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POLH

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.
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Spermatocytes)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Cell line enhanced (U-698)

Interaction

Interacts with REV1 (By similarity). Interacts with monoubiquitinated PCNA, but not unmodified PCNA (PubMed:15149598). Interacts with POLI; this interaction targets POLI to the replication machinery (PubMed:12606586). Interacts with PALB2 and BRCA2; the interactions are direct and are required to sustain the recruitment of POLH at blocked replication forks and to stimulate POLH-dependent DNA synthesis on D loop substrates (PubMed:24485656). Interacts (via C-terminus) with TRAIP (PubMed:24553286). Interacts with ubiquitin (PubMed:16357261). Interacts with POLDIP2 (PubMed:20554254).

Molecular function

DNA-binding, DNA-directed DNA polymerase, Mutator protein, Nucleotidyltransferase, Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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