UniProtKB - Q96FX8 (PERP_HUMAN)
Protein
p53 apoptosis effector related to PMP-22
Gene
PERP
Organism
Homo sapiens (Human)
Status
Functioni
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).By similarity
GO - Biological processi
- activation of cysteine-type endopeptidase activity Source: BHF-UCL
- amelogenesis Source: Ensembl
- cornification Source: Reactome
- desmosome organization Source: GO_Central
- heterotypic cell-cell adhesion Source: Ensembl
- intrinsic apoptotic signaling pathway by p53 class mediator Source: Ensembl
- Notch signaling pathway Source: Ensembl
- positive regulation of proteolysis Source: BHF-UCL
- regulation of apoptotic process Source: Reactome
Keywordsi
Biological process | Apoptosis, Cell adhesion |
Enzyme and pathway databases
Reactomei | R-HSA-6803205 TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain R-HSA-6809371 Formation of the cornified envelope |
SIGNORi | Q96FX8 |
Names & Taxonomyi
Protein namesi | Recommended name: p53 apoptosis effector related to PMP-22Alternative name(s): Keratinocyte-associated protein 1 Short name: KCP-1 P53-induced protein PIGPC1 Transmembrane protein THW |
Gene namesi | Name:PERP Synonyms:KCP1, KRTCAP1, PIGPC1, THW |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17637 PERP |
MIMi | 609301 gene |
neXtProti | NX_Q96FX8 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Multi-pass membrane protein Sequence analysis
Other locations
- desmosome By similarity
Note: Associated with desmosomes.By similarity
Golgi apparatus
- Golgi apparatus Source: Ensembl
Mitochondrion
- mitochondrion Source: Ensembl
Plasma Membrane
- integral component of plasma membrane Source: Ensembl
- plasma membrane Source: Reactome
Other locations
- cell junction Source: GO_Central
- desmosome Source: UniProtKB-SubCell
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 12 – 32 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 79 – 99 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 110 – 130 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 151 – 171 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Cell junction, Cell membrane, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 64065 |
OpenTargetsi | ENSG00000112378 |
Orphaneti | 659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques |
PharmGKBi | PA134944221 |
Miscellaneous databases
Pharosi | Q96FX8 |
Polymorphism and mutation databases
BioMutai | PERP |
DMDMi | 74751865 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000226994 | 1 – 193 | p53 apoptosis effector related to PMP-22Add BLAST | 193 |
Proteomic databases
EPDi | Q96FX8 |
jPOSTi | Q96FX8 |
MassIVEi | Q96FX8 |
MaxQBi | Q96FX8 |
PaxDbi | Q96FX8 |
PeptideAtlasi | Q96FX8 |
PRIDEi | Q96FX8 |
ProteomicsDBi | 76571 |
PTM databases
iPTMneti | Q96FX8 |
SwissPalmi | Q96FX8 |
Expressioni
Tissue specificityi
Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts.1 Publication
Gene expression databases
Bgeei | ENSG00000112378 Expressed in 218 organ(s), highest expression level in zone of skin |
Genevisiblei | Q96FX8 HS |
Organism-specific databases
HPAi | HPA022269 |
Interactioni
Protein-protein interaction databases
BioGridi | 122038, 1 interactor |
IntActi | Q96FX8, 2 interactors |
STRINGi | 9606.ENSP00000397157 |
Family & Domainsi
Sequence similaritiesi
Belongs to the TMEM47 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4671 Eukaryota ENOG4111P5K LUCA |
GeneTreei | ENSGT00530000063484 |
InParanoidi | Q96FX8 |
KOi | K10136 |
OMAi | SHYASMW |
OrthoDBi | 1307601at2759 |
PhylomeDBi | Q96FX8 |
TreeFami | TF312855 |
Family and domain databases
InterProi | View protein in InterPro IPR015664 P53_induced IPR004031 PMP22/EMP/MP20/Claudin |
PANTHERi | PTHR14399 PTHR14399, 1 hit |
Pfami | View protein in Pfam PF00822 PMP22_Claudin, 1 hit |
i Sequence
Sequence statusi: Complete.
Q96FX8-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MIRCGLACER CRWILPLLLL SAIAFDIIAL AGRGWLQSSD HGQTSSLWWK
60 70 80 90 100
CSQEGGGSGS YEEGCQSLME YAWGRAAAAM LFCGFIILVI CFILSFFALC
110 120 130 140 150
GPQMLVFLRV IGGLLALAAV FQIISLVIYP VKYTQTFTLH ANPAVTYIYN
160 170 180 190
WAYGFGWAAT IILIGCAFFF CCLPNYEDDL LGNAKPRYFY TSA
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 4 – 7 | Missing in BAC05205 (PubMed:14702039).Curated | 4 | |
Sequence conflicti | 178 | D → E in BAC11390 (PubMed:16303743).Curated | 1 | |
Sequence conflicti | 193 | A → G in AAO13162 (PubMed:12752121).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052341 | 143 | P → R2 PublicationsCorresponds to variant dbSNP:rs648802Ensembl. | 1 | |
Natural variantiVAR_070891 | 174 | P → L2 PublicationsCorresponds to variant dbSNP:rs75183345Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ251830 mRNA Translation: CAC17766.1 AY157578 mRNA Translation: AAO13162.1 AF317550 mRNA Translation: AAG35063.1 AK097958 mRNA Translation: BAC05205.1 AK074585 mRNA Translation: BAC11074.1 AK075082 mRNA Translation: BAC11390.1 AK314526 mRNA Translation: BAG37120.1 AL355362 Genomic DNA No translation available. AL023582 Genomic DNA No translation available. CH471051 Genomic DNA Translation: EAW47920.1 CH471051 Genomic DNA Translation: EAW47921.1 BC010163 mRNA Translation: AAH10163.1 |
CCDSi | CCDS5188.1 |
RefSeqi | NP_071404.2, NM_022121.4 |
Genome annotation databases
Ensembli | ENST00000421351; ENSP00000397157; ENSG00000112378 |
GeneIDi | 64065 |
KEGGi | hsa:64065 |
UCSCi | uc003qht.3 human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ251830 mRNA Translation: CAC17766.1 AY157578 mRNA Translation: AAO13162.1 AF317550 mRNA Translation: AAG35063.1 AK097958 mRNA Translation: BAC05205.1 AK074585 mRNA Translation: BAC11074.1 AK075082 mRNA Translation: BAC11390.1 AK314526 mRNA Translation: BAG37120.1 AL355362 Genomic DNA No translation available. AL023582 Genomic DNA No translation available. CH471051 Genomic DNA Translation: EAW47920.1 CH471051 Genomic DNA Translation: EAW47921.1 BC010163 mRNA Translation: AAH10163.1 |
CCDSi | CCDS5188.1 |
RefSeqi | NP_071404.2, NM_022121.4 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGridi | 122038, 1 interactor |
IntActi | Q96FX8, 2 interactors |
STRINGi | 9606.ENSP00000397157 |
PTM databases
iPTMneti | Q96FX8 |
SwissPalmi | Q96FX8 |
Polymorphism and mutation databases
BioMutai | PERP |
DMDMi | 74751865 |
Proteomic databases
EPDi | Q96FX8 |
jPOSTi | Q96FX8 |
MassIVEi | Q96FX8 |
MaxQBi | Q96FX8 |
PaxDbi | Q96FX8 |
PeptideAtlasi | Q96FX8 |
PRIDEi | Q96FX8 |
ProteomicsDBi | 76571 |
Protocols and materials databases
DNASUi | 64065 |
Genome annotation databases
Ensembli | ENST00000421351; ENSP00000397157; ENSG00000112378 |
GeneIDi | 64065 |
KEGGi | hsa:64065 |
UCSCi | uc003qht.3 human |
Organism-specific databases
CTDi | 64065 |
DisGeNETi | 64065 |
GeneCardsi | PERP |
HGNCi | HGNC:17637 PERP |
HPAi | HPA022269 |
MIMi | 609301 gene |
neXtProti | NX_Q96FX8 |
OpenTargetsi | ENSG00000112378 |
Orphaneti | 659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques |
PharmGKBi | PA134944221 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4671 Eukaryota ENOG4111P5K LUCA |
GeneTreei | ENSGT00530000063484 |
InParanoidi | Q96FX8 |
KOi | K10136 |
OMAi | SHYASMW |
OrthoDBi | 1307601at2759 |
PhylomeDBi | Q96FX8 |
TreeFami | TF312855 |
Enzyme and pathway databases
Reactomei | R-HSA-6803205 TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain R-HSA-6809371 Formation of the cornified envelope |
SIGNORi | Q96FX8 |
Miscellaneous databases
ChiTaRSi | PERP human |
GeneWikii | PERP |
GenomeRNAii | 64065 |
Pharosi | Q96FX8 |
PROi | PR:Q96FX8 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000112378 Expressed in 218 organ(s), highest expression level in zone of skin |
Genevisiblei | Q96FX8 HS |
Family and domain databases
InterProi | View protein in InterPro IPR015664 P53_induced IPR004031 PMP22/EMP/MP20/Claudin |
PANTHERi | PTHR14399 PTHR14399, 1 hit |
Pfami | View protein in Pfam PF00822 PMP22_Claudin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PERP_HUMAN | |
Accessioni | Q96FX8Primary (citable) accession number: Q96FX8 Secondary accession number(s): B2RB73 Q9H230 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 7, 2006 |
Last sequence update: | December 1, 2001 | |
Last modified: | October 16, 2019 | |
This is version 135 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot