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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
  • Primase And Polymerase (DNA-Directed) 2 3
  • Coiled-Coil Domain Containing 111 2 3
  • HPrimpol1 3 4
  • CCDC111 3 4
  • EC 2.7.7.- 4
  • 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

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 Entrez Gene 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around PRIMPOL on UCSC Golden Path with GeneCards custom track

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.

    Alternative splice isoforms for PRIMPOL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRIMPOL Gene

Proteomics data for PRIMPOL Gene at MOPED

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

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:0003896 DNA primase activity IEA,IDA 24207056
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

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.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for PRIMPOL Gene

Pathways & Interactions for PRIMPOL Gene

SuperPathways for PRIMPOL Gene

No Data Available

Interacting Proteins for PRIMPOL Gene

Selected Interacting proteins: Q96LW4-PRIPO_HUMAN for PRIMPOL Gene via UniProtKB I2D

Gene Ontology (GO) - Biological Process for PRIMPOL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019985 translesion synthesis IMP 24240614
GO:0031297 replication fork processing IMP 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

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 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, MOPED, and MaxQB for PRIMPOL Gene



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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia PRIMPOL 35
  • 86.13 (n)
  • 83.96 (a)
CCDC111 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC111 35
  • 86.52 (n)
  • 81.77 (a)
PRIMPOL 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Primpol 35
  • 80.69 (n)
  • 75.7 (a)
Primpol 16
Ccdc111 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC111 35
  • 99.46 (n)
  • 98.75 (a)
CCDC111 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc111 35
  • 81.33 (n)
  • 76.88 (a)
oppossum
(Monodelphis domestica)
Mammalia PRIMPOL 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRIMPOL 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC111 35
  • 64.72 (n)
  • 59.48 (a)
CCDC111 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRIMPOL 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia primpol 35
  • 67.59 (n)
  • 65.97 (a)
Str.14684 35
zebrafish
(Danio rerio)
Actinopterygii primpol 35
  • 58.04 (n)
  • 52.94 (a)
primpol 36
  • 50 (a)
OneToOne
Species with no ortholog for PRIMPOL:
  • 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:

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
rs2463447 - 184,666,011(+) CAGCC(A/G)GCATT intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
VAR_030879 -
VAR_070120 Myopia 22, autosomal dominant (MYP22)
rs870820 -- 184,666,165(+) GGTCA(G/T)TAACT intron-variant
rs870821 -- 184,666,223(+) aattc(C/T)agcac intron-variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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. 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 67
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Human PrimPol is a highly error-prone polymerase regulated by single-stranded DNA binding proteins. (PMID: 25550423) Guilliam T.A. … Doherty A.J. (Nucleic Acids Res. 2015) 3
  4. Alternative solutions and new scenarios for translesion DNA synthesis by human PrimPol. (PMID: 25746449) MartA-nez-JimAcnez M.I. … Blanco L. (DNA Repair (Amst.) 2015) 3
  5. Rad51 recombinase prevents Mre11 nuclease-dependent degradation and excessive PrimPol-mediated elongation of nascent DNA after UV irradiation. (PMID: 26627254) Vallerga M.B. … Gottifredi V. (Proc. Natl. Acad. Sci. U.S.A. 2015) 3

Products for PRIMPOL Gene

Sources for PRIMPOL Gene

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