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Details on Person UniProt:Q96FX8 PERP
| Class:Id | ReferenceGeneProduct:242420 |
|---|---|
| _chainChangeLog | chain:1-193 added on Sat February 7 2015 |
| _displayName | UniProt:Q96FX8 PERP |
| _timestamp | 2025-05-21 21:32:17 |
| chain | chain:1-193 |
| checksum | 69654E35C53B3FCE |
| comment | 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).SUBUNIT (Microbial infection) Interacts with S.typhimurium sipA and sctB1/sipC.INTERACTION Associated with desmosomes (By similarity). Colocalizes with KRT14 in the cell membrane (PubMed:31898316). Clusters in a punctate pattern throughout the epithelial cytoplasm, in response to S.typhimurium infection (PubMed:25486861).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).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the TMEM47 family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="17"p53 apoptosis effector related to PMP-22 alternativeName: fullName evidence="14"Keratinocyte-associated protein 1 shortName evidence="14"KCP-1 alternativeName: fullName evidence="15"P53-induced protein PIGPC1 alternativeName: fullName evidence="13"Transmembrane protein THW |
| geneName | PERP KCP1 KRTCAP1 PIGPC1 THW |
| identifier | Q96FX8 |
| isSequenceChanged | FALSE |
| keyword | Apoptosis Cell adhesion Cell junction Cell membrane Cytoplasm Disease variant Membrane Palmoplantar keratoderma Proteomics identification Reference proteome Transmembrane Transmembrane helix |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | PERP |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:6800814] ENSEMBL:ENSG00000112378 PERP [Homo sapiens] |
| secondaryIdentifier | PERP_HUMAN B2RB73 E1P590 Q8IWS3 Q8N1J6 Q8NC16 Q9H1C5 Q9H230 |
| sequenceLength | 193 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:6800837] PERP [plasma membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q96FX8 PERP (242420)
