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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:122730035-122752968 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 57.27 cM, cytoband D1-D3
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    700 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1298204
 protein coding gene Chr4:122729879-122752968 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028727
 protein coding gene Chr4:124215584-124239651 (+)
A/J MGP_AJ_G0028686
 protein coding gene Chr4:119372041-119395151 (+)
AKR/J MGP_AKRJ_G0028640
 protein coding gene Chr4:122590212-122614758 (+)
BALB/cJ MGP_BALBcJ_G0028709
 protein coding gene Chr4:119951924-119974852 (+)
C3H/HeJ MGP_C3HHeJ_G0028424
 protein coding gene Chr4:122716819-122739821 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029151
 protein coding gene Chr4:129010778-129041629 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026424
 protein coding gene Chr4:112617710-112640850 (+)
CAST/EiJ MGP_CASTEiJ_G0027856
 protein coding gene Chr4:120708614-120731211 (+)
CBA/J MGP_CBAJ_G0028391
 protein coding gene Chr4:132299039-132321975 (+)
DBA/2J MGP_DBA2J_G0028538
 protein coding gene Chr4:119890795-119913706 (+)
FVB/NJ MGP_FVBNJ_G0028505
 protein coding gene Chr4:118497850-118520686 (+)
LP/J MGP_LPJ_G0028639
 protein coding gene Chr4:124494380-124517275 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028533
 protein coding gene Chr4:137253229-137276085 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029188
 protein coding gene Chr4:122958056-122981426 (+)
PWK/PhJ MGP_PWKPhJ_G0027578
 protein coding gene Chr4:116271725-116294988 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027404
 protein coding gene Chr4:118787460-118811897 (+)
WSB/EiJ MGP_WSBEiJ_G0027936
 protein coding gene Chr4:123048364-123083913 (+)



Homology
more
  • Human Ortholog
    PPT1, palmitoyl-protein thioesterase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PPT1, palmitoyl-protein thioesterase 1
  • Synonyms
    CLN1, INCL, PPT
  • Links
    NCBI Gene ID: 5538
    neXtProt AC: NX_P50897
    UniProt: P50897

  • Chr Location
    1p34.2; chr1:40071461-40097260 (-)  GRCh38
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
less
  • Phenotype Summary
    50 phenotypes from 3 alleles in 4 genetic backgrounds
    11 phenotypes from multigenic genotypes
    1 images
    76 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 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. Retinal degeneration phenotypes are oberserved in mice homozygous for a null allele.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    86
  • GO References
    20
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    996
  • Tissues
    105
  • cDNA Data
    213
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028657 Ensembl Gene Model | MGI Sequence Detail 22934 C57BL/6J ±  kb
    transcript ENSMUST00000030412 Ensembl | MGI Sequence Detail 2381 Not Applicable  
    polypeptide ENSMUSP00000030412 Ensembl | MGI Sequence Detail 306 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 222
      Genomic 6
      cDNA 214
      Primer pair 2

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1196214, MGI:1925934, MGI:2140181, MGI:2140662
    References
    more
    • Summaries
      All 115
      Developmental Gene Expression 7
      Diseases 4
      Gene Ontology 20
      Phenotypes 76
    • 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:350098 Bagh MB, et al., Disruption of lysosomal nutrient sensing scaffold contributes to pathogenesis of a fatal neurodegenerative lysosomal storage disease. J Biol Chem. 2024 Jan 9;300(2):105641
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory