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FLASH GENE

Symbol

PERP

contributors: shn - updated : 05-03-2019

HGNC name	PERP, TP53 apoptosis effector
HGNC id	17637

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022121 3 - 4319 NP_071404 - 193 - - NM_022121 3 - 4319

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive esophagus           mouth tongue     highly   stomach         Reproductive female system uterus cervix       female system breast mammary gland       male system prostate       Respiratory respiratory tract trachea       Urinary bladder       predominantly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four putative transmembrane domains
	two extracellular domains
	three cytoplasmic domains

HOMOLOGY

interspecies	ortholog to Perp, Mus musculus
	ortholog to Perp, Rattus norvegicus
	ortholog to perp, Danio rerio

Homologene

FAMILY

tetraspan membrane protein

CATEGORY

tumor suppressor

SUBCELLULAR LOCALIZATION
text	localizes specifically to desmosomes (

basic FUNCTION	tumor suppressor gene activity
	playing a role in promoting the stable assembly of desmosomal adhesive complexes
	a key effector in the p63 developmental program, playing an essential role in an adhesion subprogram central to epithelial integrity and homeostasis (
	regulates enamel formation and necessary for the integrity of the ameloblast-stratum intermedium interface (
	is a component of the desmosomes, multiprotein complexes involved in cell-to-cell adhesion

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	essential for epithelial integrity

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in the metastating mammary carcinoma and pancreas cell lines

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Perp-/- mice die postnatally, with dramatic blistering in stratified epithelia symptomatic of compromised adhesion (
	Perp-null mice display dramatic enamel defects due to the detachment of ameloblasts from the stratum intermedium (