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    POLD4 DNA polymerase delta 4, accessory subunit [ Homo sapiens (human) ]

    Gene ID: 57804, updated on 10-Dec-2024

    Summary

    Official Symbol
    POLD4provided by HGNC
    Official Full Name
    DNA polymerase delta 4, accessory subunitprovided by HGNC
    Primary source
    HGNC:HGNC:14106
    See related
    Ensembl:ENSG00000175482 MIM:611525; AllianceGenome:HGNC:14106
    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
    p12; POLDS
    Summary
    This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in lymph node (RPKM 33.7), small intestine (RPKM 29.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See POLD4 in Genome Data Viewer
    Location:
    11q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (67350765..67353596, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (67344877..67347708, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67118236..67121067, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67057124-67058048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67058049-67058971 Neighboring gene ankyrin repeat domain 13D Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67070151-67070668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67070669-67071188 Neighboring gene slingshot protein phosphatase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5086 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5085 Neighboring gene uncharacterized LOC100130987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67119697-67120279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:67120280-67120861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5089 Neighboring gene RN7SK pseudogene 239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:67134979-67135478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3628 Neighboring gene cardiotrophin like cytokine factor 1

    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

    Potential readthrough

    Included gene: CLCF1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA synthesis involved in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA-templated DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in DNA-templated DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of delta DNA polymerase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of delta DNA polymerase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    DNA polymerase delta subunit 4
    Names
    DNA polymerase delta smallest subunit p12
    polymerase (DNA) delta 4, accessory subunit
    polymerase (DNA-directed), delta 4, accessory subunit

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001256870.2NP_001243799.1  DNA polymerase delta subunit 4 isoform 2

      See identical proteins and their annotated locations for NP_001243799.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AP003419, BG403692, BG576821
      Consensus CDS
      CCDS58149.1
      UniProtKB/Swiss-Prot
      Q9HCU8
      Related
      ENSP00000444780.1, ENST00000539074.1
    2. NM_021173.5NP_066996.3  DNA polymerase delta subunit 4 isoform 1

      See identical proteins and their annotated locations for NP_066996.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF179890, AP003419, BC070250
      Consensus CDS
      CCDS8158.1
      UniProtKB/Swiss-Prot
      F5H506, Q9HCU8
      UniProtKB/TrEMBL
      Q6NSD7
      Related
      ENSP00000311368.3, ENST00000312419.8
      Conserved Domains (1) summary
      pfam04081
      Location:5094
      DNA_pol_delta_4; DNA polymerase delta, subunit 4

    RNA

    1. NR_046411.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP003419, BC001334, BG576821
    2. NR_046412.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AP003419, BG576821, BP263644
    3. NR_046413.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
      Source sequence(s)
      AP003419, BM697399
      Related
      ENST00000529704.5

    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

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      67350765..67353596 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      67344877..67347708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)