SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q07864

- DPOE1_HUMAN

UniProt

Q07864 - DPOE1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
DNA polymerase epsilon catalytic subunit A
Gene
POLE, POLE1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Participates in DNA repair and in chromosomal DNA replication.

Catalytic activityi

Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).

Cofactori

Binds 1 4Fe-4S cluster By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi2158 – 21581Zinc By similarity
Metal bindingi2161 – 21611Zinc By similarity
Metal bindingi2187 – 21871Zinc By similarity
Metal bindingi2190 – 21901Zinc By similarity
Metal bindingi2221 – 22211Iron-sulfur (4Fe-4S) By similarity
Metal bindingi2224 – 22241Iron-sulfur (4Fe-4S) By similarity
Metal bindingi2236 – 22361Iron-sulfur (4Fe-4S) By similarity
Metal bindingi2238 – 22381Iron-sulfur (4Fe-4S) By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri2158 – 219033CysA-type
Add
BLAST

GO - Molecular functioni

  1. 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
  2. DNA binding Source: UniProtKB
  3. DNA-directed DNA polymerase activity Source: UniProtKB
  4. chromatin binding Source: UniProtKB
  5. nucleotide binding Source: InterPro
  6. zinc ion binding Source: InterPro

GO - Biological processi

  1. DNA repair Source: Reactome
  2. DNA replication Source: UniProtKB
  3. DNA replication initiation Source: Reactome
  4. DNA synthesis involved in DNA repair Source: UniProtKB
  5. G1/S transition of mitotic cell cycle Source: UniProtKB
  6. base-excision repair, gap-filling Source: UniProtKB
  7. in utero embryonic development Source: Ensembl
  8. mitotic cell cycle Source: Reactome
  9. nucleotide-excision repair Source: Reactome
  10. nucleotide-excision repair, DNA gap filling Source: UniProtKB
  11. telomere maintenance Source: Reactome
  12. telomere maintenance via recombination Source: Reactome
  13. telomere maintenance via semi-conservative replication Source: Reactome
  14. transcription-coupled nucleotide-excision repair Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

DNA-directed DNA polymerase, Nucleotidyltransferase, Transferase

Keywords - Biological processi

DNA damage, DNA repair, DNA replication

Keywords - Ligandi

4Fe-4S, DNA-binding, Iron, Iron-sulfur, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_1095. Activation of the pre-replicative complex.
REACT_1993. Repair synthesis for gap-filling by DNA polymerase in TC-NER.
REACT_2244. DNA replication initiation.
REACT_378. Repair synthesis of patch ~27-30 bases long by DNA polymerase.
REACT_7993. Telomere C-strand synthesis initiation.

Names & Taxonomyi

Protein namesi
Recommended name:
DNA polymerase epsilon catalytic subunit A (EC:2.7.7.7)
Alternative name(s):
DNA polymerase II subunit A
Gene namesi
Name:POLE
Synonyms:POLE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:9177. POLE.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. epsilon DNA polymerase complex Source: UniProtKB
  3. nucleoplasm Source: Reactome
  4. nucleus Source: UniProtKB
  5. plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Colorectal cancer 12 (CRCS12) [MIM:615083]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti424 – 4241L → V in CRCS12; associated with disease susceptibility. 1 Publication
VAR_069344
Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) [MIM:615139]: A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615083. phenotype.
615139. phenotype.
Orphaneti352712. Facial dysmorphism - immunodeficiency - livedo - short stature.
PharmGKBiPA277.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 22862286DNA polymerase epsilon catalytic subunit A
PRO_0000046455Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1184 – 11841Phosphoserine1 Publication
Modified residuei1940 – 19401Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ07864.
PaxDbiQ07864.
PRIDEiQ07864.

PTM databases

PhosphoSiteiQ07864.

Expressioni

Gene expression databases

ArrayExpressiQ07864.
BgeeiQ07864.
CleanExiHS_POLE.
GenevestigatoriQ07864.

Organism-specific databases

HPAiHPA058210.

Interactioni

Subunit structurei

Catalytic and central component of the epsilon DNA polymerase complex consisting of four subunits: POLE, POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1.3 Publications

Protein-protein interaction databases

BioGridi111422. 17 interactions.
DIPiDIP-24243N.
IntActiQ07864. 8 interactions.
MINTiMINT-145475.
STRINGi9606.ENSP00000322570.

Structurei

3D structure databases

ProteinModelPortaliQ07864.
SMRiQ07864. Positions 218-552, 776-1119.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi2221 – 223818CysB motif
Add
BLAST

Domaini

The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for complexing subunits B and C. The C-terminus may also regulate the catalytic activities of the enzyme.
The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes By similarity.

Sequence similaritiesi

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiCOG0417.
HOVERGENiHBG051398.
InParanoidiQ07864.
KOiK02324.
OMAiYETHSDN.
PhylomeDBiQ07864.
TreeFamiTF105017.

Family and domain databases

Gene3Di3.30.420.10. 1 hit.
InterProiIPR006172. DNA-dir_DNA_pol_B.
IPR006133. DNA-dir_DNA_pol_B_exonuc.
IPR006134. DNA-dir_DNA_pol_B_multi_dom.
IPR013697. DNA_pol_e_suA_C.
IPR012337. RNaseH-like_dom.
[Graphical view]
PfamiPF00136. DNA_pol_B. 1 hit.
PF03104. DNA_pol_B_exo1. 1 hit.
PF08490. DUF1744. 1 hit.
[Graphical view]
SMARTiSM00486. POLBc. 1 hit.
[Graphical view]
SUPFAMiSSF53098. SSF53098. 2 hits.

Sequencei

Sequence statusi: Complete.

Q07864-1 [UniParc]FASTAAdd to Basket

« Hide

MSLRSGGRRR ADPGADGEAS RDDGATSSVS ALKRLERSQW TDKMDLRFGF     50
ERLKEPGEKT GWLINMHPTE ILDEDKRLGS AVDYYFIQDD GSRFKVALPY 100
KPYFYIATRK GCEREVSSFL SKKFQGKIAK VETVPKEDLD LPNHLVGLKR 150
NYIRLSFHTV EDLVKVRKEI SPAVKKNREQ DHASDAYTAL LSSVLQRGGV 200
ITDEEETSKK IADQLDNIVD MREYDVPYHI RLSIDLKIHV AHWYNVRYRG 250
NAFPVEITRR DDLVERPDPV VLAFDIETTK LPLKFPDAET DQIMMISYMI 300
DGQGYLITNR EIVSEDIEDF EFTPKPEYEG PFCVFNEPDE AHLIQRWFEH 350
VQETKPTIMV TYNGDFFDWP FVEARAAVHG LSMQQEIGFQ KDSQGEYKAP 400
QCIHMDCLRW VKRDSYLPVG SHNLKAAAKA KLGYDPVELD PEDMCRMATE 450
QPQTLATYSV SDAVATYYLY MKYVHPFIFA LCTIIPMEPD EVLRKGSGTL 500
CEALLMVQAF HANIIFPNKQ EQEFNKLTDD GHVLDSETYV GGHVEALESG 550
VFRSDIPCRF RMNPAAFDFL LQRVEKTLRH ALEEEEKVPV EQVTNFEEVC 600
DEIKSKLASL KDVPSRIECP LIYHLDVGAM YPNIILTNRL QPSAMVDEAT 650
CAACDFNKPG ANCQRKMAWQ WRGEFMPASR SEYHRIQHQL ESEKFPPLFP 700
EGPARAFHEL SREEQAKYEK RRLADYCRKA YKKIHITKVE ERLTTICQRE 750
NSFYVDTVRA FRDRRYEFKG LHKVWKKKLS AAVEVGDAAE VKRCKNMEVL 800
YDSLQLAHKC ILNSFYGYVM RKGARWYSME MAGIVCFTGA NIITQARELI 850
EQIGRPLELD TDGIWCVLPN SFPENFVFKT TNVKKPKVTI SYPGAMLNIM 900
VKEGFTNDQY QELAEPSSLT YVTRSENSIF FEVDGPYLAM ILPASKEEGK 950
KLKKRYAVFN EDGSLAELKG FEVKRRGELQ LIKIFQSSVF EAFLKGSTLE 1000
EVYGSVAKVA DYWLDVLYSK AANMPDSELF ELISENRSMS RKLEDYGEQK 1050
STSISTAKRL AEFLGDQMVK DAGLSCRYII SRKPEGSPVT ERAIPLAIFQ 1100
AEPTVRKHFL RKWLKSSSLQ DFDIRAILDW DYYIERLGSA IQKIITIPAA 1150
LQQVKNPVPR VKHPDWLHKK LLEKNDVYKQ KKISELFTLE GRRQVTMAEA 1200
SEDSPRPSAP DMEDFGLVKL PHPAAPVTVK RKRVLWESQE ESQDLTPTVP 1250
WQEILGQPPA LGTSQEEWLV WLRFHKKKWQ LQARQRLARR KRQRLESAEG 1300
VLRPGAIRDG PATGLGSFLR RTARSILDLP WQIVQISETS QAGLFRLWAL 1350
VGSDLHCIRL SIPRVFYVNQ RVAKAEEGAS YRKVNRVLPR SNMVYNLYEY 1400
SVPEDMYQEH INEINAELSA PDIEGVYETQ VPLLFRALVH LGCVCVVNKQ 1450
LVRHLSGWEA ETFALEHLEM RSLAQFSYLE PGSIRHIYLY HHAQAHKALF 1500
GIFIPSQRRA SVFVLDTVRS NQMPSLGALY SAEHGLLLEK VGPELLPPPK 1550
HTFEVRAETD LKTICRAIQR FLLAYKEERR GPTLIAVQSS WELKRLASEI 1600
PVLEEFPLVP ICVADKINYG VLDWQRHGAR RMIRHYLNLD TCLSQAFEMS 1650
RYFHIPIGNL PEDISTFGSD LFFARHLQRH NHLLWLSPTA RPDLGGKEAD 1700
DNCLVMEFDD QATVEINSSG CYSTVCVELD LQNLAVNTIL QSHHVNDMEG 1750
ADSMGISFDV IQQASLEDMI TGGQAASAPA SYDETALCSN TFRILKSMVV 1800
GWVKEITQYH NIYADNQVMH FYRWLRSPSS LLHDPALHRT LHNMMKKLFL 1850
QLIAEFKRLG SSVIYANFNR IILCTKKRRV EDAIAYVEYI TSSIHSKETF 1900
HSLTISFSRC WEFLLWMDPS NYGGIKGKVS SRIHCGLQDS QKAGGAEDEQ 1950
ENEDDEEERD GEEEEEAEES NVEDLLENNW NILQFLPQAA SCQNYFLMIV 2000
SAYIVAVYHC MKDGLRRSAP GSTPVRRRGA SQLSQEAEGA VGALPGMITF 2050
SQDYVANELT QSFFTITQKI QKKVTGSRNS TELSEMFPVL PGSHLLLNNP 2100
ALEFIKYVCK VLSLDTNITN QVNKLNRDLL RLVDVGEFSE EAQFRDPCRS 2150
YVLPEVICRS CNFCRDLDLC KDSSFSEDGA VLPQWLCSNC QAPYDSSAIE 2200
MTLVEVLQKK LMAFTLQDLV CLKCRGVKET SMPVYCSCAG DFALTIHTQV 2250
FMEQIGIFRN IAQHYGMSYL LETLEWLLQK NPQLGH 2286
Length:2,286
Mass (Da):261,518
Last modified:October 17, 2006 - v5
Checksum:iA213AE1EA8437DEC
GO

Sequence cautioni

The sequence AAA15448.1 differs from that shown. Reason:
The sequence AAA15448.1 differs from that shown. Reason: Frameshift at positions 443 and 448.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311A → S.
Corresponds to variant rs34047482 [ dbSNP | Ensembl ].
VAR_061138
Natural varianti99 – 991P → L.
Corresponds to variant rs5744739 [ dbSNP | Ensembl ].
VAR_028429
Natural varianti189 – 1891A → T Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069339
Natural varianti231 – 2311R → H Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069340
Natural varianti252 – 2521A → V.
Corresponds to variant rs5744751 [ dbSNP | Ensembl ].
VAR_020276
Natural varianti260 – 2601R → Q.
Corresponds to variant rs5744752 [ dbSNP | Ensembl ].
VAR_028430
Natural varianti286 – 2861P → H Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069341
Natural varianti336 – 3361N → S.
Corresponds to variant rs5744760 [ dbSNP | Ensembl ].
VAR_020277
Natural varianti367 – 3671F → S Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069342
Natural varianti411 – 4111V → L Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069343
Natural varianti424 – 4241L → V in CRCS12; associated with disease susceptibility. 1 Publication
VAR_069344
Natural varianti436 – 4361P → R Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069345
Natural varianti459 – 4591S → F Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069346
Natural varianti695 – 6951F → I.
Corresponds to variant rs5744799 [ dbSNP | Ensembl ].
VAR_020278
Natural varianti762 – 7621R → W Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069347
Natural varianti777 – 7771K → N Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069348
Natural varianti1008 – 10081K → N Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069349
Natural varianti1255 – 12551L → V Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069350
Natural varianti1368 – 13681V → M Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069351
Natural varianti1382 – 13821R → C.
Corresponds to variant rs5744904 [ dbSNP | Ensembl ].
VAR_028431
Natural varianti1395 – 13951Y → C.
Corresponds to variant rs5744933 [ dbSNP | Ensembl ].
VAR_020279
Natural varianti1396 – 13961N → S.
Corresponds to variant rs5744934 [ dbSNP | Ensembl ].
VAR_020280
Natural varianti1399 – 13991E → Q.
Corresponds to variant rs5744935 [ dbSNP | Ensembl ].
VAR_020281
Natural varianti1421 – 14211P → S.1 Publication
VAR_069352
Natural varianti1577 – 15771E → A.
Corresponds to variant rs5744948 [ dbSNP | Ensembl ].
VAR_028432
Natural varianti1712 – 17121A → V.
Corresponds to variant rs5744950 [ dbSNP | Ensembl ].
VAR_028433
Natural varianti1752 – 17521D → N Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069353
Natural varianti1857 – 18571K → R.
Corresponds to variant rs5744971 [ dbSNP | Ensembl ].
VAR_028434
Natural varianti1935 – 19351C → Y.
Corresponds to variant rs5744991 [ dbSNP | Ensembl ].
VAR_028435
Natural varianti2013 – 20131D → N.1 Publication
VAR_069354
Natural varianti2040 – 20401A → V.
Corresponds to variant rs5745021 [ dbSNP | Ensembl ].
VAR_020282
Natural varianti2056 – 20561A → T Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069355
Natural varianti2140 – 21401E → K.
Corresponds to variant rs5745066 [ dbSNP | Ensembl ].
VAR_048881
Natural varianti2159 – 21591R → C.
Corresponds to variant rs5745067 [ dbSNP | Ensembl ].
VAR_048882
Natural varianti2165 – 21651R → H.
Corresponds to variant rs5745068 [ dbSNP | Ensembl ].
VAR_020283
Natural varianti2213 – 22131A → V Found in a colorectal sample; somatic mutation. 1 Publication
VAR_069356

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2237 – 22371S → T in AAA15448. 1 Publication
Sequence conflicti2237 – 22371S → T in AAC19148. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S60080 mRNA. Translation: AAA15448.1. Sequence problems.
L09561 mRNA. Translation: AAC19148.1.
U49356 mRNA. Translation: AAA90924.1.
AY273166 Genomic DNA. Translation: AAP12650.1.
CCDSiCCDS9278.1.
PIRiG02434.
RefSeqiNP_006222.2. NM_006231.3.
UniGeneiHs.524871.

Genome annotation databases

EnsembliENST00000320574; ENSP00000322570; ENSG00000177084.
GeneIDi5426.
KEGGihsa:5426.
UCSCiuc001uks.1. human.

Polymorphism databases

DMDMi116241339.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
S60080 mRNA. Translation: AAA15448.1 . Sequence problems.
L09561 mRNA. Translation: AAC19148.1 .
U49356 mRNA. Translation: AAA90924.1 .
AY273166 Genomic DNA. Translation: AAP12650.1 .
CCDSi CCDS9278.1.
PIRi G02434.
RefSeqi NP_006222.2. NM_006231.3.
UniGenei Hs.524871.

3D structure databases

ProteinModelPortali Q07864.
SMRi Q07864. Positions 218-552, 776-1119.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111422. 17 interactions.
DIPi DIP-24243N.
IntActi Q07864. 8 interactions.
MINTi MINT-145475.
STRINGi 9606.ENSP00000322570.

Chemistry

ChEMBLi CHEMBL2363042.

PTM databases

PhosphoSitei Q07864.

Polymorphism databases

DMDMi 116241339.

Proteomic databases

MaxQBi Q07864.
PaxDbi Q07864.
PRIDEi Q07864.

Protocols and materials databases

DNASUi 5426.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000320574 ; ENSP00000322570 ; ENSG00000177084 .
GeneIDi 5426.
KEGGi hsa:5426.
UCSCi uc001uks.1. human.

Organism-specific databases

CTDi 5426.
GeneCardsi GC12M133200.
H-InvDB HIX0022184.
HGNCi HGNC:9177. POLE.
HPAi HPA058210.
MIMi 174762. gene.
615083. phenotype.
615139. phenotype.
neXtProti NX_Q07864.
Orphaneti 352712. Facial dysmorphism - immunodeficiency - livedo - short stature.
PharmGKBi PA277.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0417.
HOVERGENi HBG051398.
InParanoidi Q07864.
KOi K02324.
OMAi YETHSDN.
PhylomeDBi Q07864.
TreeFami TF105017.

Enzyme and pathway databases

Reactomei REACT_1095. Activation of the pre-replicative complex.
REACT_1993. Repair synthesis for gap-filling by DNA polymerase in TC-NER.
REACT_2244. DNA replication initiation.
REACT_378. Repair synthesis of patch ~27-30 bases long by DNA polymerase.
REACT_7993. Telomere C-strand synthesis initiation.

Miscellaneous databases

ChiTaRSi POLE. human.
GeneWikii POLE_(enzyme).
GenomeRNAii 5426.
NextBioi 20993.
PROi Q07864.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q07864.
Bgeei Q07864.
CleanExi HS_POLE.
Genevestigatori Q07864.

Family and domain databases

Gene3Di 3.30.420.10. 1 hit.
InterProi IPR006172. DNA-dir_DNA_pol_B.
IPR006133. DNA-dir_DNA_pol_B_exonuc.
IPR006134. DNA-dir_DNA_pol_B_multi_dom.
IPR013697. DNA_pol_e_suA_C.
IPR012337. RNaseH-like_dom.
[Graphical view ]
Pfami PF00136. DNA_pol_B. 1 hit.
PF03104. DNA_pol_B_exo1. 1 hit.
PF08490. DUF1744. 1 hit.
[Graphical view ]
SMARTi SM00486. POLBc. 1 hit.
[Graphical view ]
SUPFAMi SSF53098. SSF53098. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of the cDNA for the catalytic subunit of human DNA polymerase epsilon."
    Kesti T., Frantti H., Syvaeoja J.E.
    J. Biol. Chem. 268:10238-10245(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 48-51; 876-886 AND 1338-1344.
    Tissue: T-cell.
  2. Syvaeoja J.E.
    Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. Asahara H., Goldsmith J.S., Lee E., Linn S.
    Submitted (FEB-1996) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  4. NIEHS SNPs program
    Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 22-2286.
  5. "Identification and cloning of two histone fold motif-containing subunits of HeLa DNA polymerase epsilon."
    Li Y., Pursell Z.F., Linn S.
    J. Biol. Chem. 275:23247-23252(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN EPSILON DNA POLYMERASE COMPLEX.
    Tissue: Cervix carcinoma.
  6. "BRCT domain-containing protein TopBP1 functions in DNA replication and damage response."
    Maekiniemi M., Hillukkala T., Tuusa J., Reini K., Vaara M., Huang D., Pospiech H., Majuri I., Westerling T., Maekelae T.P., Syvaeoja J.E.
    J. Biol. Chem. 276:30399-30406(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TOPBP1.
  7. "The human checkpoint Rad protein Rad17 is chromatin-associated throughout the cell cycle, localizes to DNA replication sites, and interacts with DNA polymerase epsilon."
    Post S.M., Tomkinson A.E., Lee E.Y.-H.P.
    Nucleic Acids Res. 31:5568-5575(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RAD17.
  8. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1940, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1184, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (FILS syndrome)."
    Pachlopnik Schmid J., Lemoine R., Nehme N., Cormier-Daire V., Revy P., Debeurme F., Debre M., Nitschke P., Bole-Feysot C., Legeai-Mallet L., Lim A., de Villartay J.P., Picard C., Durandy A., Fischer A., de Saint Basile G.
    J. Exp. Med. 209:2323-2330(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN FILS.
  12. Cited for: VARIANT CRCS12 VAL-424, VARIANTS THR-189; HIS-231; HIS-286; SER-367; LEU-411; ARG-436; PHE-459; TRP-762; ASN-777; ASN-1008; VAL-1255; MET-1368; SER-1421; ASN-1752; ASN-2013; THR-2056 AND VAL-2213.

Entry informationi

Entry nameiDPOE1_HUMAN
AccessioniPrimary (citable) accession number: Q07864
Secondary accession number(s): Q13533, Q86VH9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: October 17, 2006
Last modified: September 3, 2014
This is version 146 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi