Version 5.4
Mus musculus Gene: Ppt1
Summary
InnateDB Gene IDBG-184539.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Ppt1
Gene Name palmitoyl-protein thioesterase 1
Synonyms 9530043G02Rik; AA960502; C77813; CLN1; D4Ertd184e; INCL; PPT
Species Mus musculus
Ensembl Gene ENSMUSG00000028657
Encoded Proteins
IDBP-184541
palmitoyl-protein thioesterase 1
IDBP-184543
palmitoyl-protein thioesterase 1
IDBP-400279
palmitoyl-protein thioesterase 1
IDBP-400277
palmitoyl-protein thioesterase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000131238:
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 Information
Type Protein coding
Genomic Location Chromosome 4:122836242-122859175
Strand Forward strand
Band D2.2
Transcripts
ENSMUST00000030412 ENSMUSP00000030412
ENSMUST00000097902 ENSMUSP00000095512
ENSMUST00000121870 ENSMUSP00000113367
ENSMUST00000120157 ENSMUSP00000113258
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 12 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0008474 palmitoyl-(protein) hydrolase activity
GO:0016290 palmitoyl-CoA hydrolase activity
Biological Process
GO:0002084 protein depalmitoylation
GO:0006309 apoptotic DNA fragmentation
GO:0006464 cellular protein modification process
GO:0006898 receptor-mediated endocytosis
GO:0006907 pinocytosis
GO:0007040 lysosome organization
GO:0007042 lysosomal lumen acidification
GO:0007269 neurotransmitter secretion
GO:0007399 nervous system development
GO:0007420 brain development
GO:0007601 visual perception
GO:0007625 grooming behavior
GO:0008306 associative learning
GO:0008344 adult locomotory behavior
GO:0015031 protein transport
GO:0016042 lipid catabolic process
GO:0030308 negative regulation of cell growth
GO:0031579 membrane raft organization
GO:0032429 regulation of phospholipase A2 activity
GO:0043066 negative regulation of apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0044257 cellular protein catabolic process
GO:0044265 cellular macromolecule catabolic process
GO:0048260 positive regulation of receptor-mediated endocytosis
GO:0048549 positive regulation of pinocytosis
GO:0051181 cofactor transport
GO:0051186 cofactor metabolic process
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005764 lysosome
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0008021 synaptic vesicle
GO:0016020 membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0045121 membrane raft
GO:0045202 synapse
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000131238
View Gene Order
ENSBTAG00000013367
Not yet available
Pathways
NETPATH
REACTOME
KEGG
mmu00062
Fatty acid elongation pathway
mmu04142
Lysosome pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
hsa00062
Fatty acid elongation pathway
hsa04142
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL B1B0P8
UniProt Splice Variant
Entrez Gene 19063
UniGene Mm.398264 Mm.399900 Mm.452338
RefSeq NM_008917
OMIM
CCDS CCDS38870
HPRD
IMGT
MGI ID MGI:1298204
MGI Symbol Ppt1
EMBL BX545849
GenPept
RNA Seq Atlas 19063

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca