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Aliases for POLI Gene

Aliases for POLI Gene

  • DNA Polymerase Iota 2 3 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

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 Tracheitis and Xeroderma Pigmentosum, Variant Type. Among its related pathways are Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template and Fanconi anemia pathway. 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 REV1.

UniProtKB/Swiss-Prot for POLI Gene

  • 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.

Gene Wiki entry for POLI Gene

Additional gene information for POLI Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POLI Gene

Genomics for POLI Gene

GeneHancer (GH) Regulatory Elements for POLI Gene

Promoters and enhancers for POLI Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18I054268 Promoter/Enhancer 1.5 Ensembl ENCODE 595.3 +0.4 377 2.8 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 POLI ENSG00000277324 GC18M054269 MBD2
GH18I054259 Enhancer 1.2 FANTOM5 Ensembl ENCODE 44.3 -8.2 -8198 3.5 PKNOX1 FOXA2 ZBTB40 BATF IRF4 EGR1 ATF7 RCOR1 FOS BCLAF1 GC18P054260 POLI MBD2 SNORA37 C18orf54
GH18I054250 Enhancer 1.1 Ensembl ENCODE 44.9 -16.6 -16584 5.5 FOXA2 MLX ARID4B FEZF1 DMAP1 IRF4 ETS1 YY1 ATF7 RUNX3 POLI C18orf54 MBD2 SNORA37 STARD6 GC18P054260
GH18I054257 Enhancer 0.9 Ensembl ENCODE dbSUPER 44.9 -11.5 -11495 1.8 GATA3 HLF CEBPA CEBPB NR2F6 CEBPG POLI MBD2 SNORA37 C18orf54 STARD6 GC18P054260
GH18I054246 Enhancer 1 Ensembl ENCODE dbSUPER 37.5 -22.0 -22045 2.6 SOX5 ZNF687 FOXA2 EBF1 KMT2B ATF2 SP1 BCL11A TARDBP IKZF1 POLI SNORA37 MBD2 C18orf54 STARD6 ENSG00000264296 GC18P054260
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around POLI on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POLI gene promoter:

Genomic Locations for POLI Gene

Genomic Locations for POLI Gene
chr18:54,269,404-54,321,266
(GRCh38/hg38)
Size:
51,863 bases
Orientation:
Plus strand
chr18:51,795,774-51,847,636
(GRCh37/hg19)

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;
    Quaternary structure:
    • Interacts with REV1 (By similarity). Interacts with POLH.
    SequenceCaution:
    • Sequence=AAD50381.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF63383.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH32662.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAM11872.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAB66605.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POLI Gene

neXtProt entry for POLI Gene

Post-translational modifications for POLI Gene

  • Ubiquitination at isoforms=292, isoforms=296, isoforms=308, isoforms=345, isoforms=547, and isoforms=575

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

Suggested Antigen Peptide Sequences for POLI Gene

GenScript: Design optimal peptide antigens:

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.
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 CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot 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.

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:0003684 damaged DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity TAS --
GO:0005515 protein binding IPI 16189514
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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=Accumulates at replication forks after DNA damage.

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 2
mitochondrion 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:0005622 intracellular IDA --
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 TAS,IEA 10458907
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0019985 translesion synthesis 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Magnesium Approved Nutra 0
dgtp Experimental Pharma 0
dATP Experimental Pharma Full agonist, Agonist 0
dctp Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
genes like me logo Genes that share compounds with POLI: view

Transcripts for POLI Gene

Unigene Clusters for POLI Gene

Polymerase (DNA directed) iota:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
POLI

Expression for POLI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for POLI Gene



Protein tissue co-expression partners for POLI Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POLI Gene:

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(4.4)
  • Heart(4.3)
  • Kidney(2.2)
  • Spleen(2.1)
  • Intestine(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with POLI: view

Primer Products

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 33 34
  • 99.03 (n)
dog
(Canis familiaris)
Mammalia POLI 33 34
  • 90.23 (n)
cow
(Bos Taurus)
Mammalia POLI 33 34
  • 88.25 (n)
rat
(Rattus norvegicus)
Mammalia Poli 33
  • 81.44 (n)
mouse
(Mus musculus)
Mammalia Poli 33 16 34
  • 79.9 (n)
oppossum
(Monodelphis domestica)
Mammalia POLI 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLI 34
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POLI 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia poli 33
  • 58.59 (n)
Str.14738 33
zebrafish
(Danio rerio)
Actinopterygii poli 33 34
  • 57 (n)
fruit fly
(Drosophila melanogaster)
Insecta DNApol-igr 35
  • 38 (a)
DNApol-iota 34
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV1 34
  • 9 (a)
OneToMany
Species where no ortholog for POLI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for POLI Gene

Paralogs for POLI Gene

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

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

Variants for POLI Gene

Sequence variations from dbSNP and Humsavar for POLI Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000021545 -- 54,288,259(+) G/C intron_variant
rs1000077967 -- 54,294,524(+) G/A 3_prime_UTR_variant, intron_variant
rs1000272373 -- 54,311,852(+) C/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000275025 -- 54,269,484(+) C/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000306180 -- 54,269,610(+) G/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant

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

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

Disorders for POLI Gene

MalaCards: The human disease database

(7) MalaCards diseases for POLI Gene - From: HGMD, DISEASES, and Novoseek

Disorder Aliases PubMed IDs
tracheitis
  • acute tracheitis
xeroderma pigmentosum, variant type
  • xpv
malignant anus melanoma
  • anal melanoma
balanoposthitis
ornithosis
  • psittacosis
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  3. Replication by human DNA polymerase-iota occurs by Hoogsteen base-pairing. (PMID: 15254543) Nair DT … Aggarwal AK (Nature 2004) 3 4 22 58
  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 58
  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 58

Products for POLI Gene

Sources for POLI Gene

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