PRIMPOL (primase and DNA directed polymerase)

2017-08-01  

Identity

HGNC
PRIMPOL
LOCATION
4q35.1
LOCUSID
201973
ALIAS
CCDC111,MYP22,Primpol1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 201973
MIM: 615421
HGNC: 26575
Ensembl: ENSG00000164306

Variants:

dbSNP: 201973
ClinVar: 201973
TCGA: ENSG00000164306
COSMIC: PRIMPOL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164306ENST00000314970Q96LW4
ENSG00000164306ENST00000503752Q96LW4
ENSG00000164306ENST00000506278D6R908
ENSG00000164306ENST00000508001H0Y9N8
ENSG00000164306ENST00000509002D6R971
ENSG00000164306ENST00000512834Q96LW4
ENSG00000164306ENST00000515152D6R908
ENSG00000164306ENST00000515774D3DP56

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
242070562013PrimPol, an archaic primase/polymerase operating in human cells.122
242674512013PrimPol bypasses UV photoproducts during eukaryotic chromosomal DNA replication.83
241267612013hPrimpol1/CCDC111 is a human DNA primase-polymerase required for the maintenance of genome integrity.65
266264822016PrimPol Is Required for Replicative Tolerance of G Quadruplexes in Vertebrate Cells.45
246828202014Molecular dissection of the domain architecture and catalytic activities of human PrimPol.41
255504232015Human PrimPol is a highly error-prone polymerase regulated by single-stranded DNA binding proteins.29
257464492015Alternative solutions and new scenarios for translesion DNA synthesis by human PrimPol.25
235794842013Exome sequencing reveals CCDC111 mutation associated with high myopia.24
266272542015Rad51 recombinase prevents Mre11 nuclease-dependent degradation and excessive PrimPol-mediated elongation of nascent DNA after UV irradiation.22
252552112014Kinetic analysis of human PrimPol DNA polymerase activity reveals a generally error-prone enzyme capable of accurately bypassing 7,8-dihydro-8-oxo-2'-deoxyguanosine.19

Citation

Dessen P

PRIMPOL (primase and DNA directed polymerase)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/57026/primpol