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

Gene ID: 57804, updated on 24-Nov-2020

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
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

Genomic context

See POLD4 in Genome Data Viewer
Location:
11q13.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (67350765..67353596, complement)
105 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 ankyrin repeat domain 13D Neighboring gene slingshot protein phosphatase 3 Neighboring gene uncharacterized LOC100130987 Neighboring gene RN7SK pseudogene 239 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

Homology

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
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA damage response, detection of DNA damage TAS
Traceable Author Statement
more info
 
DNA synthesis involved in DNA repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-dependent DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mismatch repair TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA gap filling TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 5'-to lesion TAS
Traceable Author Statement
more info
 
telomere maintenance TAS
Traceable Author Statement
more info
 
telomere maintenance via semi-conservative replication TAS
Traceable Author Statement
more info
 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
translesion synthesis TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
delta DNA polymerase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    Q9HCU8
    UniProtKB/TrEMBL
    A0A024R5D7, 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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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