ID:PERP_HUMAN DESCRIPTION: RecName: Full=p53 apoptosis effector related to PMP-22; AltName: Full=Keratinocyte-associated protein 1; Short=KCP-1; AltName: Full=P53-induced protein PIGPC1; AltName: Full=Transmembrane protein THW; FUNCTION: Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway (By similarity). SUBCELLULAR LOCATION: Cell junction, desmosome. Cell membrane; Multi-pass membrane protein (By similarity). Note=Associated with desmosomes (By similarity). TISSUE SPECIFICITY: Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts. SIMILARITY: Belongs to the TMEM47 family.
longevity Flachsbart F et al. 2010, Investigation of genetic susceptibility factors for human longevity - A targeted nonsynonymous SNP study., Mutation research 694 : 13-9 2010.
[PubMed 20800603]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00822 - PMP-22/EMP/MP20/Claudin family
ModBase Predicted Comparative 3D Structure on Q96FX8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.