Description: Homo sapiens polymerase (DNA directed), epsilon, catalytic subunit (POLE), mRNA. RefSeq Summary (NM_006231): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr12:133,200,348-133,263,945 Size: 63,598 Total Exon Count: 49 Strand: -
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
AK093003 - Homo sapiens cDNA FLJ35684 fis, clone SPLEN2019169, highly similar to DNA polymerase epsilon, catalytic subunit A (EC 2.7.7.7). AF128544 - Homo sapiens DNA polymerase epsilon catalytic subunit (POLE1) gene, 3' UTR. AK128248 - Homo sapiens cDNA FLJ46383 fis, clone THYMU2020560, moderately similar to DNA polymerase epsilon, catalytic subunit A (EC 2.7.7.7). AL080203 - Homo sapiens mRNA; cDNA DKFZp434F222 (from clone DKFZp434F222). BC011376 - Homo sapiens polymerase (DNA directed), epsilon, mRNA (cDNA clone IMAGE:3871436), containing frame-shift errors. AK025087 - Homo sapiens cDNA: FLJ21434 fis, clone COL04242. BC007599 - Homo sapiens, clone IMAGE:3347229, mRNA, partial cds. BC087613 - Homo sapiens polymerase (DNA directed), epsilon, mRNA (cDNA clone IMAGE:4591469), partial cds. BX647647 - Homo sapiens mRNA; cDNA DKFZp451G207 (from clone DKFZp451G207). BC021559 - Homo sapiens polymerase (DNA directed), epsilon, mRNA (cDNA clone IMAGE:5014786), complete cds. BC144561 - Homo sapiens cDNA clone IMAGE:9053089. S60080 - DNA polymerase epsilon catalytic subunit [human, HeLa cells, mRNA, 6794 nt]. L09561 - Homo sapiens DNA polymerase epsilon, catalytic polypeptide mRNA, complete cds. KJ901648 - Synthetic construct Homo sapiens clone ccsbBroadEn_11042 POLE gene, encodes complete protein. U49356 - Human DNA polymerase epsilon catalytic subunit mRNA, complete cds. BC172436 - Synthetic construct Homo sapiens clone IMAGE:100069130, MGC:199141 polymerase (DNA directed), epsilon (POLE) mRNA, encodes complete protein. CU676920 - Synthetic construct Homo sapiens gateway clone IMAGE:100021963 5' read POLE mRNA. LF206918 - JP 2014500723-A/14421: Polycomb-Associated Non-Coding RNAs. LF359317 - JP 2014500723-A/166820: Polycomb-Associated Non-Coding RNAs. AB209902 - Homo sapiens mRNA for DNA polymerase epsilon catalytic subunit variant protein. AF128542 - Homo sapiens DNA polymerase epsilon catalytic subunit isoform b (POLE1) mRNA, partial cds. JD251670 - Sequence 232694 from Patent EP1572962. MA442495 - JP 2018138019-A/14421: Polycomb-Associated Non-Coding RNAs. MA594894 - JP 2018138019-A/166820: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00230 - Purine metabolism hsa00240 - Pyrimidine metabolism hsa01100 - Metabolic pathways hsa03030 - DNA replication hsa03410 - Base excision repair hsa03420 - Nucleotide excision repair