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

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

POLD4 Promotes Glioma Cell Proliferation and Suppressive Immune Microenvironment: A Pan-Cancer Analysis Integrated with Experimental Validation.
Title: POLD4 Promotes Glioma Cell Proliferation and Suppressive Immune Microenvironment: A Pan-Cancer Analysis Integrated with Experimental Validation.
Expression Profile, Molecular Association, and Clinical Significance of POLD4 in Glioblastoma.
Title: Expression Profile, Molecular Association, and Clinical Significance of POLD4 in Glioblastoma.
Circular RNA circ_0026359 Enhances Cisplatin Resistance in Gastric Cancer via Targeting miR-1200/POLD4 Pathway.
Title: Circular RNA circ_0026359 Enhances Cisplatin Resistance in Gastric Cancer via Targeting miR-1200/POLD4 Pathway.
The role in cellular processes (DNA replication, DNA repair, homologous recombination) and cell cycle regulation of 2 forms of human DNA polymerase delta: delta3 and delta4 was reviewed. (REVIEW)
Title: Two forms of human DNA polymerase δ: Who does what and why?
Human Poldelta is a pentameric complex with a dimeric p12 subunit. RKR-mediated dimerization plays a vital role in p12 binding to PCNA and Poldelta5 architecture, and the phenomenon appears to be conserved throughout evolution.
Title: Human DNA polymerase delta is a pentameric holoenzyme with a dimeric p12 subunit.
the p12/Pol delta is a target as a nuclear substrate of mu-calpain in a calcium-triggered apoptosis and appears to be a potential marker in the study of the chemotherapy of cancer therapies.
Title: Proteolysis of the human DNA polymerase delta smallest subunit p12 by μ-calpain in calcium-triggered apoptotic HeLa cells.
A parallel study of Pol delta4 and Pol delta3 in Okazaki fragment processing provides evidence for a role of Pol delta3 in DNA replication
Title: The tail that wags the dog: p12, the smallest subunit of DNA polymerase δ, is degraded by ubiquitin ligases in response to DNA damage and during cell cycle progression.
Findings provide evidence for the novel concept that Pol delta3 has a role in lagging strand synthesis, and that both forms of Pol delta3 and 4 may participate in DNA replication in higher eukaryotic cells.
Title: Dynamics of enzymatic interactions during short flap human Okazaki fragment processing by two forms of human DNA polymerase δ.
ubiquitination of p12 through CRL4(Cdt2) and subsequent degradation form one mechanism by which a cell responds to DNA damage to inhibit fork progression.
Title: Degradation of p12 subunit by CRL4Cdt2 E3 ligase inhibits fork progression after DNA damage.
Data indicate that CRL4(Cdt2) regulates the degradation of the p12 subunit of Pol delta4.
Title: A novel function of CRL4(Cdt2): regulation of the subunit structure of DNA polymerase δ in response to DNA damage and during the S phase.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

L17705 (e-PCR)
- UniSTS:66091

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

POLD4_3614 (e-PCR)
- UniSTS:462424

L18426 (e-PCR)
- UniSTS:34648

RH79802 (e-PCR)
- UniSTS:88688

WI-18546 (e-PCR)
- UniSTS:77427

D1S1425 (e-PCR)
- UniSTS:149621

D11S3114 (e-PCR)
- UniSTS:152207

D11S658 (e-PCR)
- UniSTS:148158

GDB:631813 (e-PCR)
- UniSTS:158430

D11S2875 (e-PCR)
- UniSTS:152053

A007C03 (e-PCR)
- UniSTS:53241

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

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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)

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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.

mRNA and Protein(s)

NM_001256870.2 → NP_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
NM_021173.5 → NP_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:50 → 94

DNA_pol_delta_4; DNA polymerase delta, subunit 4

RNA

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
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
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