Seroatlas · Human Serome Atlas

POLE

DNA polymerase epsilon catalytic subunit A

Also known as: DPOE1_HUMAN, POLE1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q07864
Gene: POLE
Ensembl: ENSG00000177084
Chromosome: 12
Canonical length: 2286 aa
Protein class: Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane

OverviewNCBI Gene

This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

Canonical amino-acid sequenceUniProt

2286 residues, UniProt reviewed canonical sequence.

>Q07864|POLE
     1  MSLRSGGRRR ADPGADGEAS RDDGATSSVS ALKRLERSQW TDKMDLRFGF ERLKEPGEKT
    61  GWLINMHPTE ILDEDKRLGS AVDYYFIQDD GSRFKVALPY KPYFYIATRK GCEREVSSFL
   121  SKKFQGKIAK VETVPKEDLD LPNHLVGLKR NYIRLSFHTV EDLVKVRKEI SPAVKKNREQ
   181  DHASDAYTAL LSSVLQRGGV ITDEEETSKK IADQLDNIVD MREYDVPYHI RLSIDLKIHV
   241  AHWYNVRYRG NAFPVEITRR DDLVERPDPV VLAFDIETTK LPLKFPDAET DQIMMISYMI
   301  DGQGYLITNR EIVSEDIEDF EFTPKPEYEG PFCVFNEPDE AHLIQRWFEH VQETKPTIMV
   361  TYNGDFFDWP FVEARAAVHG LSMQQEIGFQ KDSQGEYKAP QCIHMDCLRW VKRDSYLPVG
   421  SHNLKAAAKA KLGYDPVELD PEDMCRMATE QPQTLATYSV SDAVATYYLY MKYVHPFIFA
   481  LCTIIPMEPD EVLRKGSGTL CEALLMVQAF HANIIFPNKQ EQEFNKLTDD GHVLDSETYV
   541  GGHVEALESG VFRSDIPCRF RMNPAAFDFL LQRVEKTLRH ALEEEEKVPV EQVTNFEEVC
   601  DEIKSKLASL KDVPSRIECP LIYHLDVGAM YPNIILTNRL QPSAMVDEAT CAACDFNKPG
   661  ANCQRKMAWQ WRGEFMPASR SEYHRIQHQL ESEKFPPLFP EGPARAFHEL SREEQAKYEK
   721  RRLADYCRKA YKKIHITKVE ERLTTICQRE NSFYVDTVRA FRDRRYEFKG LHKVWKKKLS
   781  AAVEVGDAAE VKRCKNMEVL YDSLQLAHKC ILNSFYGYVM RKGARWYSME MAGIVCFTGA
   841  NIITQARELI EQIGRPLELD TDGIWCVLPN SFPENFVFKT TNVKKPKVTI SYPGAMLNIM
   901  VKEGFTNDQY QELAEPSSLT YVTRSENSIF FEVDGPYLAM ILPASKEEGK KLKKRYAVFN
   961  EDGSLAELKG FEVKRRGELQ LIKIFQSSVF EAFLKGSTLE EVYGSVAKVA DYWLDVLYSK
  1021  AANMPDSELF ELISENRSMS RKLEDYGEQK STSISTAKRL AEFLGDQMVK DAGLSCRYII
  1081  SRKPEGSPVT ERAIPLAIFQ AEPTVRKHFL RKWLKSSSLQ DFDIRAILDW DYYIERLGSA
  1141  IQKIITIPAA LQQVKNPVPR VKHPDWLHKK LLEKNDVYKQ KKISELFTLE GRRQVTMAEA
  1201  SEDSPRPSAP DMEDFGLVKL PHPAAPVTVK RKRVLWESQE ESQDLTPTVP WQEILGQPPA
  1261  LGTSQEEWLV WLRFHKKKWQ LQARQRLARR KRQRLESAEG VLRPGAIRDG PATGLGSFLR
  1321  RTARSILDLP WQIVQISETS QAGLFRLWAL VGSDLHCIRL SIPRVFYVNQ RVAKAEEGAS
  1381  YRKVNRVLPR SNMVYNLYEY SVPEDMYQEH INEINAELSA PDIEGVYETQ VPLLFRALVH
  1441  LGCVCVVNKQ LVRHLSGWEA ETFALEHLEM RSLAQFSYLE PGSIRHIYLY HHAQAHKALF
  1501  GIFIPSQRRA SVFVLDTVRS NQMPSLGALY SAEHGLLLEK VGPELLPPPK HTFEVRAETD
  1561  LKTICRAIQR FLLAYKEERR GPTLIAVQSS WELKRLASEI PVLEEFPLVP ICVADKINYG
  1621  VLDWQRHGAR RMIRHYLNLD TCLSQAFEMS RYFHIPIGNL PEDISTFGSD LFFARHLQRH
  1681  NHLLWLSPTA RPDLGGKEAD DNCLVMEFDD QATVEINSSG CYSTVCVELD LQNLAVNTIL
  1741  QSHHVNDMEG ADSMGISFDV IQQASLEDMI TGGQAASAPA SYDETALCSN TFRILKSMVV
  1801  GWVKEITQYH NIYADNQVMH FYRWLRSPSS LLHDPALHRT LHNMMKKLFL QLIAEFKRLG
  1861  SSVIYANFNR IILCTKKRRV EDAIAYVEYI TSSIHSKETF HSLTISFSRC WEFLLWMDPS
  1921  NYGGIKGKVS SRIHCGLQDS QKAGGAEDEQ ENEDDEEERD GEEEEEAEES NVEDLLENNW
  1981  NILQFLPQAA SCQNYFLMIV SAYIVAVYHC MKDGLRRSAP GSTPVRRRGA SQLSQEAEGA
  2041  VGALPGMITF SQDYVANELT QSFFTITQKI QKKVTGSRNS TELSEMFPVL PGSHLLLNNP
  2101  ALEFIKYVCK VLSLDTNITN QVNKLNRDLL RLVDVGEFSE EAQFRDPCRS YVLPEVICRS
  2161  CNFCRDLDLC KDSSFSEDGA VLPQWLCSNC QAPYDSSAIE MTLVEVLQKK LMAFTLQDLV
  2221  CLKCRGVKET SMPVYCSCAG DFALTIHTQV FMEQIGIFRN IAQHYGMSYL LETLEWLLQK
  2281  NPQLGH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POLE can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 21 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 21 nTPM
thymus: 14 nTPM
skin: 11 nTPM
testis: 9.4 nTPM
spleen: 8.4 nTPM
small intestine: 6.3 nTPM

Single-cell type

neutrophil progenitors: 126 nCPM
early primary spermatocytes: 97 nCPM
erythrocyte progenitors: 74 nCPM
megakaryocyte progenitors: 61 nCPM
megakaryocyte-erythroid progenitors: 58 nCPM
monocyte progenitors: 50 nCPM

Immune cell

MAIT T-cell: 0.1 nTPM
myeloid DC: 0.1 nTPM
non-classical monocyte: 0.1 nTPM
T-reg: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

cerebellum: 9.4 nTPM
hippocampal formation: 5.5 nTPM
cerebral cortex: 4.6 nTPM
choroid plexus: 3.8 nTPM
thalamus: 3.6 nTPM
white matter: 3.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POLE.

Disease | AllUniProt

Conditions POLE is implicated in, by any mechanism.

Colorectal cancer 12 (CRCS12) MIM:615083
Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) MIM:615139
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency (IMAGEI) MIM:618336

Disease | GeneticClinVar

474 pathogenic / likely-pathogenic of 11,065 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Colorectal cancer, susceptibility to, 12
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
Hereditary cancer-predisposing syndrome
POLE-related disorder

Disease | ImmuneIEDB

Conditions an epitope on POLE was assayed in.

endometrial cancer T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.64
gnomAD pLI: 0
gnomAD missense Z: 1.07
DepMap mean gene effect: -1.52
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

DNA-directed DNA polymerase, family B, exonuclease domain
DNA-directed DNA polymerase, family B
Ribonuclease H-like superfamily
DNA polymerase, palm domain superfamily
Ribonuclease H superfamily
DNA polymerase family B, thumb domain
DNA/RNA polymerase superfamily
DNA polymerase family B, exonuclease domain
DNA polymerase epsilon, catalytic subunit A, C-terminal
DNA polymerase epsilon catalytic subunit
DNA polymerase-epsilon, zinc finger domain
DNA polymerase epsilon ,catalytic subunit A, thumb domain
Domain of unknown function (DUF1744)
DNA polymerase epsilon catalytic subunit A, thumb domain
Zinc finger domain of DNA polymerase-epsilon
Zinc finger domain of DNA polymerase-epsilon

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of POLE in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads POLE as an antibody target. Whether an autoantibody or antibody against POLE could matter depends on whether native POLE is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

POLE is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label POLE as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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