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Aliases for PRIMPOL Gene

Aliases for PRIMPOL Gene

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

  • DNA primase and DNA polymerase able to initiate de novo DNA synthesis using dNTPs. Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA. Involved in translesion synthesis via its primase activity by mediating uninterrupted fork progression after programmed or damage-induced fork arrest and by reinitiating DNA synthesis after dNTP depletion. Required for mitochondrial DNA (mtDNA) synthesis, suggesting it may be involved in DNA tolerance during the replication of mitochondrial DNA. Has non-overlapping function with POLH.

Additional gene information for PRIMPOL Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRIMPOL Gene

Genomics for PRIMPOL Gene

GeneHancer (GH) Regulatory Elements for PRIMPOL Gene

Promoters and enhancers for PRIMPOL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I184644 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 558.4 -1.7 -1693 6.3 HDGF ZFP64 ARID4B SIN3A IRF4 POLR2B ZNF213 E2F8 ZNF143 SP3 PRIMPOL CASP3 CENPU ACSL1 IRF2 LINC02365
GH04I184731 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 34.8 +83.8 83755 3.3 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 CENPU PRIMPOL UFSP2 SNX25 CFAP97 GC04P184696
GH04I184470 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.4 -175.6 -175632 6.7 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 IRF2 ENSG00000270426 ENSG00000271646 TRAPPC11 PRIMPOL CASP3 SNX25 ACSL1
GH04I185201 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 24.3 +553.8 553830 4.2 PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 CFAP97 SNX25 PRIMPOL GC04P185149
GH04I184684 Enhancer 1.4 FANTOM5 Ensembl ENCODE 28.2 +35.2 35162 1.3 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 ATF7 NCOA1 ZNF592 PRIMPOL CASP3 CENPU IRF2 GC04P184696
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PRIMPOL on UCSC Golden Path with GeneCards custom track

Genomic Locations for PRIMPOL Gene

Genomic Locations for PRIMPOL Gene
chr4:184,649,613-184,694,963
(GRCh38/hg38)
Size:
45,351 bases
Orientation:
Plus strand
chr4:185,570,767-185,616,117
(GRCh37/hg19)

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:
    • D3DP55
    • D6RDM1
    • Q5HYJ9

    Protein attributes for PRIMPOL Gene

    Size:
    560 amino acids
    Molecular mass:
    64383 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with RPA1.

    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

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

Protein Domains for PRIMPOL Gene

ProtoNet:

Suggested Antigen Peptide Sequences for PRIMPOL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96LW4

UniProtKB/Swiss-Prot:

PRIPO_HUMAN :
  • Belongs to the eukaryotic-type primase small subunit family.
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 able to initiate de novo DNA synthesis using dNTPs. Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA. Involved in translesion synthesis via its primase activity by mediating uninterrupted fork progression after programmed or damage-induced fork arrest and by reinitiating DNA synthesis after dNTP depletion. Required for mitochondrial DNA (mtDNA) synthesis, suggesting it may be involved in DNA tolerance during the replication of mitochondrial DNA. Has non-overlapping function with POLH.

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 IDA 24240614
GO:0003887 DNA-directed DNA polymerase activity IDA,IEA 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:

miRNA for PRIMPOL Gene

Clone Products

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. Note=Present in the nucleus, but a larger fraction is localized inside mitochondria. Associates with nuclear chromatin during the G1 and S phases of unperturbed cell cycles.

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

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 IDA,IEA 24207056
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IDA,IEA 24207056
genes like me logo Genes that share ontologies with PRIMPOL: view

Pathways & Interactions for PRIMPOL Gene

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 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 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

Clone Products

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
ECgene alternative splicing isoforms for
PRIMPOL

Expression for PRIMPOL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PRIMPOL Gene



NURSA nuclear receptor signaling pathways regulating expression of PRIMPOL Gene:

PRIMPOL

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 , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 33 34
  • 99.46 (n)
dog
(Canis familiaris)
Mammalia CCDC111 33
  • 86.52 (n)
PRIMPOL 34
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRIMPOL 33
  • 86.13 (n)
CCDC111 34
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc111 33
  • 81.33 (n)
mouse
(Mus musculus)
Mammalia Primpol 33 16
  • 80.69 (n)
Ccdc111 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRIMPOL 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRIMPOL 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC111 33 34
  • 64.72 (n)
lizard
(Anolis carolinensis)
Reptilia PRIMPOL 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia primpol 33
  • 67.59 (n)
Str.14684 33
zebrafish
(Danio rerio)
Actinopterygii primpol 33 34
  • 58.04 (n)
Species where no ortholog for PRIMPOL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for PRIMPOL Gene

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

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 from dbSNP and Humsavar for PRIMPOL Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs200857997 pathogenic, Myopia 22, autosomal dominant 184,659,424(+) T/C/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
VAR_070120 Myopia 22, autosomal dominant (MYP22) [MIM:615420] p.Tyr89Asp
rs1000002401 -- 184,654,170(+) T/C intron_variant
rs1000024343 -- 184,653,395(+) C/G intron_variant
rs1000037394 -- 184,678,796(+) A/G intron_variant

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

(3) MalaCards diseases for PRIMPOL Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myopia 22, autosomal dominant
  • myp22
myopia
  • near vision
refractive error
  • refractive errors
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PRIMPOL

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

No data available for Genatlas for PRIMPOL Gene

Publications for PRIMPOL Gene

  1. Exome sequencing reveals CCDC111 mutation associated with high myopia. (PMID: 23579484) Zhao F … Zhou X (Human genetics 2013) 3 4 58
  2. hPrimpol1/CCDC111 is a human DNA primase-polymerase required for the maintenance of genome integrity. (PMID: 24126761) Wan L … Huang J (EMBO reports 2013) 3 4 58
  3. PrimPol, an archaic primase/polymerase operating in human cells. (PMID: 24207056) García-Gómez S … Blanco L (Molecular cell 2013) 3 4 58
  4. Repriming of DNA synthesis at stalled replication forks by human PrimPol. (PMID: 24240614) Mourón S … Méndez J (Nature structural & molecular biology 2013) 3 4 58
  5. PrimPol bypasses UV photoproducts during eukaryotic chromosomal DNA replication. (PMID: 24267451) Bianchi J … Doherty AJ (Molecular cell 2013) 3 4 58

Products for PRIMPOL Gene

Sources for PRIMPOL Gene

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