POLA1 (DNA polymerase alpha 1, catalytic subunit)

2003-02-01  

Identity

HGNC
POLA1
LOCATION
Xp22.11
LOCUSID
5422
ALIAS
NSX,POLA,VEODS,p180
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5422
MIM: 312040
HGNC: 9173
Ensembl: ENSG00000101868

Variants:

dbSNP: 5422
ClinVar: 5422
TCGA: ENSG00000101868
COSMIC: POLA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101868ENST00000379059P09884
ENSG00000101868ENST00000379068A6NMQ1
ENSG00000101868ENST00000611764A0A087WU64

Expression (GTEx)

0
5
10
15
20
25
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

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Pyrimidine metabolismKEGGko00240
DNA replicationKEGGko03030
Purine metabolismKEGGhsa00230
Pyrimidine metabolismKEGGhsa00240
DNA replicationKEGGhsa03030
Metabolic pathwaysKEGGhsa01100
DNA polymerase alpha / primase complexKEGGhsa_M00261
DNA polymerase alpha / primase complexKEGGM00261
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G1-G1/S phasesREACTOMER-HSA-453279
G1/S TransitionREACTOMER-HSA-69206
G1/S-Specific TranscriptionREACTOMER-HSA-69205
Activation of the pre-replicative complexREACTOMER-HSA-68962
E2F mediated regulation of DNA replicationREACTOMER-HSA-113510
Inhibition of replication initiation of damaged DNA by RB1/E2F1REACTOMER-HSA-113501
S PhaseREACTOMER-HSA-69242
Synthesis of DNAREACTOMER-HSA-69239
DNA replication initiationREACTOMER-HSA-68952
DNA strand elongationREACTOMER-HSA-69190
Leading Strand SynthesisREACTOMER-HSA-69109
Polymerase switchingREACTOMER-HSA-69091
Lagging Strand SynthesisREACTOMER-HSA-69186
Processive synthesis on the lagging strandREACTOMER-HSA-69183
Removal of the Flap IntermediateREACTOMER-HSA-69166
M/G1 TransitionREACTOMER-HSA-68874
DNA Replication Pre-InitiationREACTOMER-HSA-69002
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Extension of TelomeresREACTOMER-HSA-180786
Telomere C-strand (Lagging Strand) SynthesisREACTOMER-HSA-174417
Telomere C-strand synthesis initiationREACTOMER-HSA-174430
Polymerase switching on the C-strand of the telomereREACTOMER-HSA-174411
DNA ReplicationREACTOMER-HSA-69306

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
337318012021Pol α-primase dependent nuclear localization of the mammalian CST complex.11
343766932021Small tandem DNA duplications result from CST-guided Pol α-primase action at DNA break termini.18
337318012021Pol α-primase dependent nuclear localization of the mammalian CST complex.11
343766932021Small tandem DNA duplications result from CST-guided Pol α-primase action at DNA break termini.18
310065122019Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.17
310065122019Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.17
295556822018Activity and fidelity of human DNA polymerase α depend on primer structure.18
295556822018Activity and fidelity of human DNA polymerase α depend on primer structure.18
283203882017Exploring the FGFR3-related oncogenic mechanism in bladder cancer using bioinformatics strategy.8
283713022017Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.1
283203882017Exploring the FGFR3-related oncogenic mechanism in bladder cancer using bioinformatics strategy.8
283713022017Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.1
270192272016DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.63
270192272016DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.63
270328192016Human DNA polymerase α in binary complex with a DNA:DNA template-primer.23

Citation

Dessen P

POLA1 (DNA polymerase alpha 1, catalytic subunit)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41768/js/lib/js/teaching-explorer/