AlphaFold predicted structure
XPA · P23025
Mean pLDDT
81.4/ 100
Confident
273 residues
Confidence breakdown
- Very high(≥ 90)51%
- Confident(70–90)21%
- Low(50–70)18%
- Very low(< 50)10%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
XPA
Chr 9q22.33XPA, DNA damage recognition and repair factor
- Aliases:
- XPAC, XP1
- MANE:
- ENST00000375128.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalChildhood solid tumours
BIALLELIC, autosomal or pseudoautosomalChildhood solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
BIALLELIC, autosomal or pseudoautosomalWhite matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
+5 more panels — install the extension to see the full list inline on any page.
Disease associations (Open Targets)
xeroderma pigmentosum
0.79xeroderma pigmentosum group A
0.78Xeroderma pigmentosum complementation group A
0.74basal cell carcinoma
0.59non-melanoma skin carcinoma
0.50skin cancer
0.50hereditary disease
0.47hypothyroidism
0.40neurodegenerative disease
0.39colorectal adenocarcinoma
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
DNA repair protein complementing XP-A cells
Involved in DNA nucleotide excision repair (NER). 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 (PubMed:19197159). During NER stimulates the 5'-3' helicase activity of XPD/ERCC2 and the DNA translocase activity of XPB/ERCC3 (PubMed:31253769). Connects XPD/ERCC2 and XPB/ERCC3 during NER, retaining DNA near the XPB/ERCC3 active site, and stabilizing the complex in a different conformation than in transcribing TFIIH (PubMed:31253769)
Diseases associated with XPA
Curated MONDO disease pages that list XPA among their top associated genes.