Human Gene PERP (uc003qht.2)
  Description: Homo sapiens PERP, TP53 apoptosis effector (PERP), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr6:138,409,642-138,428,660 Size: 19,019 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr6:138,413,179-138,428,477 Size: 15,299 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:138,409,642-138,428,660)mRNA (may differ from genome)Protein (193 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PERP_HUMAN
DESCRIPTION: RecName: Full=p53 apoptosis effector related to PMP-22; AltName: Full=Keratinocyte-associated protein 1; Short=KCP-1; AltName: Full=P53-induced protein PIGPC1; AltName: Full=Transmembrane protein THW;
FUNCTION: 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).
SUBCELLULAR LOCATION: Cell junction, desmosome. Cell membrane; Multi-pass membrane protein (By similarity). Note=Associated with desmosomes (By similarity).
TISSUE SPECIFICITY: Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts.
SIMILARITY: Belongs to the TMEM47 family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PERP
CDC HuGE Published Literature: PERP
Positive Disease Associations: Forced Vital Capacity , longevity
Related Studies:
  1. Forced Vital Capacity
    , , . [PubMed 0]
  2. longevity
    Flachsbart F et al. 2010, Investigation of genetic susceptibility factors for human longevity - A targeted nonsynonymous SNP study., Mutation research 694 : 13-9 2010. [PubMed 20800603]

-  MalaCards Disease Associations
  MalaCards Gene Search: PERP
Diseases sorted by gene-association score: arrhythmogenic right ventricular cardiomyopathy (2), uveal melanoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001564 Benzo(a)pyrene
  • D004041 Dietary Fats
  • D004997 Ethinyl Estradiol
  • D013749 Tetrachlorodibenzodioxin
  • D015073 2-Acetylaminofluorene
  • C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid
  • C009505 4,4'-diaminodiphenylmethane
  • C477187 5-(4-methylpiperazin-1-yl)-2-(2'-(3,4-dimethoxyphenyl)-5'-benzimidazolyl)benzimidazole
  • D016604 Aflatoxin B1
  • D002857 Chromium
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 871.93 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 3304.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.00183-0.454 Picture PostScript Text
3' UTR -953.513537-0.270 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015664 - P53_induced
IPR004031 - PMP22/EMP/MP20/Claudin

Pfam Domains:
PF00822 - PMP-22/EMP/MP20/Claudin family

ModBase Predicted Comparative 3D Structure on Q96FX8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0002934 desmosome organization
GO:0006915 apoptotic process
GO:0007155 cell adhesion
GO:0007219 Notch signaling pathway
GO:0034113 heterotypic cell-cell adhesion
GO:0042981 regulation of apoptotic process
GO:0045862 positive regulation of proteolysis
GO:0070268 cornification
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator
GO:0097186 amelogenesis
GO:0097202 activation of cysteine-type endopeptidase activity

Cellular Component:
GO:0005739 mitochondrion
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030057 desmosome


-  Descriptions from all associated GenBank mRNAs
  AK097958 - Homo sapiens cDNA FLJ40639 fis, clone THYMU2016164, highly similar to Mus musculus p53 apoptosis-associated target (Perp) mRNA.
AJ251830 - Homo sapiens mRNA for transmembrane protein (THW gene).
AK075082 - Homo sapiens cDNA FLJ90601 fis, clone PLACE1001407, highly similar to P53-induced protein PIGPC1.
AK093516 - Homo sapiens cDNA FLJ36197 fis, clone TESTI2027828, highly similar to p53 apoptosis effector related to PMP-22.
AX748178 - Sequence 1703 from Patent EP1308459.
AK097387 - Homo sapiens cDNA FLJ40068 fis, clone TESOP2000569, highly similar to p53 apoptosis effector related to PMP-22.
AK074585 - Homo sapiens cDNA FLJ90104 fis, clone HEMBA1006335, highly similar to P53-induced protein PIGPC1.
JD023930 - Sequence 4954 from Patent EP1572962.
JD114209 - Sequence 95233 from Patent EP1572962.
JD027783 - Sequence 8807 from Patent EP1572962.
JD110619 - Sequence 91643 from Patent EP1572962.
JD317534 - Sequence 298558 from Patent EP1572962.
JD096717 - Sequence 77741 from Patent EP1572962.
JD283583 - Sequence 264607 from Patent EP1572962.
AK225907 - Homo sapiens mRNA for PERP, TP53 apoptosis effector variant, clone: FCC119F10.
JD561817 - Sequence 542841 from Patent EP1572962.
AF317550 - Homo sapiens p53-induced protein PIGPC1 (PIGPC1) mRNA, complete cds.
JD082812 - Sequence 63836 from Patent EP1572962.
JD245567 - Sequence 226591 from Patent EP1572962.
BC010163 - Homo sapiens PERP, TP53 apoptosis effector, mRNA (cDNA clone MGC:19598 IMAGE:3639866), complete cds.
JD379117 - Sequence 360141 from Patent EP1572962.
JD062136 - Sequence 43160 from Patent EP1572962.
AY157578 - Homo sapiens keratinocytes associated protein 1 (KCP1) mRNA, complete cds.
AK314526 - Homo sapiens cDNA, FLJ95345, Homo sapiens p53-induced protein PIGPC1 (PIGPC1), mRNA.
DQ892670 - Synthetic construct clone IMAGE:100005300; FLH190528.01X; RZPDo839B0476D PERP, TP53 apoptosis effector (PERP) gene, encodes complete protein.
EU176724 - Synthetic construct Homo sapiens clone IMAGE:100011518; FLH190527.01L; RZPDo839G07255D PERP, TP53 apoptosis effector (PERP) gene, encodes complete protein.
JD464690 - Sequence 445714 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04115 - p53 signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q96FX8 (Reactome details) participates in the following event(s):

R-HSA-6814695 PERP binds desmosomes
R-HSA-6809371 Formation of the cornified envelope
R-HSA-6803205 TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
R-HSA-6805567 Keratinization
R-HSA-5633008 TP53 Regulates Transcription of Cell Death Genes
R-HSA-1266738 Developmental Biology
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: E1P590, KCP1, KRTCAP1, NM_022121, NP_071404, PERP_HUMAN, PIGPC1, Q8IWS3, Q8N1J6, Q8NC16, Q96FX8, Q9H1C5, Q9H230, THW
UCSC ID: uc003qht.2
RefSeq Accession: NM_022121
Protein: Q96FX8 (aka PERP_HUMAN)
CCDS: CCDS5188.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_022121.4
exon count: 3CDS single in 3' UTR: no RNA size: 4319
ORF size: 582CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1364.00frame shift in genome: no % Coverage: 99.61
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.