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Description for Protein POLH

polymerase (DNA directed), eta
10 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.7.7.7
KEGG - Orthology:
K03509
KEGG - Pathway(s):
None Available
Nomenclature / Alternative Names:
RAD30A; RP11-22I24.1; FLJ16395; FLJ21978; XP-V; XPV; OTTHUMP00000039868
Approved Symbol:
POLH
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 4
Human (de-) phosphorylation sites: 4; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Xeroderma pigmentosum, variant type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04913 Entrez Gene ID: 5429 OMIM ID: 603968 Swissprot Accession: Q9Y253;