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Details on Person UniProt:Q9JK95 Perp
| Class:Id | ReferenceGeneProduct:242422 |
|---|---|
| _chainChangeLog | chain:1-193 added on Fri February 6 2015 |
| _displayName | UniProt:Q9JK95 Perp |
| _timestamp | 2025-05-21 21:32:17 |
| chain | chain:1-193 |
| checksum | B1DD8A2AAC27A0AB |
| comment | FUNCTION Component of intercellular desmosome junctions (PubMed:15797384). Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly (PubMed:15797384, PubMed:16485031). Thereby plays a role in barrier function of the skin against infection (PubMed:16485031). Plays a role in mammary epithelial tissue homeostasis and remodeling during and after pregnancy, potentially via its involvement in desmosome cell-cell junctions (PubMed:22515648). Required for tooth enamel development via facilitating desmosome-mediated ameloblast adhesion to the stratum intermedium during the transitional stage of amelogenesis (PubMed:21285247). May also play a role in downstream transcriptional regulation of other genes involved in amelogenesis such as AMBN, ENAM, MMP20 and KLK4 (PubMed:21285247). Plays a role as an effector in the TP53-dependent apoptotic pathway (PubMed:10733530). Positively regulates apoptosis in T-helper 17 (Th17) cell populations via caspase-dependent signaling (PubMed:29740445). Promotes neutrophil transepithelial migration in response to chemoattractants such as hepoxilin A3 (HXA3), N-Formylmethionyl-leucyl-phenylalanine (fMLP) and CXCL8/IL-8 (By similarity). May act as a positive regulator of endothelial cell apoptosis in response to blood flow-derived shear stress (By similarity).SUBCELLULAR LOCATION Associated with desmosomes (PubMed:15797384). May translocate to the intestinal apical epithelial cell surface via sipA and sctB1/sipC-promoted exocytic translocation following infection by S. Typhimurium (By similarity).TISSUE SPECIFICITY Expressed in the stratified squamous skin epithelium of the skin and the tongue, but not in simple epithelia (at protein level) (PubMed:15797384). Expressed in the oral epithelium, tongue epithelium and skin (at protein level) (PubMed:21285247). More abundant in areas of lower flow stress in the inner curvature compared to the outer curvature regions of the aorta (at protein level) (PubMed:27834691). Expressed in luminal cells and myoepithelium cells of the mammary epithelium (at protein level) (PubMed:22515648). Expression increases during the early stages of pregnancy before decreasing before birth, expression continues to be weak during involution which mirrors decreased desmosome abundance and organization at these time points (at protein level) (PubMed:22515648). Expressed by epithelial cells at the mucosal surface in the proximal colon (at protein level) (PubMed:25486861). Expressed in apoptotic cells (PubMed:10733530).DEVELOPMENTAL STAGE Expressed in developing skin during and after the stratification process from 9.5 to 15.5 dpc (at protein level) (PubMed:15797384). Expressed in the enamel organ at 14.5 dpc, then expressed in the enamel organ-derived such as the tissues stratum intermedium, stellate reticulum and the inner enamel epithelium at 16.5 dpc (at protein level) (PubMed:21285247). Expressed at the ameloblast-stratum intermedium interface as well as in the stratum intermedium itself at all stages of amelogenesis at postnatal day 7 (P7) (at protein level) (PubMed:21285247). Expressed in ectoderm of the developing branchial arches and limb buds from 9.5 to 10.5 dpc (PubMed:15797384). Expressed in epithelia of the oral mucosa and skin from the 16.5 to 18.5 dpc (PubMed:15797384).INDUCTION Up-regulated by UV irradiation, doxorubicin (DOX) and Tp53 in embryonic fibroblasts.DISRUPTION PHENOTYPE Knockout mice exhibit postnatal lethality and defects in stratified epithelia (PubMed:15797384). Decrease in expression of Dmkn, Krt83, Sost, Lama2 and the amelogenesis pathway proteins Ambn, Enam, Mmp20 and Klk4 in first lower molars at birth (PubMed:21285247). Upper and lower first molars show defective enamel formation and architectural abnormalities suggesting impairment of enamel matrix secretion and mineralization at postnatal day 2 (P2) (PubMed:21285247). Detachment of ameloblasts from the stratum intermedium surface resulting in ectopic localization between the ameloblast layer and the enamel matrix initially present at P2 remaining significant at the transitional stage of amelogenesis at P7 (PubMed:21285247). Reduced number of desmosome junctions along the ameloblast and stratum intermedium interface that abnormally show decreased electron density and reduced size at P2 (PubMed:21285247). Enamel defects are first noticeable in the lower incisors at P3, shown as a decreased enamel matrix density near the dentine surface-enamel junction (PubMed:21285247). Thinner dentin matrix and smaller teeth at P7 (PubMed:21285247). Lower incisors and first upper molars show irregular enamel matrix with a range of dense and clear regions suggesting a deficiency in matrix proteins or matrix resorption at P7 (PubMed:21285247). 5% of mice survive until adulthood on a mixed strain background (129/Sv;C57BL/6), they show a significantly decreased lifespan of 18 months, decreased weight, inflamed skin, disheveled fur and swollen feet and toes with blunted or broken nails (PubMed:16485031). Abnormally thick dorsal skin suggesting a hyperproliferative phenotype with additional infiltrating immune cells and tissue inflammation (PubMed:16485031). Abnormal plantar skin with extensive thickening of all the epidermal layers or hyperkeratosis with splitting between the cells. Many showed pododermatitis and a few showed severe bacterial infections in the jaw, ear or spinal cord (PubMed:16485031). There are gross abnormalities in the nails and hair, with a third of mice showing significant abnormalities in the architecture of the squamous epithelium with others showing disorganized basal layers with multiple small 'nailettes' developing rather than a coherent stratified structure and a loss of visible nail plate in some mice (PubMed:16485031). Mammary gland transplants show generally normal development of mammary gland morphology during and after pregnancy, however there is an increase in the number of abnormal foci identified as lymphocytic aggregates, particularly at bifurcation points of branching ducts (PubMed:22515648). Reduces abundance of desmosome proteins Dsp/Dp, Dsg1, Dsg2 and Dsc2 in mammary epithelial cells (PubMed:22515648).MISCELLANEOUS May play a protective role in an experimental model of autoimmune encephalomyelitis that has similarities to human multiple sclerosis (PubMed:29740445). Perp is protective against demyelination, inflammatory infiltrates in the spinal cord tissues and increased levels of pro-inflammatory markers Tnf, Il6 and Il17a in the brain (PubMed:29740445). This is reflected in protection from early onset and decreased severity of experimental autoimmune encephalomyelitis (PubMed:29740445).SIMILARITY Belongs to the TMEM47 family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: fullName evidence="2"p53 apoptosis effector related to PMP-22 alternativeName: fullName evidence="2"Keratinocyte-associated protein 1 shortName evidence="2"KCP-1 |
| geneName | Perp Krtcap1 |
| identifier | Q9JK95 |
| isSequenceChanged | FALSE |
| keyword | Apoptosis Cell adhesion Cell junction Cell membrane Cytoplasm Membrane Reference proteome Transmembrane Transmembrane helix |
| modified | [InstanceEdit:354386] Schmidt, EE, 2008-06-18 04:45:12 [InstanceEdit:384350] Kanapin, AA, 2008-11-26 14:00:39 [InstanceEdit:392885] Kanapin, AA, 2009-03-09 12:07:18 [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35 [InstanceEdit:423310] Kanapin, AA [InstanceEdit:435478] Kanapin, AA [InstanceEdit:435871] Kanapin, AA [InstanceEdit:447347] Kanapin, AA [InstanceEdit:525883] Kanapin, AA [InstanceEdit:613449] Kanapin, AA [InstanceEdit:797602] Kanapin, AA [InstanceEdit:937368] Yung, CK [InstanceEdit:1042053] Yung, CK [InstanceEdit:1220657] Yung, CK [InstanceEdit:1300696] Yung, CK [InstanceEdit:1301627] Yung, CK [InstanceEdit:1551960] Weiser, JD [InstanceEdit:1995863] Weiser, JD [InstanceEdit:2132304] Weiser, JD [InstanceEdit:2265580] Weiser, JD [InstanceEdit:5433710] Weiser, JD [InstanceEdit:5618415] Weiser, JD [InstanceEdit:5634237] Weiser, JD [InstanceEdit:5673015] Weiser, JD [InstanceEdit:9037114] Weiser, JD [InstanceEdit:9637257] Weiser, JD [InstanceEdit:9676415] Weiser, JD [InstanceEdit:9773244] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | Perp |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| secondaryIdentifier | PERP_MOUSE Q9JI77 |
| sequenceLength | 193 |
| species | [Species:48892] Mus musculus |
| (referenceEntity) | [EntityWithAccessionedSequence:6800810] Perp [plasma membrane] [Mus musculus] |
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No pathways have been reviewed or authored by UniProt:Q9JK95 Perp (242422)
