POLE4 - DNA polymerase epsilon 4, accessory subunit Gene

Homo sapiens

Also known as p12; YHHQ1

Gene ID: 56655 | Gene type: protein coding

About POLE4

Cytogenetic location: 2p12 Genomic coordinates (GRCh38): 2:74,958,643-74,970,128 (from NCBI)

This gene has 6 transcripts (splice variants), 180 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 27.9), bone marrow (RPKM 20.0) and 25 other tissues.

Summary

POLE4 is a histone-fold protein that interacts with Other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

POLE4 Products(1)

mRNA	Protein	Name
NM_019896.4	NP_063949.2	DNA polymerase epsilon subunit 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10801849	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA-templated DNA replication	IDA IDA: Inferred from direct assay	33051204	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of ATAC complex	IDA IDA: Inferred from direct assay	18838386	GOA
part of epsilon DNA polymerase complex	IDA IDA: Inferred from direct assay	10801849	GOA
part of epsilon DNA polymerase complex	IPI IPI: Inferred from physical interaction	10801849	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POLE4 Protein Structure

CBFD_NFYB_HMF

0
100
117 a.a.

Protein Preferred Names

Protein Names

DNA polymerase epsilon subunit 4

DNA polymerase II subunit 4

POLE4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	POLE4	Q9NR33	PRKAR1B	Homo sapiens	P31321	Y2H Prey Pooling	32296183
Intra	POLE4	Q9NR33	PRKAR1B	Homo sapiens	P31321	Y2H Array	32296183
Intra	POLE4	Q9NR33	NFYB	Homo sapiens	P25208	Y2H Array	32296183
Intra	POLE4	Q9NR33	NFYB	Homo sapiens	P25208	Y2H Prey Pooling	32296183
Intra	POLE4	Q9NR33	NFYB	Homo sapiens	P25208	Y2H Prey Pooling	25416956
Cross	POLE4	Q9NR33	ORF	Human immunodeficiency virus	Q9Q2G4	Pull Down	22190034
Intra	POLE4	Q9NR33	POLE3	Homo sapiens	Q9NRF9	Y2H Prey Pooling	32296183
Intra	POLE4	Q9NR33	POLE3	Homo sapiens	Q9NRF9	Validated Y2H	32296183
Intra	POLE4	Q9NR33	POLE3	Homo sapiens	Q9NRF9	Y2H Array	32296183
Intra	POLE4	Q9NR33	POLE3	Homo sapiens	Q9NRF9	Anti Tag CoIP	10801849

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Van Esch-O'Driscoll Syndrome

X-Linked Intellectual Disability, Van Esch Type	VEODS
Mrxsveod	Mental Retardation, X-Linked, Syndromic, Van Esch-O'Driscoll Type
X-Linked Syndromic Mental Retardation Van Esch-O'Driscoll Type

Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies

Image Syndrome	IMAGE
Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome	Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities	Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies
Image Anomaly	Image Association
Fetal Growth Retardation	Pyle Metaphyseal Dysplasia

Heinz Body Anemias

Heinz Body Anemia	Heinz Body Anemias, Alpha-
HEIBAN	Anemia, Heinz Body
Acquired Heinz Body Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10828	POLE4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	POLE4	MGD	MGI:1914229
Rattus norvegicus	POLE4	RGD	RGD:1307793
Macaca mulatta	POLE4	VGNC	VGNC:76065
Bos taurus	POLE4	VGNC	VGNC:33121
Felis catus	POLE4	VGNC	VGNC:81151

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