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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. 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.

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

Regulatory Elements for PRIMPOL Gene

Enhancers for PRIMPOL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G184280 2 FANTOM5 Ensembl ENCODE dbSUPER 21.1 -367.2 -367166 4.5 HDGF FOXA2 PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 FEZF1 PRIMPOL MYL12BP2 CDKN2AIP ENSG00000251878 RNU6-1053P LINC02363 ENPP6 CENPU CASP3 IRF2
GH04G184470 1.7 FANTOM5 ENCODE dbSUPER 20.8 -175.6 -175633 6.7 MLX CREB3L1 AGO1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 PRIMPOL CASP3 RNU6-1053P ACSL1 IRF2 ENSG00000270426
GH04G184684 1.6 FANTOM5 Ensembl ENCODE 18.6 +35.2 35162 1.3 ATF1 ARNT TCF12 ZNF766 ELK1 GATA2 NCOA1 ZNF592 MEF2D MBD2 PRIMPOL CASP3 CENPU IRF2 GC04P184696
GH04G183875 1.2 Ensembl ENCODE 19.1 -773.3 -773271 2.1 ZSCAN4 INSM2 KLF17 FEZF1 BRCA1 ZNF2 GLIS2 GATA2 ZNF366 ZSCAN5C PRIMPOL STOX2 RNU6-1053P GC04P183820 ENSG00000248206
GH04G184342 2 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -303.1 -303142 8.8 HDGF PKNOX1 FOXA2 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 LINC02363 IRF2 ENSG00000251878 CASP3 PRIMPOL CFAP97 ACSL1 GC04P184303
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRIMPOL on UCSC Golden Path with GeneCards custom track

Promoters for PRIMPOL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000176954 -313 2601 HDGF AGO1 ZFP64 ARID4B SIN3A FOS SP3 SP5 REST ZNF592

Genomic Location for PRIMPOL Gene

Chromosome:
4
Start:
184,649,613 bp from pter
End:
184,694,963 bp from pter
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:
    • 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

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

No data available for Gene Families for PRIMPOL Gene

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

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 IEA,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

miRNA for PRIMPOL Gene

Inhibitory RNA 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

Gene Ontology (GO) - Cellular Components for PRIMPOL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 24207056
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA,IDA 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

Inhibitory RNA 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
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PRIMPOL: view

Primer Products

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 35 34
  • 99.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC111 34
  • 86.52 (n)
PRIMPOL 35
  • 81 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRIMPOL 34
  • 86.13 (n)
CCDC111 35
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc111 34
  • 81.33 (n)
mouse
(Mus musculus)
Mammalia Primpol 34 16
  • 80.69 (n)
Ccdc111 35
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRIMPOL 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRIMPOL 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC111 34 35
  • 64.72 (n)
lizard
(Anolis carolinensis)
Reptilia PRIMPOL 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia primpol 34
  • 67.59 (n)
Str.14684 34
zebrafish
(Danio rerio)
Actinopterygii primpol 34 35
  • 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 Sequence Context AA Info Type
VAR_070120 Myopia 22, autosomal dominant (MYP22) [MIM:615420]
rs200857997 Pathogenic 184,659,424(+) GGTTT(C/G/T)ACTAT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1000002401 -- 184,654,170(+) TAAAA(C/T)TTCAG intron-variant
rs1000024343 -- 184,653,395(+) TTTTT(C/G)TAGCT intron-variant
rs1000037394 -- 184,678,796(+) GTGCT(A/G)GGATT 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)

Relevant External Links 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: 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.

Relevant External Links for PRIMPOL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Hum. Genet. 2013) 3 4 64
  2. hPrimpol1/CCDC111 is a human DNA primase-polymerase required for the maintenance of genome integrity. (PMID: 24126761) Wan L. … Huang J. (EMBO Rep. 2013) 3 4 64
  3. PrimPol, an archaic primase/polymerase operating in human cells. (PMID: 24207056) Garcia-Gomez S. … Blanco L. (Mol. Cell 2013) 3 4 64
  4. Repriming of DNA synthesis at stalled replication forks by human PrimPol. (PMID: 24240614) Mouron S. … Mendez J. (Nat. Struct. Mol. Biol. 2013) 3 4 64
  5. PrimPol bypasses UV photoproducts during eukaryotic chromosomal DNA replication. (PMID: 24267451) Bianchi J. … Doherty A.J. (Mol. Cell 2013) 3 4 64

Products for PRIMPOL Gene

Sources for PRIMPOL Gene

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