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 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; chr1:40538382-40563142 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PPT1

Alleles and phenotypes

All alleles(5) : Targeted(4) Gene trapped(1)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (54 annotations)

Process	adult locomotory behavior, apoptotic DNA fragmentation, ...
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 Type	Results
RNA in situ	288

cDNA source data(206)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(217) Genomic(6) cDNA(207) 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 Knockout Project Status	Ppt1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000008871	VEGA Gene Model | MGI Sequence Detail	22934	C57BL/6J
transcript	OTTMUST00000020181	VEGA | MGI Sequence Detail	2381	Not Applicable
polypeptide	OTTMUSP00000009253	VEGA | MGI Sequence Detail	306	Not Applicable

All sequences(68) RefSeq(2) UniProt(11)

Polymorphisms

SNPs(155 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:194798 Khaibullina A, et al., In a model of batten disease, palmitoyl protein thioesterase-1 deficiency is associated with brown adipose tissue and thermoregulation abnormalities. PLoS One. 2012;7(11):e48733
All references(66)

Other accession IDs

MGI:1196214, MGI:1925934, MGI:2140181, MGI:2140662