Recombinant Human p53 apoptosis effector related to PMP-22 (PERP) Protein

Function

Component of intercellular desmosome junctions (By similarity). Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly (By similarity). Thereby plays a role in barrier function of the skin against infection (By similarity). Plays a role in mammary epithelial tissue homeostasis and remodeling during and after pregnancy, potentially via its involvement in desmosome cell-cell junctions (By similarity). Required for tooth enamel development via facilitating desmosome-mediated ameloblast adhesion to the stratum intermedium during the transitional stage of amelogenesis (By similarity). May also play a role in downstream transcriptional regulation of other genes involved in amelogenesis such as AMBN, ENAM, MMP20 and KLK4 (By similarity). Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity). Positively regulates apoptosis in T-helper 17 (Th17) cell populations via caspase-dependent signaling (By similarity). Promotes neutrophil transepithelial migration in response to chemoattractants such as hepoxilin A3 (HXA3), N-Formylmethionyl-leucyl-phenylalanine (fMLP) and CXCL8/IL-8 (PubMed:25486861). Required for neutrophil transepithelial migration in response to S.typhimurium infection (PubMed:25486861). May act as a positive regulator of endothelial cell apoptosis in response to blood flow-derived shear stress (By similarity)

Subcellular Location

Cell junction, desmosome; Cell membrane (Multi-pass membrane protein); Cytoplasm

Disease Association

Erythrokeratodermia variabilis et progressiva 7 (EKVP7) : A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. EKVP7 is an autosomal recessive form characterized by palmoplantar keratoderma that extends to the dorsal surface of the hands and feet, as well as erythematous annular skin lesions. Pruritus, woolly hair, and dystrophic nails may also be present. [The disease is caused by variants affecting the gene represented in this entry] | Olmsted syndrome 2 (OLMS2) : A form of Olmsted syndrome, a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. OLMS2 is an autosomal dominant form with onset in the first months of life or in early childhood. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts. May translocate to the intestinal apical epithelial cell surface via sipA and sctB1/sipC-promoted exocytic translocation following infection by S. Typhimurium (PubMed:25486861, PubMed:27078059)

Subunit

(Microbial infection) Interacts with S.typhimurium sipA and sctB1/sipC

• Hildebrandt T. et al. Identification of THW, a putative new tumor suppressor gene. — Anticancer Res. (2000)
• Bonkobara M. et al. Identification of novel genes for secreted and membrane-anchored proteins in human keratinocytes. — Br. J. Dermatol. (2003)
• Goltsov A.A. et al. p53 regulates the expression of a novel four transmembrane protein -- PERP/PIGPC1 in mouse and human prostate cancer. (OCT-)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Otsuki T. et al. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. — DNA Res. (2005)
• Mungall A.J. et al. The DNA sequence and analysis of human chromosome 6. — Nature (2003)
• Mural R.J. et al. PubMed: CI-5GBD0VIIJ7C63 (SEP-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)