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POLN DNA polymerase nu [ Homo sapiens (human) ]

Gene ID: 353497, updated on 21-Oct-2019

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

Genomic context

See POLN in Genome Data Viewer
Location:
4p16.3
Exon count:
26
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (2071918..2242121, complement)
105 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 HBS1 like translational GTPase pseudogene Neighboring gene N-acetyltransferase 8 like Neighboring gene cytochrome c oxidase subunit 6B1 pseudogene 5 Neighboring gene HAUS augmin like complex subunit 3 Neighboring gene microRNA 4800 Neighboring gene MAX dimerization protein 4 Neighboring gene zinc finger FYVE-type containing 28 Neighboring gene RNA, 7SL, cytoplasmic 589, pseudogene

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?

Pathways from BioSystems

  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
    Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-directed DNA polymerase activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-directed DNA polymerase activity TAS
Traceable Author Statement
more info
 
cyclin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA-dependent DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
interstrand cross-link repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
interstrand cross-link repair TAS
Traceable Author Statement
more info
 
translesion synthesis IDA
Inferred from Direct Assay
more info
PubMed 
translesion synthesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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 Annotation Release 109.20190905

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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