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MGP003330

UniProt Annotations

Entry Information
Gene Namexeroderma pigmentosum, complementation group A
Protein EntryXPA_HUMAN
UniProt IDP23025
SpeciesHuman
Comments
Comment typeDescription
DiseaseXeroderma pigmentosum complementation group A (XP-A) [MIM:278700]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-A patients show the most severe skin symptoms and progressive neurological disorders. {ECO:0000269|PubMed:1339397, ECO:0000269|PubMed:1372103, ECO:0000269|PubMed:9671271}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in DNA excision repair. Initiates repair by binding to damaged sites with various affinities, depending on the photoproduct and the transcriptional state of the region. Required for UV-induced CHEK1 phosphorylation and the recruitment of CEP164 to cyclobutane pyrimidine dimmers (CPD), sites of DNA damage after UV irradiation. {ECO:0000269|PubMed:19197159}.
InteractionP15927:RPA2; NbExp=4; IntAct=EBI-295222, EBI-621404; Q96EB6:SIRT1; NbExp=8; IntAct=EBI-295222, EBI-1802965; Q9HCS7:XAB2; NbExp=2; IntAct=EBI-295222, EBI-295232;
PtmATR-dependent phosphorylation of XPA at Ser-196 is important for cell survival in response to UV damage. {ECO:0000269|PubMed:16540648}.
PtmUbiquitinated by HERC2 leading to degradation by the proteasome. {ECO:0000269|PubMed:20304803}.
SimilarityBelongs to the XPA family. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000269|PubMed:1918083, ECO:0000269|PubMed:19197159, ECO:0000269|PubMed:20304803}.
SubunitInteracts with GPN1. Interacts with RPA1 and RPA2; the interaction is direct and associates XPA with the RPA complex. Interacts (via N-terminus) with CEP164 upon UV irradiation. Interacts with HERC2. {ECO:0000269|PubMed:10563794, ECO:0000269|PubMed:19197159, ECO:0000269|PubMed:20304803, ECO:0000269|PubMed:7700386, ECO:0000269|PubMed:9699634}.
Tissue SpecificityExpressed in various cell lines and in skin fibroblasts. {ECO:0000269|PubMed:1918083, ECO:0000269|PubMed:8543191}.
Web ResourceName=Allelic variations of the XP genes; URL="http://www.xpmutations.org/";
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/XPAID104.html";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/xpa/";
Web ResourceName=Protein Spotlight; Note=Nature's flaws - Issue 142 of September 2012; URL="http://web.expasy.org/spotlight/back_issues/142";
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