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PPT1 palmitoyl-protein thioesterase 1 [ Homo sapiens (human) ]

Gene ID: 5538, updated on 18-Aug-2020

Summary

Official Symbol
PPT1provided by HGNC
Official Full Name
palmitoyl-protein thioesterase 1provided by HGNC
Primary source
HGNC:HGNC:9325
See related
Ensembl:ENSG00000131238 MIM:600722
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PPT; CLN1; INCL
Summary
The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
Expression
Ubiquitous expression in spleen (RPKM 86.1), lung (RPKM 62.1) and 25 other tissues See more
Orthologs

Genomic context

See PPT1 in Genome Data Viewer
Location:
1p34.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (40071461..40097252, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40538382..40563142, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene major facilitator superfamily domain containing 2A Neighboring gene ribosomal protein S2 pseudogene 12 Neighboring gene uncharacterized LOC105378669 Neighboring gene cyclase associated actin cytoskeleton regulatory protein 1 Neighboring gene uncharacterized LOC105378671 Neighboring gene OAZ1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lysophosphatidic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
palmitoyl-(protein) hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
palmitoyl-(protein) hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
palmitoyl-(protein) hydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
palmitoyl-(protein) hydrolase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
palmitoyl-(protein) hydrolase activity TAS
Traceable Author Statement
more info
 
palmitoyl-CoA hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
palmitoyl-CoA hydrolase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sulfatide binding IDA
Inferred from Direct Assay
more info
PubMed 
thiolester hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
associative learning IEA
Inferred from Electronic Annotation
more info
 
brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
 
grooming behavior IEA
Inferred from Electronic Annotation
more info
 
lipid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen acidification IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane raft organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nervous system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron development TAS
Traceable Author Statement
more info
PubMed 
neurotransmitter secretion IEA
Inferred from Electronic Annotation
more info
 
pinocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of pinocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of receptor-mediated endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
protein depalmitoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein depalmitoylation IDA
Inferred from Direct Assay
more info
PubMed 
protein depalmitoylation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
receptor-mediated endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor-mediated endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of phospholipase A2 activity IEA
Inferred from Electronic Annotation
more info
 
regulation of synapse structure or activity NAS
Non-traceable Author Statement
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
sphingolipid catabolic process TAS
Traceable Author Statement
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
axon IDA
Inferred from Direct Assay
more info
PubMed 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular region IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
lysosome ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane HDA PubMed 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
palmitoyl-protein thioesterase 1
Names
ceroid-palmitoyl-palmitoyl-protein thioesterase 1
palmitoyl-protein hydrolase 1
NP_000301.1
NP_001136076.1
NP_001350624.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009192.1 RefSeqGene

    Range
    5001..29761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_690

mRNA and Protein(s)

  1. NM_000310.4NP_000301.1  palmitoyl-protein thioesterase 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000301.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL512599, BC008426, DA504318
    Consensus CDS
    CCDS447.1
    UniProtKB/Swiss-Prot
    P50897
    Related
    ENSP00000493153.1, ENST00000642050.1
    Conserved Domains (1) summary
    cl21494
    Location:28305
    Abhydrolase; alpha/beta hydrolases
  2. NM_001142604.2NP_001136076.1  palmitoyl-protein thioesterase 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001136076.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK302232, AL512599, BC008426
    Consensus CDS
    CCDS44119.1
    UniProtKB/Swiss-Prot
    P50897
    Related
    ENSP00000392293.2, ENST00000449045.7
    Conserved Domains (1) summary
    cl21494
    Location:22202
    Abhydrolase; alpha/beta hydrolases
  3. NM_001363695.2NP_001350624.1  palmitoyl-protein thioesterase 1 isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL512599
    Consensus CDS
    CCDS85955.1
    Related
    ENSP00000403207.2, ENST00000439754.6
    Conserved Domains (1) summary
    cl21494
    Location:28281
    Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    40071461..40097252 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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