PPT1
Sign in to saveAlso 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.
In the Vinony graph
Vinony's link graph records 30 inbound references to PPT1, and connects out to PubMed, human chromosome 1 and Ensembl genome database project.
Vinony files it under EC 3.1.2 and Genes on human chromosome 1.
Vinony links it to 5 Wikipedia language editions.
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].
Gene Ontology
Biological process
Molecular function
Pathways
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
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- PDB 1eh5 EBI.jpg
Show 8 more facts
- HomoloGene ID
- 7488
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/5538
- genomic end
- 40097260
- genomic start
- 40072710
- chromosome
- human chromosome 1
- cytogenetic location
- 1p34.2
- Commons category
- Palmitoyl protein thioesterase 1
Sources (7)
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- 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.
Excerpted from Wikipedia’s “PPT1” article, available under the CC BY-SA 4.0 licence.