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Aliases for PERP Gene

Aliases for PERP Gene

  • PERP, TP53 Apoptosis Effector 2 3 5
  • Keratinocyte Associated Protein 1 2 3
  • Keratinocyte-Associated Protein 1 3 4
  • P53-Induced Protein PIGPC1 3 4
  • Transmembrane Protein THW 3 4
  • KRTCAP1 3 4
  • PIGPC1 3 4
  • KCP-1 3 4
  • KCP1 3 4
  • THW 3 4
  • P53 Apoptosis Effector Related To PMP22 3
  • Keratinocytes Associated Protein 1 3
  • 1110017A08Rik 3
  • DJ496H19.1 3

External Ids for PERP Gene

Previous GeneCards Identifiers for PERP Gene

  • GC06M138392
  • GC06M138453
  • GC06M135971

Summaries for PERP Gene

GeneCards Summary for PERP Gene

PERP (PERP, TP53 Apoptosis Effector) is a Protein Coding gene. Among its related pathways are Gene Expression and p53 Pathway (RnD). An important paralog of this gene is TMEM47.

UniProtKB/Swiss-Prot for PERP Gene

  • 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).

Gene Wiki entry for PERP Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PERP Gene

Genomics for PERP Gene

Regulatory Elements for PERP Gene

Promoters for PERP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PERP on UCSC Golden Path with GeneCards custom track

Genomic Location for PERP Gene

Chromosome:
6
Start:
138,088,505 bp from pter
End:
138,107,523 bp from pter
Size:
19,019 bases
Orientation:
Minus strand

Genomic View for PERP Gene

Genes around PERP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PERP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PERP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PERP Gene

Proteins for PERP Gene

  • Protein details for PERP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FX8-PERP_HUMAN
    Recommended name:
    p53 apoptosis effector related to PMP-22
    Protein Accession:
    Q96FX8
    Secondary Accessions:
    • B2RB73
    • E1P590
    • Q8IWS3
    • Q8N1J6
    • Q8NC16
    • Q9H1C5
    • Q9H230

    Protein attributes for PERP Gene

    Size:
    193 amino acids
    Molecular mass:
    21386 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PERP Gene

Proteomics data for PERP Gene at MOPED

Post-translational modifications for PERP Gene

No Post-translational modifications

Other Protein References for PERP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PERP Gene

Domains & Families for PERP Gene

Protein Domains for PERP Gene

Suggested Antigen Peptide Sequences for PERP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96FX8

UniProtKB/Swiss-Prot:

PERP_HUMAN :
  • Belongs to the TMEM47 family.
Family:
  • Belongs to the TMEM47 family.
genes like me logo Genes that share domains with PERP: view

No data available for Gene Families for PERP Gene

Function for PERP Gene

Molecular function for PERP Gene

UniProtKB/Swiss-Prot 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).
genes like me logo Genes that share phenotypes with PERP: view

Animal Models for PERP Gene

MGI Knock Outs for PERP:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PERP Gene

Localization for PERP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PERP Gene

Cell junction, desmosome. Cell membrane; Multi-pass membrane protein. Note=Associated with desmosomes. {ECO:0000250 UniProtKB:Q9JK95}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PERP Gene COMPARTMENTS Subcellular localization image for PERP gene
Compartment Confidence
plasma membrane 4
mitochondrion 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for PERP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane TAS --
GO:0030054 cell junction IBA --
GO:0030057 desmosome IEA --
genes like me logo Genes that share ontologies with PERP: view

Pathways & Interactions for PERP Gene

genes like me logo Genes that share pathways with PERP: view

Interacting Proteins for PERP Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000397157%0d%0a9606.ENSP00000269305%0d%0a9606.ENSP00000263253%0d%0a
Selected Interacting proteins: ENSP00000397157 for PERP Gene via STRING

SIGNOR curated interactions for PERP Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PERP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002934 desmosome organization IBA --
GO:0007219 Notch signaling pathway IEA --
GO:0034113 heterotypic cell-cell adhesion IEA --
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator IEA --
GO:0098609 cell-cell adhesion IBA --
genes like me logo Genes that share ontologies with PERP: view

Drugs & Compounds for PERP Gene

No Compound Related Data Available

Transcripts for PERP Gene

mRNA/cDNA for PERP Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(530) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PERP Gene

PERP, TP53 apoptosis effector:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PERP Gene

No ASD Table

Relevant External Links for PERP Gene

GeneLoc Exon Structure for
PERP
ECgene alternative splicing isoforms for
PERP

Expression for PERP Gene

mRNA expression in normal human tissues for PERP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PERP Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x12.7), Skin - Not Sun Exposed (Suprapubic) (x10.8), Esophagus - Mucosa (x8.8), and Vagina (x4.5).

Protein differential expression in normal tissues from HIPED for PERP Gene

This gene is overexpressed in Hair follicle (25.5), Esophagus (10.8), Urine (6.9), and Heart (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PERP Gene



SOURCE GeneReport for Unigene cluster for PERP Gene Hs.201446

mRNA Expression by UniProt/SwissProt for PERP Gene

Q96FX8-PERP_HUMAN
Tissue specificity: Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts.
genes like me logo Genes that share expression patterns with PERP: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for PERP Gene

Orthologs for PERP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PERP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PERP 35
  • 88.95 (n)
  • 92.93 (a)
-- 36
  • 92 (a)
OneToMany
PERP 36
  • 93 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PERP 35
  • 91.88 (n)
  • 96.37 (a)
PERP 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Perp 35
  • 86.87 (n)
  • 90.67 (a)
Perp 16
Perp 36
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Perp 35
  • 88.08 (n)
  • 92.75 (a)
oppossum
(Monodelphis domestica)
Mammalia PERP 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PERP 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PERP 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC421682 35
  • 63.6 (n)
  • 56.76 (a)
-- 36
  • 54 (a)
OneToMany
PERP 36
  • 53 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 54 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia perp 35
  • 63 (n)
  • 57.69 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7006 35
zebrafish
(Danio rerio)
Actinopterygii perp 35
  • 60.66 (n)
  • 49.18 (a)
perp 36
  • 48 (a)
OneToOne
Species with no ortholog for PERP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PERP Gene

ENSEMBL:
Gene Tree for PERP (if available)
TreeFam:
Gene Tree for PERP (if available)

Paralogs for PERP Gene

Paralogs for PERP Gene

(1) SIMAP similar genes for PERP Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for PERP Gene

genes like me logo Genes that share paralogs with PERP: view

Variants for PERP Gene

Sequence variations from dbSNP and Humsavar for PERP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs648802 - 138,092,196(+) CAGCA(C/G)GGTTG reference, missense
rs75183345 - 138,092,103(+) AGTTG(A/G)GGAGG reference, missense
rs6588 -- 138,091,176(+) TGACA(A/G)GAATG utr-variant-3-prime
rs8155 -- 138,090,933(-) TGCAT(C/T)GGATA utr-variant-3-prime
rs9759 -- 138,088,630(+) CCCTT(C/T)CTTGG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PERP Gene

Variant ID Type Subtype PubMed ID
esv2069832 CNV Deletion 18987734
esv2623440 CNV Deletion 19546169

Variation tolerance for PERP Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.04; 37.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PERP Gene

HapMap Linkage Disequilibrium report
PERP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PERP Gene

Disorders for PERP Gene

Relevant External Links for PERP

Genetic Association Database (GAD)
PERP
Human Genome Epidemiology (HuGE) Navigator
PERP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PERP

No disorders were found for PERP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PERP Gene

Publications for PERP Gene

  1. Identification of THW, a putative new tumor suppressor gene. (PMID: 11062687) Hildebrandt T. … Weidle U. (Anticancer Res. 2000) 2 3 4 67
  2. CBFI^ stabilizes HIV Vif to counteract APOBEC3 at the expense of RUNX1 target gene expression. (PMID: 23333304) Kim D.Y. … Gross J.D. (Mol. Cell 2013) 3
  3. Genetic variants associated with disordered eating. (PMID: 23568457) Wade T.D. … Martin N.G. (Int J Eat Disord 2013) 3
  4. Decreased PERP expression on peripheral blood mononuclear cells from patient with rheumatoid arthritis negatively correlates with disease activity. (PMID: 24066004) Du Y. … Shi G. (Clin. Dev. Immunol. 2013) 3
  5. Deficiency of the p53/p63 target Perp alters mammary gland homeostasis and promotes cancer. (PMID: 22515648) Dusek R.L. … Attardi L.D. (Breast Cancer Res. 2012) 3

Products for PERP Gene

Sources for PERP Gene

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