Sequence in raw or FASTA format:
POLH polymerase (DNA directed), eta [Homo sapiens (human)]
|Entrez Gene ID||5429|
|Full Name||polymerase (DNA directed), eta|
|Synonyms||RAD30, RAD30A, XP-V, XPV|
|General protein information||
|Organism||Homo sapiens (human)|
|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].|
Xeroderma pigmentosum, variant type, 278750 (3)
|hsa03460||Fanconi anemia pathway|
|REACT_2198||Translesion synthesis by DNA polymerases bypassing lesion on DNA template|
|REACT_1287||Translesion synthesis by Pol eta|
|REACT_2174||DNA Damage Bypass|
|Homo sapiens (human)||POLH||NP_006493.1|
|Pan troglodytes (chimpanzee)||POLH||XP_518497.1|
|Macaca mulatta (Rhesus monkey)||POLH||XP_002803805.1|
|Canis lupus familiaris (dog)||POLH||XP_532150.2|
|Bos taurus (cattle)||POLH||NP_001029622.1|
|Mus musculus (house mouse)||Polh||NP_109640.1|
|Rattus norvegicus (Norway rat)||Polh||NP_001101674.1|
|Gallus gallus (chicken)||POLH||NP_001001304.1|
|Danio rerio (zebrafish)||polh||NP_001035337.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||polh||XP_002942198.2|
|GO:0000731||DNA synthesis involved in DNA repair||IDA|
|GO:0006261||DNA-dependent DNA replication||IEA|
|GO:0006261||DNA-dependent DNA replication||TAS|
|GO:0006282||regulation of DNA repair||TAS|
|GO:0006290||pyrimidine dimer repair||IEA|
|GO:0010225||response to UV-C||IDA|
|GO:0003684||damaged DNA binding||IEA|
|GO:0003887||DNA-directed DNA polymerase activity||TAS|
|GO:0046872||metal ion binding||IEA|
What is the normal function of the POLH gene?
The POLH gene provides instructions for making a protein called DNA polymerase eta. DNA polymerases are a group of enzymes that "read" sequences of DNA and use them as templates to produce new DNA. These enzymes are important for copying (replicating) cells' genetic material in preparation for cell division. DNA polymerases also play critical roles in DNA repair.
The major function of DNA polymerase eta is to replicate DNA that has been damaged, particularly by ultraviolet (UV) rays from sunlight. Most other DNA polymerases are unable to replicate DNA with this type of damage. When they reach a segment of damaged DNA, they get stuck and the replication process stalls. However, when DNA polymerase eta encounters damaged DNA, it skips over the abnormal segment and continues copying. This activity, which is known as translesion synthesis, allows cells to tolerate some abnormalities created by UV exposure. Without this tolerance, unrepaired DNA damage would block DNA replication and cause the cell to die. Therefore, DNA polymerase eta plays an essential role in protecting cells from some of the effects of DNA damage.
DNA polymerase eta is a relatively "error-prone" polymerase. When it bypasses damaged DNA, it often inserts an incorrect DNA building block (nucleotide). This type of error results in a mutation in the replicated DNA.
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