PERP p53 apoptosis effector related to PMP22 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PERPprovided by HGNC
Official Full Name: p53 apoptosis effector related to PMP22provided by HGNC
Primary source: HGNC:HGNC:17637
See related: Ensembl:ENSG00000112378 MIM:609301; AllianceGenome:HGNC:17637
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: THW; KCP1; EKVP7; OLMS2; PIGPC1; KRTCAP1; dJ496H19.1
Summary: Involved in activation of cysteine-type endopeptidase activity and positive regulation of neutrophil chemotaxis. 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, Dec 2024]
Expression: Biased expression in skin (RPKM 558.0), esophagus (RPKM 335.7) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q23.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (138088505..138107419, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (139276972..139295905, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (138409642..138428556, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.
Title: Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.
Pilot study of loss of the p53/p63 target gene PERP at the surgical margin as a potential predictor of local relapse in head and neck squamous cell carcinoma.
Title: Pilot study of loss of the p53/p63 target gene PERP at the surgical margin as a potential predictor of local relapse in head and neck squamous cell carcinoma.
Confirming the recessive inheritance of PERP-related erythrokeratoderma.
Title: Confirming the recessive inheritance of PERP-related erythrokeratoderma.
Upregulation of METTL14 mediates the elevation of PERP mRNA N(6) adenosine methylation promoting the growth and metastasis of pancreatic cancer.
Title: Upregulation of METTL14 mediates the elevation of PERP mRNA N(6) adenosine methylation promoting the growth and metastasis of pancreatic cancer.
MiR-629 regulates hypoxic pulmonary vascular remodelling by targeting FOXO3 and PERP.
Title: MiR-629 regulates hypoxic pulmonary vascular remodelling by targeting FOXO3 and PERP.
increased level of IL 17 and decreased level of PERP may constitute two major factors in the pathogenesis and activity of rheumatoid arthritis
Title: Correlation between Relative Expression of IL 17 and PERP in Rheumatoid Arthritis Patients and Disease Activity.
Study shows that mutations in PERP, encoding a crucial component of desmosomes, cause both dominant and recessive human keratoderma. Heterozygosity for a C-terminal truncation, which produces a protein that appears to be unstably incorporated into desmosomes, causes Olmsted syndrome with severe periorificial and palmoplantar keratoderma in multiple unrelated kindreds.
Title: Mutations in PERP Cause Dominant and Recessive Keratoderma.
Downregulation of desmosomal formation transcripts including PERP may contribute to the aggressive phenotype seen in sparsely granulated GH pituitary tumors and their behavior in response to surgery and medical therapy.
Title: Elucidating the Role of the Desmosome Protein p53 Apoptosis Effector Related to PMP-22 in Growth Hormone Tumors.
Expression of p63-tGFP induces apoptosis with marked increase in PERP expression and associated p53 accumulation. Lack of p63 contributes to reduced PERP levels and impaired p53-mediated apoptosis in UM.
Title: p63 is required beside p53 for PERP-mediated apoptosis in uveal melanoma.
Salmonella Typhimurium type III secreted effector SipC significantly contributes to PERP redistribution to the apical membrane surface.
Title: The type three secreted effector SipC regulates the trafficking of PERP during Salmonella infection.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Erythrokeratodermia variabilis et progressiva 7 MedGen: C5543106 OMIM: 619209 GeneReviews: Not available	not available
Olmsted syndrome 2 MedGen: C5543096 OMIM: 619208 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of TP53 apoptosis effector (PERP) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif upregulates the expression of TP53 apoptosis effector (PERP) in Vif-expression T cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36130 (e-PCR)
- UniSTS:79211

WI-18594 (e-PCR)
- UniSTS:77447

D6S1587 (e-PCR), detects polymorphism
- UniSTS:81809

PERP__5667 (e-PCR)
- UniSTS:463792

RH46733 (e-PCR)
- UniSTS:19197

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in activation of cysteine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in amelogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in desmosome organization	IEA Inferred from Electronic Annotation more info
involved_in heterotypic cell-cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	IEA Inferred from Electronic Annotation more info
involved_in mammary gland duct morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neutrophil chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in tissue homeostasis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in cell-cell junction	IBA Inferred from Biological aspect of Ancestor more info
located_in desmosome	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: p53 apoptosis effector related to PMP-22

Names: 1110017A08Rik; KCP-1; PERP, TP53 apoptosis effector; keratinocyte-associated protein 1; keratinocytes associated protein 1; p53-induced protein PIGPC1; transmembrane protein THW

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.