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MGP002406

UniProt Annotations

Entry Information
Gene Namepalmitoyl-protein thioesterase 1
Protein EntryPPT1_HUMAN
UniProt IDP50897
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P50897-1; Sequence=Displayed; Name=2; IsoId=P50897-2; Sequence=VSP_042033; Note=No experimental confirmation available.;
Catalytic ActivityPalmitoyl-[protein] + H(2)O = palmitate + [protein].
DiseaseCeroid lipofuscinosis, neuronal, 1 (CLN1) [MIM:256730]: A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). {ECO:0000269|PubMed:11506414, ECO:0000269|PubMed:19201763, ECO:0000269|PubMed:21990111, ECO:0000269|PubMed:7637805, ECO:0000269|PubMed:9425237, ECO:0000269|PubMed:9664077}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionRemoves thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation. Prefers acyl chain lengths of 14 to 18 carbons.
SimilarityBelongs to the palmitoyl-protein thioesterase family. {ECO:0000305}.
Subcellular LocationLysosome.
Web ResourceName=Mutations of the PPT1 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/pptmut.htm";
Web ResourceName=NCL CLN1; Note=Neural Ceroid Lipofuscinoses mutation db; URL="http://www.ucl.ac.uk/ncl/cln1.shtml";
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