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Poli polymerase (DNA directed), iota [ Mus musculus (house mouse) ]

Gene ID: 26447, updated on 21-Apr-2024

Summary

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Official Symbol
Poliprovided by MGI
Official Full Name
polymerase (DNA directed), iotaprovided by MGI
Primary source
MGI:MGI:1347081
See related
Ensembl:ENSMUSG00000038425 AllianceGenome:MGI:1347081
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Rad30b
Summary
Enables DNA-directed DNA polymerase activity. Acts upstream of or within cellular response to UV-C and translesion synthesis. Predicted to be located in cytoplasmic ribonucleoprotein granule and nuclear speck. Is expressed in brain; metanephros; primary spermatocyte; spermatid; and testis. Orthologous to human POLI (DNA polymerase iota). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 4.0), CNS E18 (RPKM 2.2) and 26 other tissues See more
Orthologs
human all
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Genomic context

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Location:
18 44.48 cM; 18 E2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (70641754..70668021, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (70508680..70534950, complement)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 31620 Neighboring gene RIKEN cDNA 4930503L19 gene Neighboring gene STARR-positive B cell enhancer ABC_E11002 Neighboring gene StAR related lipid transfer domain containing 6 Neighboring gene STARR-positive B cell enhancer ABC_E1519 Neighboring gene STARR-positive B cell enhancer ABC_E8725 Neighboring gene microRNA 6357 Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:70722848-70723181 Neighboring gene STARR-seq mESC enhancer starr_44965 Neighboring gene predicted gene, 31671 Neighboring gene methyl-CpG binding domain protein 2 Neighboring gene STARR-seq mESC enhancer starr_44968 Neighboring gene STARR-positive B cell enhancer ABC_E968 Neighboring gene 60S ribosomal protein L5 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Alternative splicing at exon 2 results in the loss of the catalytic activity of mouse DNA polymerase iota in vitro. Kazachenko KY, et al. DNA Repair (Amst), 2017 Feb. PMID 28077248
  2. Mouse DNA polymerase ι lacking the forty-two amino acids encoded by exon-2 is catalytically inactive in vitro. Frank EG, et al. DNA Repair (Amst), 2017 Feb. PMID 28077247, Free PMC Article
  3. DNA polymerase ι functions in the generation of tandem mutations during somatic hypermutation of antibody genes. Maul RW, et al. J Exp Med, 2016 Aug 22. PMID 27455952, Free PMC Article
  4. 129-Derived Mouse Strains Express an Unstable but Catalytically Active DNA Polymerase Iota Variant. Aoufouchi S, et al. Mol Cell Biol, 2015 Sep 1. PMID 26124279, Free PMC Article
  5. Genetic linkage between Pol iota deficiency and increased susceptibility to lung tumors in mice. Lee GH, et al. Cancer Sci, 2005 May. PMID 15904465

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DNA polymerase iota promotes EMT and metastasis of esophageal squamous cell carcinoma by interacting with USP7 to stabilize HIF-1alpha.
    Title: DNA polymerase iota promotes EMT and metastasis of esophageal squamous cell carcinoma by interacting with USP7 to stabilize HIF-1α.
  2. Pol iota occasionally accesses the replication fork to generate a first mutation, and Pol zeta extends the mismatch with a second mutation.
    Title: DNA polymerase ι functions in the generation of tandem mutations during somatic hypermutation of antibody genes.
  3. Exon 2 deletion abrogates both the DNA polymerase and dRP lyase activities of Pol iota in the presence of either Mg(2+) or Mn(2+) ions. Thus, 129-derived strains of mice express catalytically inactive alternatively spliced Pol iota variant.
    Title: Alternative splicing at exon 2 results in the loss of the catalytic activity of mouse DNA polymerase iota in vitro.
  4. Mouse DNA polymerase iota lacking exon 2 (42 amino acids) is catalytically inactive in vitro.
    Title: Mouse DNA polymerase ι lacking the forty-two amino acids encoded by exon-2 is catalytically inactive in vitro.
  5. PolH contributes to accurate translesion synthesis (TLS) past both T- & C-containing dimers. PolI is involved in error-prone TLS past cytosine-containing dimers when Poleta is inactivated.
    Title: UV-induced mutations in epidermal cells of mice defective in DNA polymerase η and/or ι.
  6. Poliota causes the Par2 effect and inhibits tumorigenesis and mutagenesis
    Title: The error-prone DNA polymerase ι provides quantitative resistance to lung tumorigenesis and mutagenesis in mice.
  7. in mammalian cells, both polymerases kappa and iota are necessary for the error-free bypass of N(2)-CEdG and N(2)-CMdG.
    Title: The roles of DNA polymerases κ and ι in the error-free bypass of N2-carboxyalkyl-2'-deoxyguanosine lesions in mammalian cells.
  8. Upon DNA damage, the UBDs (UBM domains) of polymerase iota (Pol iota) interact with ubiquitinated proliferating cell nuclear antigen to regulate the interchange between processive DNA polymerases and translesional synthesis
    Title: Structural analysis of the conserved ubiquitin-binding motifs (UBMs) of the translesion polymerase iota in complex with ubiquitin.
  9. In the presence of Mg2+, the enzyme was active only in testicles and brain, whereas in the presence of Mn2+ the activity was found in all organs.
    Title: Effect of human cell malignancy on activity of DNA polymerase iota.
  10. Pol iota gene may participate in error-free repair of damaged DNA and prevention of lung tumor development
    Title: Genetic linkage between Pol iota deficiency and increased susceptibility to lung tumors in mice.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-directed DNA polymerase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables damaged DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotidyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within DNA biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within DNA repair IEA
Inferred from Electronic Annotation
more info
  
involved_in DNA repair IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within DNA replication IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within cellular response to UV-C IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within cellular response to UV-C IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in translesion synthesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within translesion synthesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasmic ribonucleoprotein granule ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear speck ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
DNA polymerase iota
Names
RAD30 homolog B
NP_001129562.1
NP_001276445.1
NP_001390096.1
NP_001390097.1
NP_001390098.1
NP_001390102.1
NP_001390103.1
NP_001390104.1
NP_001390106.1
NP_001390108.1
NP_001390112.1
NP_001390118.1
NP_036102.2
XP_030106327.1
XP_036017052.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001136090.3 → NP_001129562.1  DNA polymerase iota isoform 1

    See identical proteins and their annotated locations for NP_001129562.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 2. This results in an isoform (1) that has a shorter N-terminus, compared to isoform 2.
    Source sequence(s)
    AC134831
    Consensus CDS
    CCDS50317.1
    UniProtKB/Swiss-Prot
    Q641P1, Q6R3M3, Q6R3M4, Q9R1A6
    UniProtKB/TrEMBL
    A0A0R4J1Z5
    Related
    ENSMUSP00000124877.2, ENSMUST00000161542.8
    Conserved Domains (1) summary
    cl28996
    Location:1 → 368
    PolY; Y-family of DNA polymerases

  2. NM_001289516.2 → NP_001276445.1  DNA polymerase iota isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences in the 5' UTR and coding region and and initiates translation at a downstream start codon, compared to variant 2. This results in an isoform (4) that is shorter, compared to isoform 2.
    Source sequence(s)
    AC134831
    Consensus CDS
    CCDS79660.1
    UniProtKB/Swiss-Prot
    Q641P1, Q6R3M3, Q6R3M4, Q9R1A6
    UniProtKB/TrEMBL
    E9Q3H9
    Related
    ENSMUSP00000123964.2, ENSMUST00000159389.8
    Conserved Domains (1) summary
    cl12025
    Location:1 → 345
    PolY; Y-family of DNA polymerases

  3. NM_001403167.1 → NP_001390096.1  DNA polymerase iota isoform 6 (long)

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) encodes two different proteins, isoform 6 (long) and isoform 6 (short). Variant 6 encodes isoform 6 (long). However, this full length (736 aa) form is a minor form. A downstream translation start site is more commonly used, resulting in a 716 aa protein [isoform 6 (short)]
    Source sequence(s)
    AC134831

  4. NM_001403168.1 → NP_001390097.1  DNA polymerase iota isoform 5 (long)

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) encodes two different proteins, isoform 5 (long) and isoform 5 (short). Variant 5 encodes isoform 5 (long). However, this full length (695 aa) form is a minor form. A downstream translation start site is more commonly used, resulting in a 675 aa protein [isoform 5 (short)]
    Source sequence(s)
    AC134831

  5. NM_001403169.1 → NP_001390098.1  DNA polymerase iota isoform 6 (short)

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14) encodes isoform 6 (short). This particular record shows the short protein isoform, which originates by use of an in-frame downstream translation start codon compared to the long isoform. This short isoform lacks the N-terminal 20 aa present in the long isoform and represents the more common isoform found in mouse cells.
    Source sequence(s)
    AC134831

  6. NM_001403173.1 → NP_001390102.1  DNA polymerase iota isoform 5 (short)

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13) encodes isoform 5 (short). This particular record shows the short protein isoform, which originates by use of an in-frame downstream translation start codon compared to the long isoform. This short isoform lacks the N-terminal 20 aa present in the long isoform and represents the more common isoform found in mouse cells.
    Source sequence(s)
    AC134831

  7. NM_001403174.1 → NP_001390103.1  DNA polymerase iota isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC134831

  8. NM_001403175.1 → NP_001390104.1  DNA polymerase iota isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC134831

  9. NM_001403177.1 → NP_001390106.1  DNA polymerase iota isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC134831

  10. NM_001403179.1 → NP_001390108.1  DNA polymerase iota isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC134831

  11. NM_001403183.1 → NP_001390112.1  DNA polymerase iota isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC134831
    UniProtKB/TrEMBL
    A0A0R4J1Z5

  12. NM_001403189.1 → NP_001390118.1  DNA polymerase iota isoform 2 (short)

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12) encodes isoform 2 (short). This particular record shows the short protein isoform, which originates by use of an in-frame downstream translation start codon compared to the long isoform. This short isoform lacks the N-terminal 20 aa present in the long isoform and represents the more common isoform found in mouse cells.
    Source sequence(s)
    AC134831

  13. NM_011972.3 → NP_036102.2  DNA polymerase iota isoform 2 (long)

    See identical proteins and their annotated locations for NP_036102.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes two different proteins, isoform 2 (long) and isoform 2 (short). Variant 2 encodes the longest protein [isoform 2 (long)]. However, this full length (737 aa) form is a minor form. A downstream translation start site is more commonly used, resulting in a 717 aa protein [isoform 2 (short)]
    Source sequence(s)
    AC134831
    Consensus CDS
    CCDS29334.2
    UniProtKB/TrEMBL
    E9QJU6, G8DM28
    Related
    ENSMUSP00000112563.3, ENSMUST00000121674.9
    Conserved Domains (2) summary
    cd01703
    Location:51 → 431
    PolY_Pol_iota; DNA Polymerase iota
    cd19318
    Location:699 → 727
    Rev1_UBM2; Ubiquitin-Binding Motif 2 (UBM2) of Y-family polymerase Rev1

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000084.7 Reference GRCm39 C57BL/6J

    Range
    70641754..70668021 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036161159.1 → XP_036017052.1  DNA polymerase iota isoform X4

    UniProtKB/TrEMBL
    Q3U3X3
    Conserved Domains (2) summary
    cd19318
    Location:545 → 573
    Rev1_UBM2; Ubiquitin-Binding Motif 2 (UBM2) of Y-family polymerase Rev1
    cl28996
    Location:38 → 277
    PolY; Y-family of DNA polymerases

  2. XM_030250467.2 → XP_030106327.1  DNA polymerase iota isoform X4

    UniProtKB/TrEMBL
    Q3U3X3
    Conserved Domains (2) summary
    cd19318
    Location:545 → 573
    Rev1_UBM2; Ubiquitin-Binding Motif 2 (UBM2) of Y-family polymerase Rev1
    cl28996
    Location:38 → 277
    PolY; Y-family of DNA polymerases

RNA

  1. XR_001782369.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001289515.1: Suppressed sequence

    Description
    NM_001289515.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6R3M4.1 GenPept UniProtKB/Swiss-Prot:Q6R3M4

Gene LinkOut

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