AlphaFold predicted structure
GPAA1 · O43292
Mean pLDDT
87.3/ 100
Confident
621 residues
Confidence breakdown
- Very high(≥ 90)64%
- Confident(70–90)27%
- Low(50–70)6%
- Very low(< 50)4%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
GPAA1
Chr 8q24.3glycosylphosphatidylinositol anchor attachment 1
- Aliases:
- GAA1, hGAA1
- MANE:
- ENST00000355091.9
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia
BIALLELIC, autosomal or pseudoautosomalHereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalAdult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
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Disease associations (Open Targets)
glycosylphosphatidylinositol biosynthesis defect 15
0.81hereditary disease
0.42Global developmental delay
0.37urinary bladder cancer
0.19retinitis pigmentosa
0.10neoplasm
0.09hepatocellular carcinoma
0.09edema
0.08Cone rod dystrophy
0.08gastric cancer
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
GPI-anchor transamidase component GPAA1
Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:11483512, PubMed:29100095, PubMed:34576938, PubMed:35165458, PubMed:35551457, PubMed:37684232, PubMed:9468317). Binds GPI-anchor (PubMed:37684232)