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
- cell-cell adhesion Source: GO_Central
- cornification Source: Reactome
- desmosome organization Source: Ensembl
- 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
PathwayCommonsi | Q96FX8 |
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 |
VEuPathDBi | HostDB:ENSG00000112378.11 |
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-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 |
MalaCardsi | PERP |
OpenTargetsi | ENSG00000112378 |
Orphaneti | 659, Mutilating palmoplantar keratoderma with periorificial keratotic plaques |
PharmGKBi | PA134944221 |
Miscellaneous databases
Pharosi | Q96FX8, Tbio |
Genetic variation 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 zone of skin and 225 other tissues |
Genevisiblei | Q96FX8, HS |
Organism-specific databases
HPAi | ENSG00000112378, Tissue enhanced (esophagus, skin, tongue) |
Interactioni
Binary interactionsi
Hide detailsQ96FX8
Protein-protein interaction databases
BioGRIDi | 122038, 3 interactors |
IntActi | Q96FX8, 8 interactors |
STRINGi | 9606.ENSP00000397157 |
Miscellaneous databases
RNActi | Q96FX8, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the TMEM47 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG4671, Eukaryota |
GeneTreei | ENSGT00530000063484 |
HOGENOMi | CLU_120054_0_0_1 |
InParanoidi | Q96FX8 |
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 |
Similar 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, 3 interactors |
IntActi | Q96FX8, 8 interactors |
STRINGi | 9606.ENSP00000397157 |
PTM databases
iPTMneti | Q96FX8 |
SwissPalmi | Q96FX8 |
Genetic variation 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
ABCDi | Q96FX8, 15 sequenced antibodies |
Antibodypediai | 19785, 223 antibodies |
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 | ENSG00000112378, Tissue enhanced (esophagus, skin, tongue) |
MalaCardsi | PERP |
MIMi | 609301, gene |
neXtProti | NX_Q96FX8 |
OpenTargetsi | ENSG00000112378 |
Orphaneti | 659, Mutilating palmoplantar keratoderma with periorificial keratotic plaques |
PharmGKBi | PA134944221 |
VEuPathDBi | HostDB:ENSG00000112378.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4671, Eukaryota |
GeneTreei | ENSGT00530000063484 |
HOGENOMi | CLU_120054_0_0_1 |
InParanoidi | Q96FX8 |
OMAi | SHYASMW |
OrthoDBi | 1307601at2759 |
PhylomeDBi | Q96FX8 |
TreeFami | TF312855 |
Enzyme and pathway databases
PathwayCommonsi | Q96FX8 |
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
BioGRID-ORCSi | 64065, 33 hits in 876 CRISPR screens |
ChiTaRSi | PERP, human |
GeneWikii | PERP |
GenomeRNAii | 64065 |
Pharosi | Q96FX8, Tbio |
PROi | PR:Q96FX8 |
RNActi | Q96FX8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000112378, Expressed in zone of skin and 225 other tissues |
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: | February 10, 2021 | |
This is version 143 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
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants