POLH - DNA polymerase eta Gene

Homo sapiens

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

Gene ID: 5429 | Gene type: protein coding

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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10831	POLH Human Pre-designed siRNA Set A		/	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