InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: XPA

Summary

InnateDB Protein

IDBP-78002.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

XPA

Protein Name

xeroderma pigmentosum, complementation group A

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000364270

InnateDB Gene

IDBG-78000 (XPA)

Protein Structure

UniProt Annotation

Function

Involved 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:0000269PubMed:19197159}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:1918083, ECO:0000269PubMed:19197159, ECO:0000269PubMed:20304803}.

Disease Associations

Xeroderma 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:0000269PubMed:1339397, ECO:0000269PubMed:1372103, ECO:0000269PubMed:9671271}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in various cell lines and in skin fibroblasts. {ECO:0000269PubMed:1918083, ECO:0000269PubMed:8543191}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	34 [view]
Protein-Protein	33 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003684	damaged DNA binding
GO:0005515	protein binding
GO:0019904	protein domain specific binding
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding

Biological Process

GO:0000718	nucleotide-excision repair, DNA damage removal
GO:0006281	DNA repair
GO:0006289	nucleotide-excision repair
GO:0006979	response to oxidative stress
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
GO:0009411	response to UV
GO:0009636	response to toxic substance
GO:0035264	multicellular organism growth

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005662	DNA replication factor A complex
GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0045171	intercellular bridge