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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

Protein SuperFamily: palmitoyl-protein thioesterase
Gene Tree: Ppt1

Human
homologs
Human Homolog PPT1, palmitoyl-protein thioesterase 1
NCBI Gene ID 5538
neXtProt AC  NX_P50897
Human Synonyms  CLN1, INCL, PPT
Human Chr (Location)  1p32; chr1:40072710-40097470 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human PPT1
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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 Using Mouse Ppt1 (2)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)
Interactions
Ppt1 interacts with 306 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)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 288
cDNA source data(209)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(220) Genomic(6) cDNA(210) Primer pair(2) Other(2)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000008871 (Evidence)
Ensembl Gene ModelENSMUSG00000028657 (Evidence)
Entrez Gene19063 (Evidence)
UniGene277719
DFCITC1572193, TC1588571, TC1600339
NIA Mouse Gene IndexU004760
EC3.1.2.22
Consensus CDS ProjectCCDS38870.1
International Mouse Knockout Project StatusPpt1
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:207427 Sarkar C, et al., Neuroprotection and lifespan extension in Ppt1(-/-) mice by NtBuHA: therapeutic implications for INCL. Nat Neurosci. 2013 Nov;16(11):1608-17
All references(71)
Disease annotation references (4)
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
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory