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Protein

p53 apoptosis effector related to PMP-22

Gene

PERP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Apoptosis, 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.
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

HGNCiHGNC:17637. PERP.

Subcellular locationi

  • Cell junctiondesmosome By similarity
  • Cell membrane By similarity; Multi-pass membrane protein Sequence analysis

  • Note: Associated with desmosomes.By similarity

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei12 – 3221HelicalSequence analysisAdd
BLAST
Transmembranei79 – 9921HelicalSequence analysisAdd
BLAST
Transmembranei110 – 13021HelicalSequence analysisAdd
BLAST
Transmembranei151 – 17121HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134944221.

Polymorphism and mutation databases

BioMutaiPERP.
DMDMi74751865.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 193193p53 apoptosis effector related to PMP-22PRO_0000226994Add
BLAST

Proteomic databases

EPDiQ96FX8.
MaxQBiQ96FX8.
PaxDbiQ96FX8.
PeptideAtlasiQ96FX8.
PRIDEiQ96FX8.

PTM databases

iPTMnetiQ96FX8.
SwissPalmiQ96FX8.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000112378.
CleanExiHS_PERP.
GenevisibleiQ96FX8. HS.

Organism-specific databases

HPAiHPA022269.

Interactioni

Protein-protein interaction databases

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

InterProiIPR015664. P53_induced.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERiPTHR14399. PTHR14399. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti4 – 74Missing in BAC05205 (PubMed:14702039).Curated
Sequence conflicti178 – 1781D → E in BAC11390 (PubMed:16303743).Curated
Sequence conflicti193 – 1931A → G in AAO13162 (PubMed:12752121).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti143 – 1431P → R.2 Publications
Corresponds to variant rs648802 [ dbSNP | Ensembl ].
VAR_052341
Natural varianti174 – 1741P → L.2 Publications
Corresponds to variant rs75183345 [ dbSNP | Ensembl ].
VAR_070891

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, AL023582 Genomic DNA. Translation: CAI21518.1.
AL023582, AL355362 Genomic DNA. Translation: CAI21563.1.
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

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, AL023582 Genomic DNA. Translation: CAI21518.1.
AL023582, AL355362 Genomic DNA. Translation: CAI21563.1.
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

STRINGi9606.ENSP00000397157.

PTM databases

iPTMnetiQ96FX8.
SwissPalmiQ96FX8.

Polymorphism and mutation databases

BioMutaiPERP.
DMDMi74751865.

Proteomic databases

EPDiQ96FX8.
MaxQBiQ96FX8.
PaxDbiQ96FX8.
PeptideAtlasiQ96FX8.
PRIDEiQ96FX8.

Protocols and materials databases

DNASUi64065.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi64065.
GeneCardsiPERP.
H-InvDBHIX0006250.
HGNCiHGNC:17637. PERP.
HPAiHPA022269.
MIMi609301. gene.
neXtProtiNX_Q96FX8.
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.
SIGNORiQ96FX8.

Miscellaneous databases

ChiTaRSiPERP. human.
GeneWikiiPERP.
GenomeRNAii64065.
PROiQ96FX8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112378.
CleanExiHS_PERP.
GenevisibleiQ96FX8. HS.

Family and domain databases

InterProiIPR015664. P53_induced.
IPR004031. PMP22/EMP/MP20/Claudin.
[Graphical view]
PANTHERiPTHR14399. PTHR14399. 1 hit.
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPERP_HUMAN
AccessioniPrimary (citable) accession number: Q96FX8
Secondary accession number(s): B2RB73
, E1P590, Q8IWS3, Q8N1J6, Q8NC16, Q9H1C5, Q9H230
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: December 1, 2001
Last modified: September 7, 2016
This is version 116 of the entry and version 1 of the sequence. [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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.