POLN DNA polymerase nu [Homo sapiens (human)] - Gene

Summary

Official Symbol: POLNprovided by HGNC
Official Full Name: DNA polymerase nuprovided by HGNC
Primary source: HGNC:HGNC:18870
See related: Ensembl:ENSG00000130997 MIM:610887; AllianceGenome:HGNC:18870
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: POL4P
Summary: This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014]
Expression: Broad expression in testis (RPKM 2.1), fat (RPKM 1.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p16.3

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (2071918..2242121, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (2070398..2240896, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (2073645..2243848, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Rare POLN mutations confer risk for familial nasopharyngeal carcinoma through weakened Epstein-Barr virus lytic replication.
Title: Rare POLN mutations confer risk for familial nasopharyngeal carcinoma through weakened Epstein-Barr virus lytic replication.
Next-Generation Sequencing-Based Analysis of the Roles of DNA Polymerases nu and theta in the Replicative Bypass of 8-Oxo-7,8-dihydroguanine in Human Cells.
Title: Next-Generation Sequencing-Based Analysis of the Roles of DNA Polymerases ν and θ in the Replicative Bypass of 8-Oxo-7,8-dihydroguanine in Human Cells.
Multiple deprotonation paths of the nucleophile 3'-OH in the DNA synthesis reaction.
Title: Multiple deprotonation paths of the nucleophile 3'-OH in the DNA synthesis reaction.
DNA polymerases eta and kappa bypass N(2)-guanine-O(6)-alkylguanine DNA alkyltransferase cross-linked DNA-peptides.
Title: DNA polymerases η and κ bypass N(2)-guanine-O(6)-alkylguanine DNA alkyltransferase cross-linked DNA-peptides.
Translesion synthesis of the major nitrogen mustard-induced DNA lesion by human DNA polymerase eta.
Title: Translesion synthesis of the major nitrogen mustard-induced DNA lesion by human DNA polymerase η.
The roles of polymerases nu and theta in replicative bypass of O (6)- and N (2)-alkyl-2'-deoxyguanosine lesions in human cells.
Title: The roles of polymerases ν and θ in replicative bypass of O(6)- and N(2)-alkyl-2'-deoxyguanosine lesions in human cells.
Crystallographic evidence for two-metal-ion catalysis in human pol eta.
Title: Crystallographic evidence for two-metal-ion catalysis in human pol η.
the Poleta-oxaliplatin-GpG structure provides a structural basis for TLS-mediated bypass of the major oxaliplatin-DNA adducts and insights into resistance to platinum-based chemotherapy in humans.
Title: Structural basis for the bypass of the major oxaliplatin-DNA adducts by human DNA polymerase η.
These results suggest that hpol eta is one of the major reverse transcriptases involved in physiological processes in human cells.
Title: Human DNA polymerase η has reverse transcriptase activity in cellular environments.
Data suggest that translesion DNA synthesis mediated by (1) POLI-dependent pathway (2) REV1- and POLN-dependent pathway, or (3) POLtheta-dependent pathway occur in predominantly error-free manner in human cells. (POLI = DNA polymerase iota; REV1 = DNA repair protein-REV1; POLN = DNA polymerase nu; POLtheta = DNA polymerase theta)
Title: Genetic control of predominantly error-free replication through an acrolein-derived minor-groove DNA adduct.

Submit: New GeneRIF Correction See all GeneRIFs (26)

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

EBI GWAS Catalog

Description
A comprehensive genetic association study of Alzheimer disease in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

G16699 (e-PCR)
- UniSTS:29952

D4S608 (e-PCR)
- UniSTS:22530

D11S2921 (e-PCR)
- UniSTS:152074

D4S166 (e-PCR)
- UniSTS:147242

G01869 (e-PCR)
- UniSTS:27703

D4S573 (e-PCR)
- UniSTS:79426

L18426 (e-PCR)
- UniSTS:34648

D4S1182 (e-PCR)
- UniSTS:43625

SHGC-50695 (e-PCR)
- UniSTS:25730

G34191 (e-PCR)
- UniSTS:27013

RH103127 (e-PCR)
- UniSTS:97461

Gene Ontology Provided by GOA

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 DNA-directed DNA polymerase activity	TAS Traceable Author Statement more info
enables cyclin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA-templated DNA replication	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interstrand cross-link repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interstrand cross-link repair	TAS Traceable Author Statement more info
involved_in translesion synthesis	IDA Inferred from Direct Assay more info	PubMed
involved_in translesion synthesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
NOT located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA polymerase nu

Names: DNA polymerase N; DNA polymerase POL4P; polymerase (DNA directed) nu; polymerase (DNA) nu

NP_861524.2

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.

Genomic

NG_046934.1 RefSeqGene

Range

5044..175247

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_181808.4 → NP_861524.2 DNA polymerase nu

See identical proteins and their annotated locations for NP_861524.2

Status: REVIEWED

Source sequence(s)

AK303673, AL122048, AL136360, AY136549, DB098342

Consensus CDS

CCDS3360.1

UniProtKB/Swiss-Prot

A2A336, B4E158, Q4TTW4, Q6ZNF4, Q7Z5Q5

Related

ENSP00000435506.1, ENST00000511885.6

Conserved Domains (2) summary

cd08638
Location:443 → 855

DNA_pol_A_theta; DNA polymerase theta is a low-fidelity family A enzyme implicated in translesion synthesis and in somatic hypermutation

cl10012
Location:273 → 436

DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily