AlphaFold predicted structure
PPT1 · P50897
Mean pLDDT
91.7/ 100
Very high
306 residues
Confidence breakdown
- Very high(≥ 90)82%
- Confident(70–90)6%
- Low(50–70)9%
- Very low(< 50)3%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PPT1
Chr 1p34.2palmitoyl-protein thioesterase 1
- Aliases:
- CLN1, INCL
- MANE:
- ENST00000642050.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalLysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomalNeuronal ceroid lipofuscinosis
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
neuronal ceroid lipofuscinosis 1
0.84neuronal ceroid lipofuscinosis
0.68CLN1 disease
0.59hereditary disease
0.53Alzheimer disease
0.48Parkinson disease
0.48infantile neuronal ceroid lipofuscinosis
0.47lysosomal storage disease
0.46neurodegenerative disease
0.46multiple sclerosis
0.46
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Palmitoyl-protein thioesterase 1
Has thioesterase activity against fatty acid thioesters with 14 -18 carbons, including palmitoyl-CoA, S-palmitoyl-N-acetylcysteamine, and palmitoylated proteins (PubMed:12855696, PubMed:26731412, PubMed:8816748). In contrast to PPT2, PPT1 can hydrolyze palmitoylated proteins and palmitoylcysteine (PubMed:12855696)