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POLN DNA polymerase nu [ Homo sapiens (human) ]

Gene ID: 353497, updated on 5-Jan-2022

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
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
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Genomic context

See POLN in Genome Data Viewer
Location:
4p16.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (2071918..2242121, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2073645..2243848, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene negative elongation factor complex member A Neighboring gene chromosome 4 open reading frame 48 Neighboring gene N-acetyltransferase 8 like Neighboring gene HBS1 like translational GTPase pseudogene Neighboring gene Sharpr-MPRA regulatory region 8787 Neighboring gene cytochrome c oxidase subunit 6B1 pseudogene 5 Neighboring gene HAUS augmin like complex subunit 3 Neighboring gene CRISPRi-validated cis-regulatory element chr4.319 Neighboring gene microRNA 4800 Neighboring gene MAX dimerization protein 4

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A comprehensive genetic association study of Alzheimer disease in African Americans.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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-dependent DNA replication IEA
Inferred from Electronic Annotation
more info
 
involved_in double-strand break repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

Preferred Names
DNA polymerase nu
Names
DNA polymerase N
DNA polymerase POL4P
polymerase (DNA directed) nu
polymerase (DNA) nu
NP_861524.2

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

  1. NG_046934.1 RefSeqGene

    Range
    5044..175247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_181808.4NP_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
    Q7Z5Q5
    Related
    ENSP00000435506.1, ENST00000511885.6
    Conserved Domains (2) summary
    cd08638
    Location:443855
    DNA_pol_A_theta; DNA polymerase theta is a low-fidelity family A enzyme implicated in translesion synthesis and in somatic hypermutation
    cl10012
    Location:273436
    DnaQ_like_exo; DnaQ-like (or DEDD) 3'-5' exonuclease domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    2071918..2242121 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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