Statements (29)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
gptkb:XPAC
XP1 |
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:xeroderma_pigmentosum
|
gptkbp:discoveredIn |
1990
|
gptkbp:encodes |
XPA protein
|
gptkbp:Entrez_Gene_ID |
7507
|
gptkbp:expressedIn |
gptkb:nucleus
|
gptkbp:fullName |
xeroderma pigmentosum group A gene
|
gptkbp:function |
nucleotide excision repair
DNA damage recognition |
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
12814
|
https://www.w3.org/2000/01/rdf-schema#label |
XPA gene
|
gptkbp:interactsWith |
RPA protein
TFIIH complex ERCC1 protein |
gptkbp:length |
6 exons
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_9
9q22.3 |
gptkbp:mutationAssociatedWith |
increased sensitivity to UV light
predisposition to skin cancer |
gptkbp:OMIM |
611153
|
gptkbp:orthologInMouse |
Xpa
|
gptkbp:orthologInYeast |
RAD14
|
gptkbp:UniProtID |
gptkb:P23025
|
gptkbp:bfsParent |
gptkb:XPA
|
gptkbp:bfsLayer |
8
|