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... See more...

Aliases for POLI Gene

Aliases for POLI Gene

  • DNA Polymerase Iota 2 3 4 5
  • Polymerase (DNA Directed) Iota 2 3
  • Polymerase (DNA) Iota 2 3
  • RAD30 Homolog B 3 4
  • RAD30B 3 4
  • Eta2 3 4
  • Polymerase (DNA-Directed), Iota 3
  • EC 2.7.7.7 4
  • RAD3OB 3
  • POLI 5

External Ids for POLI Gene

Previous HGNC Symbols for POLI Gene

  • RAD3OB
  • RAD30B

Previous GeneCards Identifiers for POLI Gene

  • GC18P051966
  • GC18P051731
  • GC18P050047
  • GC18P050049
  • GC18P048651
  • GC18P051795

Summaries for POLI Gene

Entrez Gene Summary for POLI Gene

  • 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]

GeneCards Summary for POLI Gene

POLI (DNA Polymerase Iota) is a Protein Coding gene. Diseases associated with POLI include Xeroderma Pigmentosum, Variant Type and Treacher Collins Syndrome 1. Among its related pathways are DNA Double-Strand Break Repair and Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template. Gene Ontology (GO) annotations related to this gene include damaged DNA binding and DNA-directed DNA polymerase activity. An important paralog of this gene is POLH.

UniProtKB/Swiss-Prot Summary for POLI Gene

  • Error-prone DNA polymerase specifically involved in DNA repair (PubMed:11013228, PubMed:11387224). Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls (PubMed:11013228, PubMed:11387224, PubMed:14630940, PubMed:15199127). Favors Hoogsteen base-pairing in the active site (PubMed:15254543). Inserts the correct base with high-fidelity opposite an adenosine template (PubMed:15254543). Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert guanosine (PubMed:11013228). May play a role in hypermutation of immunogobulin genes (PubMed:12410315). Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but may not have lyase activity (PubMed:11251121, PubMed:14630940).

Gene Wiki entry for POLI Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLI Gene

Genomics for POLI Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLI Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLI on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLI

Top Transcription factor binding sites by QIAGEN in the POLI gene promoter:
  • Brachyury
  • CUTL1
  • E47
  • Hand1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • Pax-4a
  • RFX1
  • TBP

Genomic Locations for POLI Gene

Latest Assembly
chr18:54,269,479-54,321,266
(GRCh38/hg38)
Size:
51,788 bases
Orientation:
Plus strand

Previous Assembly
chr18:51,795,849-51,847,636
(GRCh37/hg19 by Entrez Gene)
Size:
51,788 bases
Orientation:
Plus strand

chr18:51,795,774-51,847,636
(GRCh37/hg19 by Ensembl)
Size:
51,863 bases
Orientation:
Plus strand

Genomic View for POLI Gene

Genes around POLI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLI Gene

Proteins for POLI Gene

  • Protein details for POLI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNA4-POLI_HUMAN
    Recommended name:
    DNA polymerase iota
    Protein Accession:
    Q9UNA4
    Secondary Accessions:
    • Q8N590
    • Q9H0S1
    • Q9NYH6

    Protein attributes for POLI Gene

    Size:
    740 amino acids
    Molecular mass:
    83006 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with POLH (PubMed:12606586). Interacts with REV1 (By similarity). Interacts with ubiquitin (By similarity).
    SequenceCaution:
    • Sequence=AAD50381.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAF63383.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH32662.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAM11872.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAB66605.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POLI Gene

neXtProt entry for POLI Gene

Post-translational modifications for POLI Gene

  • Monoubiquitinated. Protein monoubiquitination prevents POLI binding to ubiquitin via the ubiquitin-binding motif 1 and ubiquitin-binding motif 2.
  • Ubiquitination at Lys292, Lys296, Lys308, Lys345, Lys547, and Lys575
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for POLI Gene

Domains & Families for POLI Gene

Gene Families for POLI Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for POLI Gene

Suggested Antigen Peptide Sequences for POLI Gene

GenScript: Design optimal peptide antigens:
  • RAD30 homolog B (POLI_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UNA4

UniProtKB/Swiss-Prot:

POLI_HUMAN :
  • 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.
  • Belongs to the DNA polymerase type-Y family.
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.
  • Ubiquitin-binding motif 1 and ubiquitin-binding motif 2 regulate POLI protein monoubiquitination and localization to nuclear foci after UV-induced DNA damage.
Family:
  • Belongs to the DNA polymerase type-Y family.
genes like me logo Genes that share domains with POLI: view

Function for POLI Gene

Molecular function for POLI Gene

UniProtKB/Swiss-Prot Function:
Error-prone DNA polymerase specifically involved in DNA repair (PubMed:11013228, PubMed:11387224). Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls (PubMed:11013228, PubMed:11387224, PubMed:14630940, PubMed:15199127). Favors Hoogsteen base-pairing in the active site (PubMed:15254543). Inserts the correct base with high-fidelity opposite an adenosine template (PubMed:15254543). Exhibits low fidelity and efficiency opposite a thymidine template, where it will preferentially insert guanosine (PubMed:11013228). May play a role in hypermutation of immunogobulin genes (PubMed:12410315). Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but may not have lyase activity (PubMed:11251121, PubMed:14630940).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:11130, Rhea:RHEA-COMP:11131, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:83828; EC=2.7.7.7; Evidence={ECO:0000269|PubMed:11013228, ECO:0000269|PubMed:11387224, ECO:0000269|PubMed:27555320};.

Enzyme Numbers (IUBMB) for POLI Gene

Phenotypes From GWAS Catalog for POLI Gene

Gene Ontology (GO) - Molecular Function for POLI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003684 damaged DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity TAS --
GO:0005515 protein binding IPI 16189514
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with POLI: view
genes like me logo Genes that share phenotypes with POLI: view

Animal Models for POLI Gene

MGI Knock Outs for POLI:
  • Poli Poli<tm1.1Lgh>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLI

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POLI Gene

Localization for POLI Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLI Gene

Nucleus. Note=Binding to ubiquitin mediates localization to replication forks after UV-induced DNA damage. {ECO:0000250 UniProtKB:Q6R3M4}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLI gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Cytoplasmic bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0016607 nuclear speck IDA --
GO:0036464 cytoplasmic ribonucleoprotein granule IDA --
genes like me logo Genes that share ontologies with POLI: view

Pathways & Interactions for POLI Gene

genes like me logo Genes that share pathways with POLI: view

Gene Ontology (GO) - Biological Process for POLI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IEA --
GO:0006281 DNA repair IEA,TAS 10458907
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0019985 translesion synthesis IBA,TAS --
GO:0042276 error-prone translesion synthesis TAS --
genes like me logo Genes that share ontologies with POLI: view

No data available for SIGNOR curated interactions for POLI Gene

Drugs & Compounds for POLI Gene

(10) Drugs for POLI Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
dgtp Experimental Pharma 0
dATP Experimental Pharma 0
dctp Experimental Pharma 0
Phosphate Experimental Pharma 0

(3) Additional Compounds for POLI Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with POLI: view

Transcripts for POLI Gene

mRNA/cDNA for POLI Gene

14 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLI

Alternative Splicing Database (ASD) splice patterns (SP) for POLI Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - -
SP4: - -
SP5: - - - - - -
SP6: -
SP7: - -
SP8: - - - -
SP9:
SP10: - - - -
SP11: - -
SP12:

ExUns: 14b · 14c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for POLI Gene

GeneLoc Exon Structure for
POLI

Expression for POLI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POLI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLI Gene

This gene is overexpressed in Testis (41.1), Pancreas (10.3), and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for POLI Gene



Protein tissue co-expression partners for POLI Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLI

SOURCE GeneReport for Unigene cluster for POLI Gene:

Hs.438533

mRNA Expression by UniProt/SwissProt for POLI Gene:

Q9UNA4-POLI_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in testis.

Evidence on tissue expression from TISSUES for POLI Gene

  • Nervous system(4.5)
  • Heart(4.4)
  • Skin(2.8)
  • Kidney(2.6)
  • Muscle(2.3)
  • Lung(2.2)
  • Intestine(2.2)
  • Thyroid gland(2.2)
  • Blood(2)
genes like me logo Genes that share expression patterns with POLI: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLI Gene

Orthologs for POLI Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLI Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia POLI 29 30
  • 99.03 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POLI 29 30
  • 90.23 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POLI 29 30
  • 88.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Poli 29
  • 81.44 (n)
Mouse
(Mus musculus)
Mammalia Poli 29 16 30
  • 79.9 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POLI 30
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia POLI 30
  • 68 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia POLI 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia poli 29
  • 58.59 (n)
Str.14738 29
Zebrafish
(Danio rerio)
Actinopterygii poli 29 30
  • 57 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta DNApol-&igr; 31
  • 38 (a)
DNApol-iota 30
  • 31 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV1 30
  • 9 (a)
OneToMany
Species where no ortholog for POLI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for POLI Gene

ENSEMBL:
Gene Tree for POLI (if available)
TreeFam:
Gene Tree for POLI (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLI: view image
Alliance of Genome Resources:
Additional Orthologs for POLI

Paralogs for POLI Gene

Paralogs for POLI Gene

(1) SIMAP similar genes for POLI Gene using alignment to 9 proteins:

  • POLI_HUMAN
  • J3KQ09_HUMAN
  • J3KRG0_HUMAN
  • J3KRS8_HUMAN
  • J3KSW2_HUMAN
  • J3KTM8_HUMAN
  • J3KTN3_HUMAN
  • J3QQZ8_HUMAN
  • J3QR36_HUMAN
genes like me logo Genes that share paralogs with POLI: view

Variants for POLI Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLI Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs3218778 -- p.Arg96Gly
rs3218783 -- p.Glu276Lys
rs3218784 -- p.Ile261Met
rs3218786 -- p.Phe532Ser
rs3218787 -- p.Cys560Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POLI Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for POLI Gene

Variant ID Type Subtype PubMed ID
esv3583078 CNV loss 25503493
nsv433313 CNV loss 18776910
nsv828244 CNV loss 20364138

Variation tolerance for POLI Gene

Residual Variation Intolerance Score: 96.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLI Gene

Human Gene Mutation Database (HGMD)
POLI
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLI
Leiden Open Variation Database (LOVD)
POLI

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLI Gene

Disorders for POLI Gene

MalaCards: The human disease database

(19) MalaCards diseases for POLI Gene - From: COP and GCD

Disorder Aliases PubMed IDs
xeroderma pigmentosum, variant type
  • xpv
treacher collins syndrome 1
  • tcs1
epithelial-stromal tgfbi dystrophy
lattice corneal dystrophy
  • familial amyloid neuropathy, finnish type
multiple personality disorder
  • dissociative identity disorder
- elite association - COSMIC cancer census association via MalaCards
Search POLI in MalaCards View complete list of genes associated with diseases

Additional Disease Information for POLI

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with POLI: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLI Gene

Publications for POLI Gene

  1. Increased catalytic activity and altered fidelity of human DNA polymerase iota in the presence of manganese. (PMID: 17609217) Frank EG … Woodgate R (The Journal of biological chemistry 2007) 2 3 22
  2. Efficient and error-free replication past a minor-groove DNA adduct by the sequential action of human DNA polymerases iota and kappa. (PMID: 15199127) Washington MT … Prakash L (Molecular and cellular biology 2004) 3 4 22
  3. Replication by human DNA polymerase-iota occurs by Hoogsteen base-pairing. (PMID: 15254543) Nair DT … Aggarwal AK (Nature 2004) 3 4 22
  4. Localization of DNA polymerases eta and iota to the replication machinery is tightly co-ordinated in human cells. (PMID: 12606586) Kannouche P … Lehmann AR (The EMBO journal 2003) 3 4 22
  5. Induction of somatic hypermutation in immunoglobulin genes is dependent on DNA polymerase iota. (PMID: 12410315) Faili A … Weill JC (Nature 2002) 3 4 22

Products for POLI Gene

Sources for POLI Gene