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Aliases for POLI Gene

Aliases for POLI Gene

  • Polymerase (DNA Directed) Iota 2 3
  • RAD30B 3 4 6
  • RAD30 Homolog B 3 4
  • Eta2 3 4
  • Polymerase (DNA-Directed), Iota 3
  • DNA Polymerase Iota 3
  • EC 2.7.7.7 4
  • RAD3OB 3

External Ids for POLI Gene

Previous Symbols for POLI Gene

  • RAD3OB
  • RAD30B

Summaries for POLI Gene

GeneCards Summary for POLI Gene

POLI (Polymerase (DNA Directed) Iota) is a Protein Coding gene. Diseases associated with POLI include tracheitis. Among its related pathways are Fanconi anemia pathway (KEGG). 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 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

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

Genomics for POLI Gene

Genomic Location for POLI Gene

Start:
54,269,404 bp from pter
End:
54,321,266 bp from pter
Size:
51,863 bases
Orientation:
Plus strand

Genomic View for POLI Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POLI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLI Gene

Regulatory Elements 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

Proteomics data for POLI Gene at MOPED

Post-translational modifications for POLI Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys292, Lys296, Lys308, Lys345, Lys547, and Lys575

No data available for DME Specific Peptides for POLI Gene

Domains for POLI Gene

Gene Families for POLI Gene

HGNC:
  • POL :DNA polymerases

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
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:
    • Q9UNA4
  • Contains 1 umuC domain.:
    • Q9UNA4
Family:
  • Belongs to the DNA polymerase type-Y family.:
    • Q9UNA4
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

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 IEA --
GO:0005515 protein binding IPI 16189514
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with POLI: view

Phenotypes for POLI Gene

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

miRNA for POLI Gene

miRTarBase miRNAs that target POLI

No data available for Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for POLI Gene COMPARTMENTS Subcellular localization image for POLI gene
Compartment Confidence
nucleus 5
cytosol 2
chloroplast 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for POLI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with POLI: view

Pathways for POLI Gene

SuperPathways for POLI Gene

Superpath Contained pathways
1 Fanconi anemia pathway (KEGG)
genes like me logo Genes that share pathways with POLI: view

Pathways by source for POLI Gene

1 KEGG pathway for POLI Gene

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 --
GO:0019985 translesion synthesis TAS --
GO:0042276 error-prone translesion synthesis TAS --
GO:0071897 DNA biosynthetic process --
genes like me logo Genes that share ontologies with POLI: view

Compounds for POLI Gene

(7) HMDB Compounds for POLI Gene

Compound Synonyms Cas Number PubMed IDs
dATP
  • 2'-Deoxy-5'-ATP
1927-31-7
dCTP
  • 2'-deoxycytidine-5'-triphosphate
2056-98-6
dGTP
  • 2'-Deoxyguanosine 5'-triphosphate
2564-35-4
Magnesium
  • Magnesium
7439-95-4
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2

(7) Novoseek inferred chemical compound relationships for POLI Gene

Compound -log(P) Hits PubMed IDs
dgtp 74.3 1
guanine 60 1
cytosine 58.2 1
thymine 57.1 2
adenine 51.5 4
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:

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 for POLI Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for POLI Gene

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.
genes like me logo Genes that share expressions with POLI: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.03 (n)
  • 98.47 (a)
POLI 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POLI 35
  • 88.25 (n)
  • 84.84 (a)
POLI 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POLI 35
  • 90.23 (n)
  • 87.95 (a)
POLI 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Poli 35
  • 79.9 (n)
  • 77.98 (a)
Poli 16
Poli 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POLI 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POLI 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Poli 35
  • 81.44 (n)
  • 80.65 (a)
lizard
(Anolis carolinensis)
Reptilia POLI 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia poli 35
  • 58.59 (n)
  • 55.38 (a)
Str.14738 35
zebrafish
(Danio rerio)
Actinopterygii poli 35
  • 57 (n)
  • 54.56 (a)
poli 36
  • 40 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta DNApol-iota 36
  • 31 (a)
OneToOne
DNApol-igr 37
  • 38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV1 36
  • 9 (a)
OneToMany
Species with no ortholog for POLI:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs8305 - 54,294,435(+) AGAGA(A/G)CAGGA missense, reference, intron-variant
rs476630 -- 54,284,454(-) TTCAC(A/G)GGTTT intron-variant
rs483640 -- 54,272,236(+) TGCTA(C/T)GCCAA intron-variant, upstream-variant-2KB
rs483971 -- 54,297,782(-) TGTGG(A/G)ATTTA utr-variant-3-prime, intron-variant
rs485974 -- 54,297,536(-) AATCC(A/C)AATAA utr-variant-3-prime, intron-variant

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

Variant ID Type Subtype PubMed ID
nsv433313 CNV Loss 18776910
nsv828244 CNV Loss 20364138

Relevant External Links for POLI Gene

HapMap Linkage Disequilibrium report
POLI

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

Disorders for POLI Gene

(1) MalaCards Diseases for POLI Gene

Search for POLI Gene in MalaCards »

(1) University of Copenhagen DISEASES for POLI Gene

(3) Novoseek inferred disease relationships for POLI Gene

Disease -log(P) Hits PubMed IDs
xeroderma pigmentosum 69.1 1
burkitt lymphoma 29.1 1
tumors 0 2

Relevant External Links for POLI

Genetic Association Database (GAD)
POLI
Human Genome Epidemiology (HuGE) Navigator
POLI
genes like me logo Genes that share disorders with POLI: view

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

Publications for POLI Gene

  1. Novel human and mouse homologs of Saccharomyces cerevisiae DNA polymerase eta. (PMID: 10458907) McDonald J.P. … Woodgate R. (Genomics 1999) 3 4 23
  2. Misinsertion and bypass of thymine-thymine dimers by human DNA polymerase iota. (PMID: 11013228) Tissier A. … Woodgate R. (EMBO J. 2000) 3 4 23
  3. 5'-deoxyribose phosphate lyase activity of human DNA polymerase iota in vitro. (PMID: 11251121) Bebenek K. … Kunkel T.A. (Science 2001) 3 4 23
  4. Altered nucleotide misinsertion fidelity associated with poliota- dependent replication at the end of a DNA template. (PMID: 11387224) Frank E.G. … Woodgate R. (EMBO J. 2001) 3 4 23
  5. Induction of somatic hypermutation in immunoglobulin genes is dependent on DNA polymerase iota. (PMID: 12410315) Faili A. … Weill J.-C. (Nature 2002) 3 4 23

Products for POLI Gene

Sources for POLI Gene

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