AlphaFold predicted structure
PGAP1 · Q75T13
Mean pLDDT
89.1/ 100
Confident
922 residues
Confidence breakdown
- Very high(≥ 90)72%
- Confident(70–90)21%
- Low(50–70)4%
- Very low(< 50)3%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PGAP1
Chr 2q33.1post-GPI attachment to proteins inositol deacylase 1
- Aliases:
- FLJ12377, Bst1, SPG67
- MANE:
- ENST00000354764.9
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalAdult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomalChildhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomalHereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
autosomal recessive non-syndromic intellectual disability
0.67hereditary disease
0.51Rare genetic intellectual disability with developmental anomaly
0.43autosomal recessive spastic paraplegia type 67
0.37hereditary spastic paraplegia
0.19thyroid cancer
0.18neurodevelopmental disorder
0.15alcohol drinking
0.11myopia
0.11pathological myopia
0.11
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
GPI inositol-deacylase
GPI inositol-deacylase that catalyzes the remove of the acyl chain linked to the 2-OH position of inositol ring from the GPI-anchored protein (GPI-AP) in the endoplasmic reticulum (PubMed:24784135, PubMed:38167496). Initiates the post-attachment remodeling phase of GPI-AP biogenesis and participates in endoplasmic reticulum (ER)-to-Golgi transport of GPI-anchored protein (PubMed:24784135, PubMed:38167496)