Seroatlas · Human Serome Atlas

PERP

p53 apoptosis effector related to PMP-22

Also known as: dJ496H19.1, KCP1, KRTCAP1, PERP_HUMAN, PIGPC1, THW

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

Protein identityUniProt · HPA

UniProt accession
Q96FX8
Gene
PERP
Ensembl
ENSG00000112378
Chromosome
6
Canonical length
193 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

Involved in positive regulation of neutrophil chemotaxis and positive regulation of proteolysis. Predicted to be located in desmosome and plasma membrane. Predicted to be active in cell-cell junction. Implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

193 residues, UniProt reviewed canonical sequence.

>Q96FX8|PERP
     1  MIRCGLACER CRWILPLLLL SAIAFDIIAL AGRGWLQSSD HGQTSSLWWK CSQEGGGSGS
    61  YEEGCQSLME YAWGRAAAAM LFCGFIILVI CFILSFFALC GPQMLVFLRV IGGLLALAAV
   121  FQIISLVIYP VKYTQTFTLH ANPAVTYIYN WAYGFGWAAT IILIGCAFFF CCLPNYEDDL
   181  LGNAKPRYFY TSA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PERP 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
Cell surface
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
1,079 nTPM

Expression across tissuesHPA

Tissue

  • skin: 1,079 nTPM
  • esophagus: 759 nTPM
  • vagina: 424 nTPM
  • cervix: 310 nTPM
  • salivary gland: 274 nTPM
  • tonsil: 140 nTPM

Single-cell type

  • esophageal apical cells: 18,031 nCPM
  • esophageal suprabasal cells: 9,964 nCPM
  • suprabasal keratinocytes: 6,971 nCPM
  • ocular epithelial cells: 3,889 nCPM
  • esophageal basal cells: 3,682 nCPM
  • basal keratinocytes: 3,219 nCPM

Immune cell

  • basophil: 40 nTPM
  • T-reg: 8.9 nTPM
  • MAIT T-cell: 7.6 nTPM
  • memory CD4 T-cell: 5.4 nTPM
  • gdT-cell: 4.3 nTPM
  • memory CD8 T-cell: 3.8 nTPM

Brain region

  • choroid plexus: 21 nTPM
  • medulla oblongata: 12 nTPM
  • thalamus: 11 nTPM
  • pons: 10 nTPM
  • hypothalamus: 8.8 nTPM
  • midbrain: 8.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PERP.

Disease | AllUniProt

Conditions PERP is implicated in, by any mechanism.

  • Erythrokeratodermia variabilis et progressiva 7 (EKVP7) MIM:619209
  • Olmsted syndrome 2 (OLMS2) MIM:619208

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 32 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Olmsted syndrome 2
  • Erythrokeratodermia variabilis et progressiva 7

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)
0.93
gnomAD pLI
0.08
gnomAD missense Z
0.46
DepMap mean gene effect
-0.13
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

PERP is annotated at the cell surface, where native PERP is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

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

Canonical record: https://seroatlas.com/gene/PERP. 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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