2. Gene
  3. POLH - DNA polymerase eta Gene

POLH - DNA polymerase eta Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16763556 GOA
Biological Process GO Annotation Evidence Reference 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: impB/mucB/samB family (12 - 227)

IMS_C

IMS_C: impB/mucB/samB family C-terminal domain (308 - 389)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10831 POLH Human Pre-designed siRNA Set A Pre-designed Sets / 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