About   Help   FAQ
Ppt1
Gene Detail
Symbol

Name
ID
Ppt1
palmitoyl-protein thioesterase 1
MGI:1298204
Synonyms
9530043G02Rik, CLN1, D4Ertd184e
Feature Type
protein coding gene
Genetic Map
Chromosome 4
57.27 cM, cytoband D1-D3
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr4:122836242-122859175 bp, + strand
From VEGA annotation of GRCm38

  22934 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7488  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PPT1
Protein SuperFamily: palmitoyl-protein thioesterase
Gene Tree: Ppt1

Human
homologs
PPT1, palmitoyl-protein thioesterase 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 5538
neXtProt AC: NX_P50897

Human Synonyms: CLN1, INCL, PPT

Human Chr (Location): 1p32; chr1:40072710-40097470 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PPT1

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(1) Targeted(6)
Genomic Mutations involving Ppt1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for a targeted null mutation exhibit neuronal loss associated with accumulation of autofluorescent storage material in brain, late-onset progressive motor defects, seizures, and death by 10 months of age.
 
Human Diseases Modeled in Mice Using Ppt1 (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(1)
Interactions
Ppt1 interacts with 305 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (57 annotations)
Process adult locomotory behavior, associative learning, ...
Component axon, dendrite, ...
Function hydrolase activity, palmitoyl-CoA hydrolase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (288)    Tissues (104)    Images (44)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 288
cDNA source data(209)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ppt1    NEW 
Molecular
reagents
All nucleic(220) Genomic(6) cDNA(210) Primer pair(2) Other(2)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000008871 (Evidence)
Ensembl Gene Model ENSMUSG00000028657 (Evidence)
Entrez Gene 19063 (Evidence)
UniGene 277719
DFCI TC1572193, TC1588571, TC1600339
NIA Mouse Gene Index U004760
EC 3.1.2.22
Consensus CDS Project CCDS38870.1
International Mouse Phenotyping Consortium Status Ppt1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000008871 VEGA Gene Model | MGI Sequence Detail 22934 C57BL/6J ±  kb
transcript OTTMUST00000020181 VEGA | MGI Sequence Detail 2381 Not Applicable 
polypeptide OTTMUSP00000009253 VEGA | MGI Sequence Detail 306 Not Applicable 

For the selected sequences
All sequences(69) RefSeq(3) UniProt(11)
Polymorphisms
SNPs within 2kb(226 from dbSNP Build 137)    SNPs within 2kb including multiple locations(232)
Protein-related
information
ResourceIDDescription
InterPro IPR002472 Palmitoyl protein thioesterase
Protein Ontology PR:000013160 palmitoyl-protein thioesterase 1
References
(Earliest) J:49059 Salonen T, et al., Mouse palmitoyl protein thioesterase: gene structure and expression of cDNA. Genome Res. 1998 Jul;8(7):724-30
(Latest) J:216609 Macauley SL, et al., An anti-neuroinflammatory that targets dysregulated glia enhances the efficacy of CNS-directed gene therapy in murine infantile neuronal ceroid lipofuscinosis. J Neurosci. 2014 Sep 24;34(39):13077-82
All references(73)
Disease annotation references (6)
Other
accession IDs
MGI:1196214, MGI:1925934, MGI:2140181, MGI:2140662

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/18/2015
MGI 6.0
The Jackson Laboratory