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Sequence in raw or FASTA format:

Database:

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POLH polymerase (DNA directed), eta [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001291969 Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001291970 Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_006502 Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005249186 PREDICTED: Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_006715118 PREDICTED: Homo sapiens polymerase (DNA directed), eta (POLH), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $699.00 18

*Business Day

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Gene Symbol POLH
Entrez Gene ID 5429
Full Name polymerase (DNA directed), eta
Synonyms RAD30, RAD30A, XP-V, XPV
General protein information
Preferred Names
DNA polymerase eta
Names
DNA polymerase eta
RAD30 homolog A
xeroderma pigmentosum variant type protein
NP_006493.1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6p21.1

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].
Disorder

MIM: 603968

Xeroderma pigmentosum, variant type, 278750 (3)

mRNA Protein Product Sequence Price Select
NM_001291969, 634743303 NP_001278898, 634743304 DNA polymerase eta isoform 2 ORF Sequence $700.00
NM_001291970, 634743305 NP_001278899, 634743306 DNA polymerase eta isoform 3 ORF Sequence $400.00
NM_006502, 170650686 NP_006493, 5729982 DNA polymerase eta isoform 1 ORF Sequence $700.00
XM_005249186, 530382161 XP_005249243, 530382162 DNA polymerase eta isoform X1 ORF Sequence $700.00
XM_006715118, 578811742 XP_006715181, 578811743 DNA polymerase eta isoform X2 ORF Sequence $550.00
KEGG
hsa03460Fanconi anemia pathway
Reactome
REACT_216DNA Repair
REACT_2198Translesion synthesis by DNA polymerases bypassing lesion on DNA template
REACT_1287Translesion synthesis by Pol eta
REACT_2174DNA Damage Bypass
Homo sapiens (human)POLHNP_006493.1
Pan troglodytes (chimpanzee)POLHXP_518497.1
Macaca mulatta (Rhesus monkey)POLHXP_002803805.1
Canis lupus familiaris (dog)POLHXP_532150.2
Bos taurus (cattle)POLHNP_001029622.1
Mus musculus (house mouse)PolhNP_109640.1
Rattus norvegicus (Norway rat)PolhNP_001101674.1
Gallus gallus (chicken)POLHNP_001001304.1
Danio rerio (zebrafish)polhNP_001035337.1
Caenorhabditis eleganspolh-1NP_497480.2
Xenopus (Silurana) tropicalis (western clawed frog)polhXP_002942198.2
Process
IDNameEvidence
GO:0000731DNA synthesis involved in DNA repairIDA
GO:0006261DNA-dependent DNA replicationIEA
GO:0006261DNA-dependent DNA replicationTAS
GO:0006281DNA repairTAS
GO:0006282regulation of DNA repairTAS
GO:0006290pyrimidine dimer repairIEA
GO:0006301postreplication repairIEA
GO:0010225response to UV-CIDA
Component
IDNameEvidence
GO:0005654nucleoplasmTAS
Function
IDNameEvidence
GO:0003684damaged DNA bindingIEA
GO:0003887DNA-directed DNA polymerase activityTAS
GO:0005515protein bindingIPI
GO:0046872metal ion bindingIEA
GeneCards POLH
UniProt Q9Y253, B4DG64
Vega OTTHUMG00000014743
MIM 603968
Ensembl ENSG00000170734
HGNC 9181
HPRD 04913

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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