PPT1

Also known as CLN1, INCL, PPT, palmitoyl-protein thioesterase 1

Palmitoyl-protein thioesterase 1 (PPT-1), also known as palmitoyl-protein hydrolase 1, is an enzyme that in humans is encoded by the PPT1 gene.

Gene data

PPT1

Name: palmitoyl-protein thioesterase 1
Type: protein-coding
Position: 40,072,710–40,097,267 (−)
Aliases: CLN1, INCL, PPT
Ensembl: ENSG00000131238
RefSeq RNA: NM_000310.4, NM_001142604.2, NM_001363695.2
RefSeq protein: NP_000301.1, NP_001136076.1, NP_001350624.1

The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008].

Pathways

Fatty acid elongation - Homo sapiens (human)Lysosome - Homo sapiens (human)Metabolism Metabolism of lipids Fatty acyl-CoA biosynthesis Fatty acid metabolism

via MyGene.info

Gene · Ensembl

palmitoyl-protein thioesterase 1

Symbol: PPT1
Biotype: Protein coding
Organism: Homo sapiens
Location: 1:40,072,710-40,097,267
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image: PDB 1eh5 EBI.jpg

Show 6 more facts

HomoloGene ID: 7488
exact match: identifiers.org/ncbigene/5538
genomic end: 40097260
genomic start: 40072710
cytogenetic location: 1p34.2
Commons category: Palmitoyl protein thioesterase 1

Sources (7)

via Wikidata · CC0

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Article

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Contents

Function
Clinical significance
References
Further reading
External links

Palmitoyl-protein thioesterase 1 (PPT-1), also known as palmitoyl-protein hydrolase 1, is an enzyme that in humans is encoded by the PPT1 gene.

== Function == PPT-1 a member of the palmitoyl protein thioesterase family. PPT-1 is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. This enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues.