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Description for Protein XPC

xeroderma pigmentosum, complementation group C
20 total interacting proteins; 9 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K10838
KEGG - Pathway(s):
hsa03420
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
XPCC; XP group C; XP3; DNA repair protein complementing XP-C cells; P125
Approved Symbol:
XPC
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 26
Human (de-) phosphorylation sites: 26; 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, complementation group C(Pd);
  • Xeroderma pigmentosum, complementation group C, with autism and hypoglycinemia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02046 Entrez Gene ID: 7508 OMIM ID: 613208 Swissprot Accession: Q01831; B4DIP3;