PERP - p53 apoptosis effector related to PMP22 Gene

Also Known as THW; KCP1; EKVP7; OLMS2; PIGPC1; KRTCAP1; dJ496H19.1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64065

About PERP

Cytogenetic location: 6q23.3 Genomic coordinates (GRCh38): 6:138,088,505-138,107,419 (from NCBI)

This gene has 1 transcript (splice variant), 235 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in skin (RPKM 558.0), esophagus (RPKM 335.7) and 6 other tissues.

Summary

Involved in activation of cysteine-type endopeptidase activity. Predicted to be located in 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, Apr 2022]

PERP Products (1)

mRNA Protein Name
NM_022121.5 NP_071404.2 p53 apoptosis effector related to PMP-22

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
25486861 GOA
Biological Process GO Annotation Evidence References Source
involved in activation of cysteine-type endopeptidase activity IDA
IDA: Inferred from direct assay
18387192 GOA
involved in positive regulation of neutrophil chemotaxis IMP
IMP: Inferred from mutant phenotype
25486861 GOA
involved in positive regulation of proteolysis IDA
IDA: Inferred from direct assay
18387192 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PERP Protein Structure

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (25 - 163)

  • 0
  • 100
  • 193 a.a.
Protein Preferred Names Protein Names

p53 apoptosis effector related to PMP-22

  • 1110017A08Rik

PERP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PERP Q96FX8 JPH3 Homo sapiens Q8WXH2
Y2H Pooling
32814053
Intra
PERP Q96FX8 JPH3 Homo sapiens Q8WXH2
Validated Y2H
32814053
Intra
PERP Q96FX8 JPH3 Homo sapiens Q8WXH2
Y2H Array
32814053
Intra
PERP Q96FX8 KIF1B Homo sapiens O60333-2
Validated Y2H
32814053
Intra
PERP Q96FX8 KIF1B Homo sapiens O60333-2
Y2H Array
32814053
Intra
PERP Q96FX8 KIF1B Homo sapiens O60333-2
Y2H Pooling
32814053
Intra
PERP Q96FX8 ABHD16A Homo sapiens O95870
Y2H Array
32296183
Intra
PERP Q96FX8 ABHD16A Homo sapiens O95870
Y2H Prey Pooling
32296183
Intra
PERP Q96FX8 HSPB1 Homo sapiens P04792
Validated Y2H
32814053
Intra
PERP Q96FX8 HSPB1 Homo sapiens P04792
Y2H Array
32814053
Intra
PERP Q96FX8 HSPB1 Homo sapiens P04792
Y2H Pooling
32814053
Intra
PERP Q96FX8 WFS1 Homo sapiens O76024
Validated Y2H
32814053
Intra
PERP Q96FX8 WFS1 Homo sapiens O76024
Y2H Array
32814053
Intra
PERP Q96FX8 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
Intra
PERP Q96FX8 GFAP Homo sapiens P14136
Validated Y2H
32814053
Intra
PERP Q96FX8 GFAP Homo sapiens P14136
Y2H Array
32814053
Intra
PERP Q96FX8 GFAP Homo sapiens P14136
Y2H Pooling
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

PERP Antibodies

Cat. No. Product Name Application Reactivity
HY-P81929 PERP Antibody (YA1674) WB, ICC/IF Human, Mouse, Rat

Related Diseases

Diseases Alias
Erythrokeratodermia Variabilis Et Progressiva 7

  • EKVP7
Olmsted Syndrome 2

  • OLMS2

  • Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques 2

  • Ppkm2
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

  • Olmsted Syndrome

  • Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

  • Palmoplantar And Periorificial Keratoderma

  • Olms
Alopecia
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

  • Hay-Wells Syndrome

  • Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome

  • Aec Syndrome

  • AEC

  • Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome

  • Seres-Santamaria Arimany Muniz Syndrome

  • Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects

  • Ankyloblepharon Ectodermal Defects Cleft Lip/Palate

  • Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate

  • Rapp-Hodgkin Syndrome
Ichthyosis

  • Ichthyoses

  • Non-Syndromic Ichthyosis

  • Congenital Ichthyosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10335 PERP Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18632 Perp Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25118 Perp Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus PERP MGD MGI:1929938
Canis familiaris PERP VGNC VGNC:44424
Macaca mulatta PERP VGNC VGNC:75818
Felis catus PERP VGNC VGNC:64113
Rattus norvegicus PERP RGD RGD:1310294
Others PERP NCBI