Seroatlas · Human Serome Atlas

PPT1

Palmitoyl-protein thioesterase 1

Also known as: CLN1, INCL, PPT, PPT1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P50897
Gene
PPT1
Ensembl
ENSG00000131238
Chromosome
1
Canonical length
306 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Golgi apparatus,Vesicles
Secretome location
Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

306 residues, UniProt reviewed canonical sequence.

>P50897|PPT1
     1  MASPGCLWLL AVALLPWTCA SRALQHLDPP APLPLVIWHG MGDSCCNPLS MGAIKKMVEK
    61  KIPGIYVLSL EIGKTLMEDV ENSFFLNVNS QVTTVCQALA KDPKLQQGYN AMGFSQGGQF
   121  LRAVAQRCPS PPMINLISVG GQHQGVFGLP RCPGESSHIC DFIRKTLNAG AYSKVVQERL
   181  VQAEYWHDPI KEDVYRNHSI FLADINQERG INESYKKNLM ALKKFVMVKF LNDSIVDPVD
   241  SEWFGFYRSG QAKETIPLQE TSLYTQDRLG LKEMDNAGQL VFLATEGDHL QLSEEWFYAH
   301  IIPFLG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PPT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
167 nTPM

Expression across tissuesHPA

Tissue

  • spleen: 167 nTPM
  • choroid plexus: 122 nTPM
  • lung: 121 nTPM
  • bone marrow: 111 nTPM
  • cerebral cortex: 95 nTPM
  • basal ganglia: 95 nTPM

Single-cell type

  • kupffer cells: 549 nCPM
  • neutrophils: 313 nCPM
  • cdc: 245 nCPM
  • monocytes: 206 nCPM
  • macrophages: 197 nCPM
  • monocyte progenitors: 173 nCPM

Immune cell

  • total PBMC: 1,584 nTPM
  • classical monocyte: 1,255 nTPM
  • myeloid DC: 1,091 nTPM
  • intermediate monocyte: 1,006 nTPM
  • non-classical monocyte: 819 nTPM
  • neutrophil: 685 nTPM

Brain region

  • white matter: 114 nTPM
  • choroid plexus: 99 nTPM
  • spinal cord: 89 nTPM
  • hypothalamus: 88 nTPM
  • thalamus: 86 nTPM
  • cerebellum: 86 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PPT1.

Disease | AllUniProt

Conditions PPT1 is implicated in, by any mechanism.

  • Ceroid lipofuscinosis, neuronal, 1 (CLN1) MIM:256730

Disease | GeneticClinVar

174 pathogenic / likely-pathogenic of 772 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.89
gnomAD pLI
0
gnomAD missense Z
0.03
DepMap mean gene effect
-0.04
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PPT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PPT1 as an antibody target. Whether an autoantibody or antibody against PPT1 could matter depends on whether native PPT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PPT1 is annotated as secreted, so native PPT1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label PPT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PPT1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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