Perp PERP, TP53 apoptosis effector [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Perpprovided by MGI
Official Full Name: PERP, TP53 apoptosis effectorprovided by MGI
Primary source: MGI:MGI:1929938
See related: Ensembl:ENSMUSG00000019851 AllianceGenome:MGI:1929938
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: THW; KCP1; PIGPC1; KRTCAP1; 1110017A08Rik
Summary: Acts upstream of or within several processes, including amelogenesis; desmosome organization; and intrinsic apoptotic signaling pathway by p53 class mediator. Located in Golgi apparatus and mitochondrion. Is integral component of plasma membrane. Is expressed in several structures, including alimentary system; brain ventricle and choroid plexus; limb primordium; sensory organ; and skin. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. Orthologous to human PERP (p53 apoptosis effector related to PMP22). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in stomach adult (RPKM 379.3), duodenum adult (RPKM 159.3) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 A3; 10 7.97 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (18720819..18732821)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (18845071..18857073)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Confirming the recessive inheritance of PERP-related erythrokeratoderma.
Title: Confirming the recessive inheritance of PERP-related erythrokeratoderma.
Perp deletion promoted Th17 responses and exacerbated the development and severity of experimental autoimmune encephalomyelitis.
Title: Loss of Perp in T Cells Promotes Resistance to Apoptosis of T Helper 17 Cells and Exacerbates the Development of Experimental Autoimmune Encephalomyelitis in Mice.
Perp might play important roles in the formation and integration of stellate reticulum, dental lamina structure and enamel formation
Title: Developmental regulations of Perp in mice molar morphogenesis.
an important role for Perp in normal mammary tissue function and in mammary cancer suppression
Title: Deficiency of the p53/p63 target Perp alters mammary gland homeostasis and promotes cancer.
Data show that PERP is necessary for the integrity of the ameloblast-SI interface and that a lack of Perp causes downregulation of genes that are required for proper enamel formation.
Title: PERP regulates enamel formation via effects on cell-cell adhesion and gene expression.
Studies suggest that Perp-deficiency promotes cancer by enhancing cell survival, desmosome loss, and inflammation, and they highlight a fundamental role for Perp and desmosomes in tumor suppression.
Title: Loss of the p53/p63 regulated desmosomal protein Perp promotes tumorigenesis.
pemphigus vulgaris autoantibodies disrupt Perp expression at the membrane and trigger its internalization along with DSG3 into the endosomal pathway, where it is ultimately targeted to the lysosome for degradation
Title: Loss of the desmosomal protein perp enhances the phenotypic effects of pemphigus vulgaris autoantibodies.
PERP, a p53 proapoptotic target, mediates apoptotic cell death in renal ischemia.
Title: PERP, a p53 proapoptotic target, mediates apoptotic cell death in renal ischemia.
A paper describing the identification of Perp (p53 Apoptosis Effector Related to PMP22). Perp was found as a novel target gene of the p53 tumor suppressor, which is selectively induced during apoptosis compared to cell cycle arrest.
Title: PERP, an apoptosis-associated target of p53, is a novel member of the PMP-22/gas3 family.
Perp's requirement for both viability and epithelial integrity reflects a role in the stratified epithelial compartment.
Title: The requirement for perp in postnatal viability and epithelial integrity reflects an intrinsic role in stratified epithelia.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in anchoring junction	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	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: p53 apoptosis effector related to PMP-22

Names: KCP-1; keratinocyte-associated protein 1; p53 apoptosis effector related to Pmp22; p53 apoptosis-associated target

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.