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Ppt1 Gene Detail
Summary
  • Symbol
    Ppt1
  • Name
    palmitoyl-protein thioesterase 1
  • Synonyms
    9530043G02Rik, CLN1, D4Ertd184e
  • Feature Type
    protein coding gene
  • IDs
    MGI:1298204
    NCBI Gene: 19063
  • Gene Overview
    MyGene.info: PPT1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr4:122836242-122859175 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      22934 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 57.27 cM, cytoband D1-D3
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    PPT1, palmitoyl-protein thioesterase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PPT1, palmitoyl-protein thioesterase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CLN1, INCL, PPT
  • Links
    NCBI Gene ID: 5538
    neXtProt AC: NX_P50897
    UniProt: P50897

  • Chr Location
    1p34.2; chr1:40072710-40097470 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Ppt1 mouse models; 1 with human PPT1 associations

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 3 alleles in 4 genetic backgrounds
    11 phenotypes from multigenic genotypes
    1 images
    48 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      226 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 218
      Genomic 6
      cDNA 210
      Primer pair 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1196214, MGI:1925934, MGI:2140181, MGI:2140662
    References
    more
    • Summaries
      All 85
      Developmental Gene Expression 5
      Diseases 4
      Gene Ontology 18
      Phenotypes 48
    • 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:242242 Segal-Salto M, et al., Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease. Hum Mol Genet. 2017 May 01;26(9):1678

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory