POLH - DNA polymerase eta Gene

Also Known as XPV; XP-V; RAD30; RAD30A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5429

About POLH

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:43,576,185-43,620,523 (from NCBI)

This gene has 3 transcripts (splice variants), 200 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lymph node (RPKM 4.3), testis (RPKM 3.5) and 25 other tissues.

Summary

This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than Other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

POLH Products (3)

mRNA	Protein	Name
NM_001291969.2	NP_001278898.1	DNA polymerase eta isoform 2
NM_001291970.2	NP_001278899.1	DNA polymerase eta isoform 3
NM_006502.3	NP_006493.1	DNA polymerase eta isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16763556	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in DNA synthesis involved in DNA repair	IDA IDA: Inferred from direct assay	17563354	GOA
involved in response to UV-C	IDA IDA: Inferred from direct assay	17563354	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

POLH Protein Structure

IMS

IMS_C

0
200
400
600
713 a.a.

Protein Preferred Names	Protein Names
DNA polymerase eta	DNA polymerase eta transcript

POLH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	POLH	Q9Y253	PALB2	Homo sapiens	Q86YC2	IF	24485656
Intra	POLH	Q9Y253	PALB2	Homo sapiens	Q86YC2	Anti Bait CoIP	24485656
Intra	POLH	Q9Y253	UBC	Homo sapiens	P0CG48	NMR	17304240
Intra	POLH	Q9Y253	UBC	Homo sapiens	P0CG48	Y2H	16763556
Intra	POLH	Q9Y253	BRCA2	Homo sapiens	P51587	Anti Bait CoIP	24485656
Intra	POLH	Q9Y253	PCNA	Homo sapiens	Q6FI35	Pull Down	16763556

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
De Sanctis-Cacchione Syndrome	Xerodermic Idiocy Xeroderma Pigmentosum With Neurologic Manifestation DSC Xerodermic Idiocy Of De Sanctis And Cacchione
Skin Carcinoma	Skin Cancer Carcinoma Of Skin Ca - Skin Cancer Cancer Of Skin Malignant Neoplasm Of Skin Melanoma And Non-Melanoma Skin Cancer Skin Cancers Cancer, Skin
Diamond-Blackfan Anemia 9	DBA9 Rps10-Related Diamond-Blackfan Anemia Anemia, Diamond-Blackfan, Type 9
Ruijs-Aalfs Syndrome	Progeroid Features-Hepatocellular Carcinoma Predisposition Syndrome RJALS
Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Group G Xeroderma Pigmentosum Vii Xp7 XPG Xeroderma Pigmentosum Group G Xp Group G Xp, Group G Xpgc Xeroderma Pigmentosum, Group G/Cockayne Syndrome Xeroderma Pigmentosum, Type 7 Xeroderma Pigmentosum Complementation Group G XP-G Xp-G/Cs Xeroderma Pigmentosum Group G/Cockayne Syndrome
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis 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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS22285	Polh Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10831	POLH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28808	Polh Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	POLH	VGNC	VGNC:68942
Macaca mulatta	POLH	VGNC	VGNC:76207
Mus musculus	POLH	MGD	MGI:1891457
Canis familiaris	POLH	VGNC	VGNC:44783
Bos taurus	POLH	VGNC	VGNC:33124
Rattus norvegicus	POLH	RGD	RGD:1309893
Others	POLH	NCBI