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    POLN DNA polymerase nu [ Homo sapiens (human) ]

    Gene ID: 353497, updated on 5-Mar-2024

    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
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    Genomic context

    See POLN in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (2071918..2242121, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (2070398..2240896, complement)
    105.20220307 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 uncharacterized LOC124900839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2042861-2043362 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15155 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2068259-2068872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2071383-2072064 Neighboring gene NELL2 interacting cell ontogeny regulator 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2077922-2078535 Neighboring gene HBS1 like translational GTPase pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2094512-2095012 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2095013-2095513 Neighboring gene N-acetyltransferase 8 like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2127861-2128566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2128567-2129273 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2137419-2137918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2136917-2137418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21164 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr4:2143774-2144295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15156 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:2175172-2176371 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:2188158-2188330 Neighboring gene Sharpr-MPRA regulatory region 8787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15157 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2222888-2223812 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:2243031-2243532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15158 Neighboring gene cytochrome c oxidase subunit 6B1 pseudogene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:2258841-2258999 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2262363-2262955 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2264187-2264848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2264849-2265508 Neighboring gene CRISPRi-validated cis-regulatory element chr4.319 Neighboring gene HAUS augmin like complex subunit 3 Neighboring gene microRNA 4800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2282283-2282784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2282785-2283284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2287193-2287694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2287695-2288194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2290045-2290567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15163 Neighboring gene MAX dimerization protein 4 Neighboring gene zinc finger FYVE-type containing 28 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15164 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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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
      A2A336, B4E158, Q4TTW4, Q6ZNF4, 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      2070398..2240896 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)