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Gene: PPT1 (palmitoyl-protein thioesterase 1) Homo sapiens
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Symbol: PPT1
Name: palmitoyl-protein thioesterase 1
Description: Exhibits palmitoyl-(protein) hydrolase activity and palmitoyl-CoA hydrolase activity. Involved in several processes, including endocytosis; lysosomal lumen acidification; and positive regulation of endocytosis. Localizes to several cellular components, including the Golgi apparatus; membrane raft; and synaptic vesicle. Implicated in neuronal ceroid lipofuscinosis 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ceroid-palmitoyl-palmitoyl-protein thioesterase 1; CLN1; INCL; palmitoyl-protein hydrolase 1; palmitoyl-protein thioesterase; PPT; PPT-1
Orthologs:
Mus musculus (house mouse) : Ppt1 (palmitoyl-protein thioesterase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ppt1 (palmitoyl-protein thioesterase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ppt1 (palmitoyl-protein thioesterase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : PPT1 (palmitoyl-protein thioesterase 1)
Canis lupus familiaris (dog) : PPT1 (palmitoyl-protein thioesterase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ppt1 (palmitoyl-protein thioesterase 1)
Sus scrofa (pig) : PPT1 (palmitoyl-protein thioesterase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38140,071,461 - 40,097,470 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37140,538,382 - 40,563,142 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36140,310,969 - 40,335,555 (-)NCBINCBI36hg18NCBI36
Build 34140,207,476 - 40,232,061NCBI
Celera138,820,669 - 38,845,442 (-)NCBI
Cytogenetic Map1p34.2NCBI
HuRef138,656,433 - 38,681,192 (-)NCBIHuRef
CHM1_1140,653,983 - 40,678,773 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on PPT1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736552
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-10-16
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.