gene

  • Biorbyt antibodies for PRIMPOL

Sources for PRIMPOL Gene