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Protein

p53 apoptosis effector related to PMP-22

Gene

PERP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

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

Keywordsi

Biological processApoptosis, Cell adhesion

Enzyme and pathway databases

ReactomeiR-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
SIGNORiQ96FX8

Names & Taxonomyi

Protein namesi
Recommended name:
p53 apoptosis effector related to PMP-22
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112378.11
HGNCiHGNC:17637 PERP
MIMi609301 gene
neXtProtiNX_Q96FX8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei12 – 32HelicalSequence analysisAdd BLAST21
Transmembranei79 – 99HelicalSequence analysisAdd BLAST21
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Transmembranei151 – 171HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi64065
OpenTargetsiENSG00000112378
PharmGKBiPA134944221

Polymorphism and mutation databases

BioMutaiPERP
DMDMi74751865

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002269941 – 193p53 apoptosis effector related to PMP-22Add BLAST193

Proteomic databases

EPDiQ96FX8
MaxQBiQ96FX8
PaxDbiQ96FX8
PeptideAtlasiQ96FX8
PRIDEiQ96FX8
ProteomicsDBi76571

PTM databases

iPTMnetiQ96FX8
SwissPalmiQ96FX8

Expressioni

Tissue specificityi

Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts.1 Publication

Gene expression databases

BgeeiENSG00000112378 Expressed in 218 organ(s), highest expression level in zone of skin
CleanExiHS_PERP
GenevisibleiQ96FX8 HS

Organism-specific databases

HPAiHPA022269

Interactioni

Protein-protein interaction databases

BioGridi122038, 1 interactor
IntActiQ96FX8, 2 interactors
STRINGi9606.ENSP00000397157

Structurei

3D structure databases

ProteinModelPortaliQ96FX8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM47 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4671 Eukaryota
ENOG4111P5K LUCA
GeneTreeiENSGT00530000063484
HOVERGENiHBG061500
InParanoidiQ96FX8
KOiK10136
OMAiTWAYGFG
OrthoDBiEOG091G0S9P
PhylomeDBiQ96FX8
TreeFamiTF312855

Family and domain databases

InterProiView protein in InterPro
IPR015664 P53_induced
IPR004031 PMP22/EMP/MP20/Claudin
PANTHERiPTHR14399 PTHR14399, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit

Sequencei

Sequence statusi: Complete.

Q96FX8-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:193
Mass (Da):21,386
Last modified:December 1, 2001 - v1
Checksum:i69654E35C53B3FCE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti4 – 7Missing in BAC05205 (PubMed:14702039).Curated4
Sequence conflicti178D → E in BAC11390 (PubMed:16303743).Curated1
Sequence conflicti193A → G in AAO13162 (PubMed:12752121).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052341143P → R2 PublicationsCorresponds to variant dbSNP:rs648802Ensembl.1
Natural variantiVAR_070891174P → 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
CCDSiCCDS5188.1
RefSeqiNP_071404.2, NM_022121.4
UniGeneiHs.201446

Genome annotation databases

EnsembliENST00000421351; ENSP00000397157; ENSG00000112378
GeneIDi64065
KEGGihsa:64065
UCSCiuc003qht.3 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS5188.1
RefSeqiNP_071404.2, NM_022121.4
UniGeneiHs.201446

3D structure databases

ProteinModelPortaliQ96FX8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122038, 1 interactor
IntActiQ96FX8, 2 interactors
STRINGi9606.ENSP00000397157

PTM databases

iPTMnetiQ96FX8
SwissPalmiQ96FX8

Polymorphism and mutation databases

BioMutaiPERP
DMDMi74751865

Proteomic databases

EPDiQ96FX8
MaxQBiQ96FX8
PaxDbiQ96FX8
PeptideAtlasiQ96FX8
PRIDEiQ96FX8
ProteomicsDBi76571

Protocols and materials databases

DNASUi64065
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000421351; ENSP00000397157; ENSG00000112378
GeneIDi64065
KEGGihsa:64065
UCSCiuc003qht.3 human

Organism-specific databases

CTDi64065
DisGeNETi64065
EuPathDBiHostDB:ENSG00000112378.11
GeneCardsiPERP
H-InvDBiHIX0006250
HGNCiHGNC:17637 PERP
HPAiHPA022269
MIMi609301 gene
neXtProtiNX_Q96FX8
OpenTargetsiENSG00000112378
PharmGKBiPA134944221
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4671 Eukaryota
ENOG4111P5K LUCA
GeneTreeiENSGT00530000063484
HOVERGENiHBG061500
InParanoidiQ96FX8
KOiK10136
OMAiTWAYGFG
OrthoDBiEOG091G0S9P
PhylomeDBiQ96FX8
TreeFamiTF312855

Enzyme and pathway databases

ReactomeiR-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
SIGNORiQ96FX8

Miscellaneous databases

ChiTaRSiPERP human
GeneWikiiPERP
GenomeRNAii64065
PROiPR:Q96FX8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112378 Expressed in 218 organ(s), highest expression level in zone of skin
CleanExiHS_PERP
GenevisibleiQ96FX8 HS

Family and domain databases

InterProiView protein in InterPro
IPR015664 P53_induced
IPR004031 PMP22/EMP/MP20/Claudin
PANTHERiPTHR14399 PTHR14399, 1 hit
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPERP_HUMAN
AccessioniPrimary (citable) accession number: Q96FX8
Secondary accession number(s): B2RB73
, E1P590, Q8IWS3, Q8N1J6, Q8NC16, Q9H1C5, Q9H230
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 128 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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