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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:51,795,849-51,824,604)mRNA (may differ from genome)Protein (740 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: POLI_HUMAN
DESCRIPTION: RecName: Full=DNA polymerase iota; EC=2.7.7.7; 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:
  1. 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. [PubMed 11022011]
  2. 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. [PubMed 19116388]

-  MalaCards Disease Associations
  MalaCards Gene Search: POLI
Diseases sorted by gene-association score: malignant anus melanoma (15), tracheitis (15), xeroderma pigmentosum, variant type (11), balanoposthitis (11), ornithosis (6), warsaw breakage syndrome (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.83 RPKM in Thyroid
Total median expression: 226.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.6068-0.435 Picture PostScript Text
3' UTR -924.913767-0.246 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017961 - DNA_pol_Y-fam_little_finger
IPR001126 - DNA_repair_prot_UmuC-like
IPR017963 - DNA_repair_prot_UmuC-like_N

Pfam Domains:
PF00817 - impB/mucB/samB family
PF11799 - impB/mucB/samB family C-terminal domain

SCOP Domains:
100879 - Lesion bypass DNA polymerase (Y-family), little finger domain
56672 - DNA/RNA polymerases

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1T3N
- X-ray

1ZET
- X-ray

2ALZ
- X-ray
To conserve bandwidth, only the images from the first 3 structures are shown.
2DPI - X-ray 2DPJ - X-ray 2FLL - X-ray
2FLN - X-ray 2FLP - X-ray 2KHU - NMR MuPIT
2KHW - NMR MuPIT 2KTF - NMR MuPIT 2L0F - NMR MuPIT
2L0G - NMR MuPIT 3EPG - X-ray MuPIT 3EPI - X-ray MuPIT
3G6V - X-ray MuPIT 3G6X - X-ray MuPIT 3G6Y - X-ray MuPIT
3GV5 - X-ray MuPIT 3GV7 - X-ray MuPIT 3GV8 - X-ray MuPIT
3H40 - X-ray MuPIT 3H4B - X-ray MuPIT 3H4D - X-ray MuPIT
3NGD - X-ray MuPIT 3OSN - X-ray MuPIT 3Q8P - X-ray MuPIT
3Q8Q - X-ray MuPIT 3Q8R - X-ray MuPIT 3Q8S - X-ray MuPIT
4EBC - X-ray MuPIT 4EBD - X-ray MuPIT 4EBE - X-ray MuPIT
4FS1 - X-ray MuPIT 4FS2 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UNA4
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003684 damaged DNA binding
GO:0003887 DNA-directed DNA polymerase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0019985 translesion synthesis
GO:0042276 error-prone translesion synthesis
GO:0071897 DNA biosynthetic process

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016607 nuclear speck
GO:0036464 cytoplasmic ribonucleoprotein granule


-  Descriptions from all associated GenBank mRNAs
  KJ902218 - Synthetic construct Homo sapiens clone ccsbBroadEn_11612 POLI gene, encodes complete protein.
LP896096 - Sequence 960 from Patent EP3253886.
AK301578 - Homo sapiens cDNA FLJ61612 complete cds, highly similar to DNA polymerase iota (EC 2.7.7.7).
AF140501 - Homo sapiens DNA polymerase iota (POLI) mRNA, complete cds.
BC032617 - Homo sapiens, Similar to polymerase (DNA directed) iota, clone IMAGE:5562703, mRNA.
AL136670 - Homo sapiens mRNA; cDNA DKFZp564B1872 (from clone DKFZp564B1872); complete cds.
BC032662 - Homo sapiens polymerase (DNA directed) iota, mRNA (cDNA clone MGC:45176 IMAGE:5529838), complete cds.
AF245438 - Homo sapiens DNA polymerase iota (POLI) mRNA, complete cds.
AK093688 - Homo sapiens cDNA FLJ36369 fis, clone THYMU2008035, highly similar to Homo sapiens DNA polymerase iota (POLI) mRNA.
AB463184 - Synthetic construct DNA, clone: pF1KB8403, Homo sapiens POLI gene for polymerase (DNA directed) iota, without stop codon, in Flexi system.
AM392978 - Synthetic construct Homo sapiens clone IMAGE:100001901 for hypothetical protein (POLI gene).
DQ896811 - Synthetic construct Homo sapiens clone IMAGE:100011271; FLH166859.01L; RZPDo839E0587D polymerase (DNA directed) iota (POLI) gene, encodes complete protein.
DQ890893 - Synthetic construct clone IMAGE:100003523; FLH166863.01X; RZPDo839E0588D polymerase (DNA directed) iota (POLI) gene, encodes complete protein.
CU689468 - Synthetic construct Homo sapiens gateway clone IMAGE:100017780 5' read POLI mRNA.
BC142674 - Homo sapiens polymerase (DNA directed) iota, mRNA (cDNA clone IMAGE:40148199), **** WARNING: chimeric clone ****.
BC142730 - Homo sapiens polymerase (DNA directed) iota, mRNA (cDNA clone IMAGE:40148981), **** WARNING: chimeric clone ****.
AK226057 - Homo sapiens mRNA for polymerase iota variant, clone: ph00591.
BX649100 - Homo sapiens mRNA; cDNA DKFZp779J2043 (from clone DKFZp779J2043).
JD289258 - Sequence 270282 from Patent EP1572962.
JD083920 - Sequence 64944 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UNA4 (Reactome details) participates in the following event(s):

R-HSA-5656105 POLI simultaneously binds REV1 and monoUb:K164-PCNA at damaged DNA
R-HSA-5653770 USP10 deubiquitinates monoUb:K164,ISG:K164,ISG:K168-PCNA
R-HSA-5656148 POLI incorporates dNMP opposite to damaged DNA base
R-HSA-5656158 POLZ elongates POLI-incorporated dNMP
R-HSA-5653756 TRIM25 binds monoUb:164-PCNA
R-HSA-5653766 USP10 binds monoUb:K164,ISG:K164,ISG:K168-PCNA
R-HSA-5653754 UBE2L6:TRIM25 ISGylates monoUb:K164-PCNA
R-HSA-5656121 Translesion synthesis by POLI
R-HSA-5656169 Termination of translesion DNA synthesis
R-HSA-110313 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
R-HSA-73893 DNA Damage Bypass
R-HSA-73894 DNA Repair

-  Other Names for This Gene
  Alternate Gene Symbols: NM_007195, NP_009126, POLI_HUMAN, Q8N590, Q9H0S1, Q9NYH6, Q9UNA4, RAD30B
UCSC ID: uc002lfj.4
RefSeq Accession: NM_007195
Protein: Q9UNA4 (aka POLI_HUMAN)
CCDS: CCDS11954.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_007195.2
exon count: 10CDS single in 3' UTR: no RNA size: 6074
ORF size: 2223CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4334.00frame shift in genome: no % Coverage: 99.74
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.