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

Gene ID: 5538, updated on 4-Jan-2025

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; AllianceGenome:HGNC:9325
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
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Genomic context

See PPT1 in Genome Data Viewer
Location:
1p34.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (40071461..40097252, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (39940889..39966711, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40537133..40562924, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MFSD2 lysolipid transporter A, lysophospholipid Neighboring gene ribosomal protein S2 pseudogene 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40446045-40446898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 718 Neighboring gene uncharacterized LOC105378669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 824 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40505419-40506052 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40506053-40506687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40518723-40519222 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:40524580-40525341 Neighboring gene cyclase associated actin cytoskeleton regulatory protein 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:40535511-40536710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 720 Neighboring gene Sharpr-MPRA regulatory region 13734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 829 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40598557-40599056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 830 Neighboring gene uncharacterized LOC105378671 Neighboring gene OAZ1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 831 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 721 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:40625521-40625722 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40626731-40627347

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Neuronal ceroid lipofuscinosis 1
MedGen: C1850451 OMIM: 256730 GeneReviews: Not available
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Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Items 1 - 25 of 28
Process Evidence Code Pubs
involved_in adult locomotory behavior  
involved_in associative learning  
involved_in brain development PubMed 
involved_in endocytosis  
involved_in fatty-acyl-CoA biosynthetic process  
involved_in grooming behavior  
involved_in lipid catabolic process PubMed 
involved_in lysosomal lumen acidification PubMed 
involved_in membrane raft organization PubMed 
involved_in negative regulation of apoptotic process PubMed 
involved_in negative regulation of cell growth PubMed 
involved_in negative regulation of neuron apoptotic process PubMed 
involved_in negative regulation of toll-like receptor 9 signaling pathway PubMed 
involved_in nervous system development  
involved_in nervous system development PubMed 
involved_in neuron development PubMed 
involved_in neurotransmitter secretion  
acts_upstream_of_or_within pinocytosis PubMed 
involved_in positive regulation of pinocytosis PubMed 
involved_in positive regulation of receptor-mediated endocytosis PubMed 
involved_in protein catabolic process PubMed 
involved_in protein depalmitoylation PubMed 
involved_in protein depalmitoylation  
involved_in protein transport PubMed 
acts_upstream_of_or_within receptor-mediated endocytosis PubMed 
involved_in regulation of synapse structure or activity PubMed 
involved_in sphingolipid catabolic process PubMed 
involved_in visual perception  
Items 1 - 25 of 28
Items 1 - 20 of 21
Component Evidence Code Pubs
located_in Golgi apparatus PubMed 
located_in axon PubMed 
located_in cytosol  
located_in dendrite  
located_in extracellular exosome PubMed 
is_active_in extracellular region  
located_in extracellular region PubMed 
located_in extracellular region  
located_in intracellular membrane-bounded organelle  
located_in lysosomal lumen  
is_active_in lysosomal membrane PubMed 
is_active_in lysosome  
located_in lysosome PubMed 
located_in lysosome  
located_in membrane PubMed 
located_in membrane raft PubMed 
located_in neuronal cell body  
located_in nucleus PubMed 
located_in presynaptic cytosol  
located_in synaptic vesicle PubMed 
located_in synaptic vesicle membrane  
Items 1 - 20 of 21

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)

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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
    B4DY24, P50897, Q6FGQ4
    UniProtKB/TrEMBL
    A0A2C9F2P4
    Related
    ENSP00000493153.1, ENST00000642050.2
    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
    UniProtKB/TrEMBL
    A0A2C9F2P4, Q5T0S4
    Related
    ENSP00000403207.2, ENST00000439754.6
    Conserved Domains (1) summary
    cl21494
    Location:28281
    Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    39940889..39966711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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