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

Summary

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, Dec 2024]
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

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_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (2)
Gene trapped (1)
Spontaneous (1) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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

Process	Evidence Code	Pubs
involved_in 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

EC 2.7.7.7

NP_001276445.1

EC 2.7.7.7

NP_001390096.1

EC 2.7.7.7

NP_001390097.1

EC 2.7.7.7

NP_001390098.1

EC 2.7.7.7

NP_001390102.1

EC 2.7.7.7

NP_001390103.1

EC 2.7.7.7

NP_001390104.1

EC 2.7.7.7

NP_001390106.1

EC 2.7.7.7

NP_001390108.1

EC 2.7.7.7

NP_001390112.1

EC 2.7.7.7

NP_001390118.1

EC 2.7.7.7

NP_036102.2

EC 2.7.7.7

XP_030106327.1

EC 2.7.7.7

XP_036017052.1

EC 2.7.7.7

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)

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
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
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

UniProtKB/TrEMBL

G8DM28
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

UniProtKB/TrEMBL

G8DM28
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

UniProtKB/Swiss-Prot

Q641P1, Q6R3M3, Q6R3M4, Q9R1A6
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

UniProtKB/Swiss-Prot

Q641P1, Q6R3M3, Q6R3M4, Q9R1A6
NM_001403174.1 → NP_001390103.1 DNA polymerase iota isoform 8

Status: VALIDATED

Source sequence(s)

AC134831

UniProtKB/TrEMBL

Q3U3X3
NM_001403175.1 → NP_001390104.1 DNA polymerase iota isoform 7

Status: VALIDATED

Source sequence(s)

AC134831

UniProtKB/TrEMBL

Q3U3X3
NM_001403177.1 → NP_001390106.1 DNA polymerase iota isoform 8

Status: VALIDATED

Source sequence(s)

AC134831

UniProtKB/TrEMBL

Q3U3X3
NM_001403179.1 → NP_001390108.1 DNA polymerase iota isoform 7

Status: VALIDATED

Source sequence(s)

AC134831

UniProtKB/TrEMBL

Q3U3X3
NM_001403183.1 → NP_001390112.1 DNA polymerase iota isoform 1

Status: VALIDATED

Source sequence(s)

AC134831

UniProtKB/Swiss-Prot

Q641P1, Q6R3M3, Q6R3M4, Q9R1A6

UniProtKB/TrEMBL

A0A0R4J1Z5
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

UniProtKB/Swiss-Prot

Q641P1, Q6R3M3, Q6R3M4, Q9R1A6
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

NC_000084.7 Reference GRCm39 C57BL/6J

Range

70641754..70668021 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

XR_001782369.3 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.