POLI DNA polymerase iota [Homo sapiens (human)] - Gene

Summary

Official Symbol: POLIprovided by HGNC
Official Full Name: DNA polymerase iotaprovided by HGNC
Primary source: HGNC:HGNC:9182
See related: Ensembl:ENSG00000101751 MIM:605252; AllianceGenome:HGNC:9182
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: eta2; RAD30B; RAD3OB
Summary: 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]
Expression: Ubiquitous expression in thyroid (RPKM 9.1), testis (RPKM 7.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.2

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (54269479..54321266)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (54472557..54524344)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (51795849..51847636)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

p53 isoforms differentially impact on the POLiota dependent DNA damage tolerance pathway.
Title: p53 isoforms differentially impact on the POLι dependent DNA damage tolerance pathway.
Impact of the interplay between stemness features, p53 and pol iota on replication pathway choices.
Title: Impact of the interplay between stemness features, p53 and pol iota on replication pathway choices.
Three Human Pol iota Variants with Impaired Polymerase Activity Fail to Rescue H2O2 Sensitivity in POLI-Deficient Cells.
Title: Three Human Pol ι Variants with Impaired Polymerase Activity Fail to Rescue H(2)O(2) Sensitivity in POLI-Deficient Cells.
Mysterious and fascinating: DNA polymerase i remains enigmatic 20 years after its discovery.
Title: Mysterious and fascinating: DNA polymerase ɩ remains enigmatic 20 years after its discovery.
DNA polymerase iota compensates for Fanconi anemia pathway deficiency by countering DNA replication stress.
Title: DNA polymerase ι compensates for Fanconi anemia pathway deficiency by countering DNA replication stress.
Multiple biochemical properties of the p53 molecule contribute to activation of polymerase iota-dependent DNA damage tolerance.
Title: Multiple biochemical properties of the p53 molecule contribute to activation of polymerase iota-dependent DNA damage tolerance.
Polymerase iota - an odd sibling among Y family polymerases.
Title: Polymerase iota - an odd sibling among Y family polymerases.
These results indicated that Pol iota induced invasion and metastasis of ESCC cells is mediated by ETS-1 phosphorylation at threonine-38 through the Erk signaling pathway.
Title: Phosphorylation of ETS-1 is a critical event in DNA polymerase iota-induced invasion and metastasis of esophageal squamous cell carcinoma.
our results elucidate that elevated Pol iota iota expression enhances breast cancer migration and invasion through EGFR-ERK pathway-mediated EMT.
Title: DNA polymerase iota (Pol ι) promotes the migration and invasion of breast cancer cell via EGFR-ERK-mediated epithelial to mesenchymal transition.
data are consistent with an important role of the N-terminal region in the dRP(5'-deoxyribose-5-phosphate)-lyase activity of Pol iota, with possible involvement of residues from the finger domain in the dRP group cleavage.
Title: Identification of amino acid residues involved in the dRP-lyase activity of human Pol ι.

Submit: New GeneRIF Correction See all GeneRIFs (61)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

POLI_3544 (e-PCR)
- UniSTS:462427

PMC35453P1 (e-PCR)
- UniSTS:273249

D10S16 (e-PCR)
- UniSTS:155756

RH122562 (e-PCR)
- UniSTS:138626

RH67916 (e-PCR)
- UniSTS:34753

RH102380 (e-PCR)
- UniSTS:96714

WI-11064 (e-PCR)
- UniSTS:71151

Gene Ontology Provided by GOA

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	TAS Traceable Author Statement more info
enables damaged DNA binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
involved_in error-prone translesion synthesis	TAS Traceable Author Statement more info
involved_in translesion synthesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasmic ribonucleoprotein granule	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: DNA polymerase iota

Names: RAD30 homolog B; polymerase (DNA directed) iota; polymerase (DNA) iota; polymerase (DNA-directed), iota

NP_001338539.1

EC 2.7.7.7

NP_001338540.1

EC 2.7.7.7

NP_001338541.1

EC 2.7.7.7

NP_001338542.1

EC 2.7.7.7

NP_001338543.1

EC 2.7.7.7

NP_001338544.1

EC 2.7.7.7

NP_001338545.1

EC 2.7.7.7

NP_001338546.1

EC 2.7.7.7

NP_001338547.1

EC 2.7.7.7

NP_001338548.1

EC 2.7.7.7

NP_001338549.1

EC 2.7.7.7

NP_001338550.1

EC 2.7.7.7

NP_001338561.1

EC 2.7.7.7

NP_009126.2

EC 2.7.7.7

XP_005258249.1

EC 2.7.7.7

XP_011524099.1

EC 2.7.7.7

XP_024306849.1

EC 2.7.7.7

XP_054174139.1

EC 2.7.7.7

XP_054174140.1

EC 2.7.7.7

XP_054174141.1

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_001351610.1 → NP_001338539.1 DNA polymerase iota isoform b

Status: REVIEWED

Source sequence(s)

AC093462

UniProtKB/TrEMBL

X6R2I3

Conserved Domains (1) summary

cl25410
Location:39 → 395

PolY; Y-family of DNA polymerases
NM_001351611.2 → NP_001338540.1 DNA polymerase iota isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3), as well as variant 4, encodes isoform c.

Source sequence(s)

AC093462

UniProtKB/TrEMBL

X6R2I3

Related

ENSP00000217800.6, ENST00000217800.9

Conserved Domains (1) summary

cd01703
Location:1 → 369

PolY_Pol_iota; DNA Polymerase iota
NM_001351612.2 → NP_001338541.1 DNA polymerase iota isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variant 3, encodes isoform c.

Source sequence(s)

AC093462

UniProtKB/TrEMBL

X6R2I3

Conserved Domains (1) summary

cd01703
Location:1 → 369

PolY_Pol_iota; DNA Polymerase iota
NM_001351613.1 → NP_001338542.1 DNA polymerase iota isoform d

Status: REVIEWED

Source sequence(s)

AC093462

Consensus CDS

CCDS86669.1

UniProtKB/TrEMBL

B7Z780, J3KQ09

Related

ENSP00000385196.3, ENST00000406285.7

Conserved Domains (1) summary

cl28996
Location:56 → 358

PolY; Y-family of DNA polymerases
NM_001351614.2 → NP_001338543.1 DNA polymerase iota isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variant 7, encodes isoform e.

Source sequence(s)

AC093462

Consensus CDS

CCDS86670.1

UniProtKB/TrEMBL

J3KSW2, X6R2I3

Conserved Domains (1) summary

cl25410
Location:1 → 334

PolY; Y-family of DNA polymerases
NM_001351615.2 → NP_001338544.1 DNA polymerase iota isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variant 6, encodes isoform e.

Source sequence(s)

AC093462

Consensus CDS

CCDS86670.1

UniProtKB/TrEMBL

J3KSW2, X6R2I3

Related

ENSP00000462681.1, ENST00000579434.5

Conserved Domains (1) summary

cl25410
Location:1 → 334

PolY; Y-family of DNA polymerases
NM_001351616.1 → NP_001338545.1 DNA polymerase iota isoform f

Status: REVIEWED

Source sequence(s)

AC093462

UniProtKB/TrEMBL

B7Z780

Conserved Domains (2) summary

cl09928
Location:333 → 465

Molybdopterin-Binding; Molybdopterin-Binding (MopB) domain of the MopB superfamily of proteins, a large, diverse, heterogeneous superfamily of enzymes that, in general, bind molybdopterin as a cofactor. The MopB domain is found in a wide variety of molybdenum- and ...

cl25410
Location:39 → 316

PolY; Y-family of DNA polymerases
NM_001351617.2 → NP_001338546.1 DNA polymerase iota isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (9), as well as variants 10 and 11, encodes isoform g.

Source sequence(s)

AC093462

UniProtKB/TrEMBL

X6R2I3

Conserved Domains (2) summary

cl09928
Location:273 → 405

Molybdopterin-Binding; Molybdopterin-Binding (MopB) domain of the MopB superfamily of proteins, a large, diverse, heterogeneous superfamily of enzymes that, in general, bind molybdopterin as a cofactor. The MopB domain is found in a wide variety of molybdenum- and ...

cl25410
Location:8 → 256

PolY; Y-family of DNA polymerases
NM_001351618.2 → NP_001338547.1 DNA polymerase iota isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variants 9 and 11, encodes isoform g.

Source sequence(s)

AC093462

UniProtKB/TrEMBL

X6R2I3

Conserved Domains (2) summary

cl09928
Location:273 → 405

Molybdopterin-Binding; Molybdopterin-Binding (MopB) domain of the MopB superfamily of proteins, a large, diverse, heterogeneous superfamily of enzymes that, in general, bind molybdopterin as a cofactor. The MopB domain is found in a wide variety of molybdenum- and ...

cl25410
Location:8 → 256

PolY; Y-family of DNA polymerases
NM_001351619.2 → NP_001338548.1 DNA polymerase iota isoform g

Status: REVIEWED

Description

Transcript Variant: This variant (11), as well as variants 9 and 10, encodes isoform g.

Source sequence(s)

AC093462

UniProtKB/TrEMBL

X6R2I3

Conserved Domains (2) summary

cl09928
Location:273 → 405

Molybdopterin-Binding; Molybdopterin-Binding (MopB) domain of the MopB superfamily of proteins, a large, diverse, heterogeneous superfamily of enzymes that, in general, bind molybdopterin as a cofactor. The MopB domain is found in a wide variety of molybdenum- and ...

cl25410
Location:8 → 256

PolY; Y-family of DNA polymerases
NM_001351620.2 → NP_001338549.1 DNA polymerase iota isoform h

Status: REVIEWED

Source sequence(s)

AC093462

Conserved Domains (2) summary

cl09928
Location:194 → 326

Molybdopterin-Binding; Molybdopterin-Binding (MopB) domain of the MopB superfamily of proteins, a large, diverse, heterogeneous superfamily of enzymes that, in general, bind molybdopterin as a cofactor. The MopB domain is found in a wide variety of molybdenum- and ...

cl25410
Location:7 → 177

PolY; Y-family of DNA polymerases
NM_001351621.1 → NP_001338550.1 DNA polymerase iota isoform i

Status: REVIEWED

Source sequence(s)

AC093462

Conserved Domains (1) summary

cl25410
Location:56 → 423

PolY; Y-family of DNA polymerases
NM_001351632.2 → NP_001338561.1 DNA polymerase iota isoform a (short)

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes two different proteins, isoform a (long) and isoform a (short). This particular record shows the short form, which originates by use of an in-frame downstream translation start codon compared to the long form. This short form lacks the N-terminal 25 aa present in the long form and represents the predominant isoform found in human cells.

Source sequence(s)

AC093462, BC032662, BM993293, DA315805, DB450447

UniProtKB/TrEMBL

X6R2I3

Conserved Domains (1) summary

cd01703
Location:31 → 412

PolY_Pol_iota; DNA Polymerase iota
NM_007195.3 → NP_009126.2 DNA polymerase iota isoform a (long)

See identical proteins and their annotated locations for NP_009126.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest protein [isoform a (long)]. However, this full length (740 aa) form is a minor form. A downstream translation start site is more commonly used, resulting in a 715 aa protein [isoform a (short)].

Source sequence(s)

AC093462

Consensus CDS

CCDS11954.2

UniProtKB/Swiss-Prot

Q8N590, Q9H0S1, Q9NYH6, Q9UNA4

UniProtKB/TrEMBL

X6R2I3

Related

ENSP00000462664.1, ENST00000579534.6

Conserved Domains (2) summary

cd01703
Location:56 → 437

PolY_Pol_iota; DNA Polymerase iota

COG0389
Location:53 → 390

DinP; Nucleotidyltransferase/DNA polymerase involved in DNA repair [Replication, recombination and repair]

RNA

NR_147257.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC093462

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

54269479..54321266

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011525797.2 → XP_011524099.1 DNA polymerase iota isoform X2

See identical proteins and their annotated locations for XP_011524099.1

Conserved Domains (1) summary

cl25410
Location:56 → 423

PolY; Y-family of DNA polymerases
XM_005258192.5 → XP_005258249.1 DNA polymerase iota isoform X3

Conserved Domains (2) summary

COG0389
Location:53 → 390

DinP; Nucleotidyltransferase/DNA polymerase involved in DNA repair [Replication, recombination and repair]

cl12025
Location:56 → 399

PolY; Y-family of DNA polymerases
XM_024451081.2 → XP_024306849.1 DNA polymerase iota isoform X1

UniProtKB/TrEMBL

J3KSW2, X6R2I3

Conserved Domains (1) summary

cl25410
Location:1 → 334

PolY; Y-family of DNA polymerases