Tag Content
SG ID
SG00004433 
UniProt Accession
Theoretical PI
6.67  
Molecular Weight
21567 Da  
Genbank Nucleotide ID
Genbank Protein ID
Gene Name
Perp 
Gene Synonyms/Alias
Krtcap1 
Protein Name
p53 apoptosis effector related to PMP-22 
Protein Synonyms/Alias
Keratinocyte-associated protein 1;KCP-1 
Organism
Mus musculus (Mouse) 
NCBI Taxonomy ID
10090 
Chromosome Location
chr:10;18564877-18576879;1
View in Ensembl genome browser  
Function in Stage
Uncertain 
Function in Cell Type
Uncertain 
Probability (GAS) of Function in Spermatogenesis
0.164488188 
The probability was calculated by GAS algorithm, ranging from 0 to 1. The closer it is to 1, the more possibly it functions in spermatogenesis.
Description
Temporarily unavailable 
Abstract of related literatures
1. The p53 tumor suppressor activates either cell cycle arrest or apoptosis in response to cellular stress. Mouse embryo fibroblasts (MEFs) provide a powerful primary cell system to study both p53-dependent pathways. Specifically, in response to DNA damage, MEFs undergo p53-dependent G(1) arrest, whereas MEFs expressing the adenovirus E1A oncoprotein undergo p53-dependent apoptosis. As the p53-dependent apoptosis pathway is not well understood, we sought to identify apoptosis-specific p53 target genes using a subtractive cloning strategy. Here, we describe the characterization of a gene identified in this screen, PERP, which is expressed in a p53-dependent manner and at high levels in apoptotic cells compared with G(1)-arrested cells. PERP induction is linked to p53-dependent apoptosis, including in response to E2F-1-driven hyperproliferation. Furthermore, analysis of the PERP promoter suggests that PERP is directly activated by p53. PERP shows sequence similarity to the PMP-22/gas3 tetraspan membrane protein implicated in hereditary human neuropathies such as Charcot-Marie-Tooth. Like PMP-22/gas3, PERP is a plasma membrane protein, and importantly, its expression causes cell death in fibroblasts. Taken together, these data suggest that PERP is a novel effector of p53-dependent apoptosis. PMID: [10733530] 

2. This study describes comprehensive polling of transcription start and termination sites and analysis of previously unidentified full-length complementary DNAs derived from the mouse genome. We identify the 5' and 3' boundaries of 181,047 transcripts with extensive variation in transcripts arising from alternative promoter usage, splicing, and polyadenylation. There are 16,247 new mouse protein-coding transcripts, including 5154 encoding previously unidentified proteins. Genomic mapping of the transcriptome reveals transcriptional forests, with overlapping transcription on both strands, separated by deserts in which few transcripts are observed. The data provide a comprehensive platform for the comparative analysis of mammalian transcriptional regulation in differentiation and development. PMID: [16141072] 

3. The National Institutes of Health's Mammalian Gene Collection (MGC) project was designed to generate and sequence a publicly accessible cDNA resource containing a complete open reading frame (ORF) for every human and mouse gene. The project initially used a random strategy to select clones from a large number of cDNA libraries from diverse tissues. Candidate clones were chosen based on 5'-EST sequences, and then fully sequenced to high accuracy and analyzed by algorithms developed for this project. Currently, more than 11,000 human and 10,000 mouse genes are represented in MGC by at least one clone with a full ORF. The random selection approach is now reaching a saturation point, and a transition to protocols targeted at the missing transcripts is now required to complete the mouse and human collections. Comparison of the sequence of the MGC clones to reference genome sequences reveals that most cDNA clones are of very high sequence quality, although it is likely that some cDNAs may carry missense variants as a consequence of experimental artifact, such as PCR, cloning, or reverse transcriptase errors. Recently, a rat cDNA component was added to the project, and ongoing frog (Xenopus) and zebrafish (Danio) cDNA projects were expanded to take advantage of the high-throughput MGC pipeline. PMID: [15489334] 

4. p63 is a master regulator of stratified epithelial development that is both necessary and sufficient for specifying this multifaceted program. We show here that Perp, a tetraspan membrane protein originally identified as an apoptosis-associated target of the p53 tumor suppressor, is the first direct target of p63 clearly involved in mediating this developmental program in vivo. During embryogenesis, Perp is expressed in an epithelial pattern, and its expression depends on p63. Perp-/- mice die postnatally, with dramatic blistering in stratified epithelia symptomatic of compromised adhesion. Perp localizes specifically to desmosomes, adhesion junctions important for tissue integrity, and numerous structural defects in desmosomes are observed in Perp-deficient skin, suggesting a role for Perp in promoting the stable assembly of desmosomal adhesive complexes. These findings demonstrate that Perp is a key effector in the p63 developmental program, playing an essential role in an adhesion subprogram central to epithelial integrity and homeostasis. PMID: [15797384] 

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Function
Component of intercellular desmosome junctions. Plays arole in stratified epithelial integrity and cell-cell adhesion bypromoting desmosome assembly. Plays a role as an effector in theTP53-dependent apoptotic pathway. 
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Subcellular Location
Cell junction, desmosome. Cell membrane;Multi-pass membrane protein. Note=Associated with desmosomes. 
Tissue Specificity
Expressed in the stratified squamous skinepithelium of the skin and the tongue, but not in simple epithelia(at protein level). Expressed in apoptotic cells. 
Gene Ontology
GO IDGO termEvidence
GO:0030057 C:desmosome IEA:UniProtKB-SubCell.
GO:0005794 C:Golgi apparatus IDA:MGI.
GO:0005887 C:integral to plasma membrane IDA:MGI.
GO:0005739 C:mitochondrion IDA:MGI.
GO:0005634 C:nucleus IEA:Compara.
GO:0006915 P:apoptotic process IEA:UniProtKB-KW.
GO:0007155 P:cell adhesion IEA:UniProtKB-KW.
GO:0006917 P:induction of apoptosis IDA:MGI.
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Interpro
IPR015664;    P53_induced.
IPR004031;    PMP22/EMP/MP20/Claudin.
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Pfam
PF00822;    PMP22_Claudin;    1.
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SMART
PROSITE
PRINTS
Created Date
18-Oct-2012 
Record Type
GAS predicted 
Sequence Annotation
CHAIN         1    193       p53 apoptosis effector related to PMP-22.
                             /FTId=PRO_0000226995.
TRANSMEM     12     32       Helical; (Potential).
TRANSMEM     81    101       Helical; (Potential).
TRANSMEM    110    130       Helical; (Potential).
TRANSMEM    151    171       Helical; (Potential).
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Nucleotide Sequence
Length: 1920 bp   Go to nucleotide: FASTA
Protein Sequence
Length: 193 bp   Go to amino acid: FASTA
The verified Protein-Protein interaction information
UniProt
Gene Symbol Ref Databases
Other Protein-Protein interaction resources
String database  
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