AlphaFold predicted structure
ASPRV1 · Q53RT3
Mean pLDDT
69.7/ 100
Low
343 residues
Confidence breakdown
- Very high(≥ 90)41%
- Confident(70–90)14%
- Low(50–70)8%
- Very low(< 50)37%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
ASPRV1
Chr 2p13.3aspartic peptidase retroviral like 1
- Aliases:
- Taps, SASPase, FLJ25084
- MANE:
- ENST00000320256.6
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ichthyosis and erythrokeratoderma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
ichthyosis, lamellar, autosomal dominant
0.63lamellar ichthyosis
0.42hereditary disease
0.19Familial prostate cancer
0.11prostate cancer
0.11alcohol drinking
0.08metabolic disease
0.08hyperlipidemia
0.08acral peeling skin syndrome
0.07epidermolysis bullosa simplex 2E, with migratory circinate erythema
0.07
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Retroviral-like aspartic protease 1
Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization