POLH Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
POLH
Official Name
DNA polymerase eta [Source:HGNC Symbol;Acc:HGNC:9181]
Ensembl ID
ENSG00000170734
Bio databases IDs NCBI: 5429 Ensembl: ENSG00000170734
Aliases DNA polymerase eta
Synonyms DNA polymerase eta, POL ETA, polymerase (DNA directed), eta (RAD 30 related), RAD30, RAD30A, XP-V
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human POLH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • UBZ domain
  • PCNA binding domain
  • damaged DNA binding
  • DNA-directed DNA polymerase
  • PCNA-interacting protein box
  • Ubiquitin-Binding Zinc Finger
  • nuclear localization sequence
  • enzyme
  • protein binding
  • zinc finger domain
  • impB/mucB/samB family
  • Y-family of DNA polymerases

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • squamous cell cancer
  • epithelial neoplasia
  • cancer
  • neoplasia
  • variant type xeroderma pigmentosum
  • xeroderma pigmentosum
  • hereditary disorder
regulated by
  • SUMO1
  • lipopolysaccharide
  • mir-17 (includes others)
  • topotecan
  • 5'-deoxyribose phosphate
  • caffeine
  • aphidicolin
  • AG538
  • PTTG1
  • 26S proteasome
regulates
role in cell
  • quantity
  • function
  • proliferation
  • phosphorylation in
  • killing
  • binding in
  • growth
  • survival
  • replication in
  • apoptosis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • cytoplasmic aggregates
  • cytosol
  • nuclear foci
  • nucleoplasm
  • DNA replication foci
  • chromatin
  • replication fork

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human POLH gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • DNA repair
  • cellular response to UV-C
  • pyrimidine dimer repair
  • DNA replication
  • regulation of DNA repair
  • response to radiation
  • error-prone translesion synthesis
  • response to UV-C
  • DNA synthesis involved in DNA repair
  • error-free translesion synthesis

Cellular Component

Where in the cell the gene product is active
  • replication fork
  • nucleus
  • site of double-strand break
  • cytosol
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • DNA-directed DNA polymerase activity
  • protein binding
  • metal ion binding
  • damaged DNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.