DNA polymerase epsilon, catalytic subunit

Summary
Gene Symbol
  • POLE
Aliases
  • DNA polymerase epsilon catalytic subunit A
  • POLE1
Organism
Homo sapiens (human)
NCBI Gene
5426
HGNC
9177
PubChem
5426
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • 4Fe-4S
  • DNA repair
  • DNA replication
  • DNA-binding
  • DNA-directed DNA polymerase
  • Direct protein sequencing
  • Disease variant
  • Hydrolase
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Zinc-finger
Proteins
Displaying 1 entry
UniProt Protein Name
Q07864
  • 3'-5' exodeoxyribonuclease
  • DNA polymerase II subunit A
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying entries 1 - 10 of 21 in total
DO ID Disease Name Source
DOID:0112182 mismatch repair cancer syndrome
DOID:10021 duodenum cancer
DOID:10283 prostate cancer
DOID:1324 lung cancer
DOID:1380 endometrial cancer
DOID:162 cancer
DOID:218 ascending colon cancer
DOID:2394 ovarian cancer
DOID:263 kidney cancer
DOID:2871 endometrial carcinoma
The Human Phenotype Ontology
Displaying entries 1 - 10 of 110 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000047 Hypospadias
HP:0000054 Micropenis
HP:0000078 Abnormality of the genital system
HP:0000126 Hydronephrosis
HP:0000135 Hypogonadism
HP:0000252 Microcephaly
HP:0000272 Malar flattening
Displaying all 6 entries
Disease ID Disease Name
ORPHA:447877
  • Polymerase proofreading-related adenomatous polyposis
OMIM:615139
  • facial dysmorphism-immunodeficiency-livedo-short stature syndrome
ORPHA:440437
  • familial colorectal cancer type X
OMIM:618336
  • intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
OMIM:615083
  • colorectal cancer, susceptibility to, 12
ORPHA:85173
  • IMAGe syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024