Human Gene POLI (uc002lfj.4) Description and Page Index
Description: Homo sapiens polymerase (DNA directed) iota (POLI), mRNA. RefSeq Summary (NM_007195): The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot do. The encoded polymerase inserts deoxynucleotides across lesions and then relies on DNA polymerase zeta to extend the nascent DNA strand to bypass the lesion. [provided by RefSeq, May 2017]. Transcript (Including UTRs) Position: hg19 chr18:51,795,849-51,824,604 Size: 28,756 Total Exon Count: 10 Strand: + Coding Region Position: hg19 chr18:51,795,917-51,820,837 Size: 24,921 Coding Exon Count: 10
ID:POLI_HUMAN DESCRIPTION: RecName: Full=DNA polymerase iota; EC=184.108.40.206; AltName: Full=Eta2; AltName: Full=RAD30 homolog B; FUNCTION: Error-prone DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Favors Hoogsteen base-pairing in the active site. Inserts the correct base with high-fidelity opposite an adenosine template. Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert guanosine. May play a role in hypermutation of immunogobulin genes. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but may not have lyase activity. CATALYTIC ACTIVITY: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). COFACTOR: Magnesium. SUBUNIT: Interacts with REV1 (By similarity). Interacts with POLH. INTERACTION: Q15038:DAZAP2; NbExp=3; IntAct=EBI-741774, EBI-724310; SUBCELLULAR LOCATION: Nucleus. Note=Accumulates at replication forks after DNA damage. TISSUE SPECIFICITY: Ubiquitous. Highly expressed in testis. DOMAIN: The catalytic core consists of fingers, palm and thumb subdomains, but the fingers and thumb subdomains are much smaller than in high-fidelity polymerases; residues from five sequence motifs of the Y-family cluster around an active site cleft that can accommodate DNA and nucleotide substrates with relaxed geometric constraints, with consequently higher rates of misincorporation and low processivity. SIMILARITY: Belongs to the DNA polymerase type-Y family. SIMILARITY: Contains 1 umuC domain. SEQUENCE CAUTION: Sequence=AAD50381.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAF63383.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH32662.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAM11872.1; Type=Erroneous gene model prediction; Sequence=CAB66605.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/poli/";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): POLI CDC HuGE Published Literature: POLI Positive Disease Associations: Asthma
, Neoplasms Related Studies:
Asthma C Ober et al. American journal of human genetics 2000, A second-generation genomewide screen for asthma-susceptibility alleles in a founder population., American journal of human genetics.
Neoplasms Paolo Vineis , et al. Journal of the National Cancer Institute 2009 101(1):24-36, A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility., Journal of the National Cancer Institute 2009 101(1):24-36.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UNA4
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.