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MGP000984

UniProt Annotations

Entry Information
Gene Nameexcision repair cross-complementation group 5
Protein EntryERCC5_HUMAN
UniProt IDP28715
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P28715-1; Sequence=Displayed; Name=2; IsoId=P28715-2; Sequence=VSP_035380; Name=3; IsoId=P28715-3; Sequence=VSP_053828, VSP_053829; Note=No experimental confirmation available. Includes a cryptic exon found in intron 6.;
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250}; Note=Binds 2 magnesium ions per subunit. They probably participate in the reaction catalyzed by the enzyme. May bind an additional third magnesium ion after substrate binding. {ECO:0000250};
DiseaseXeroderma pigmentosum complementation group G (XP-G) [MIM:278780]: 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. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. {ECO:0000269|PubMed:11228268, ECO:0000269|PubMed:11841555, ECO:0000269|PubMed:12060391, ECO:0000269|PubMed:7951246, ECO:0000269|PubMed:9096355}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionSingle-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too.
SimilarityBelongs to the XPG/RAD2 endonuclease family. XPG subfamily. {ECO:0000305}.
Subcellular LocationNucleus {ECO:0000269|PubMed:7651464}.
SubunitInteracts with PCNA. {ECO:0000269|PubMed:9305916}.
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/XPGID300.html";
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ercc5/";
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