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PERP PERP, TP53 apoptosis effector [ Homo sapiens (human) ]

Gene ID: 64065, updated on 5-Aug-2018

Summary

Official Symbol
PERPprovided by HGNC
Official Full Name
PERP, TP53 apoptosis effectorprovided by HGNC
Primary source
HGNC:HGNC:17637
See related
Ensembl:ENSG00000112378 MIM:609301; Vega:OTTHUMG00000015668
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
THW; KCP1; PIGPC1; KRTCAP1; dJ496H19.1
Expression
Biased expression in skin (RPKM 558.0), esophagus (RPKM 335.7) and 6 other tissues See more
Orthologs

Genomic context

See PERP in Genome Data Viewer
Location:
6q23.3
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (138088505..138107523, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (138409642..138428660, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378021 Neighboring gene ribosomal protein SA pseudogene 42 Neighboring gene ARFGEF family member 3 Neighboring gene prostate and breast cancer overexpressed 1 Neighboring gene small integral membrane protein 28

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of TP53 apoptosis effector (PERP) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif upregulates the expression of TP53 apoptosis effector (PERP) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
    Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
  • TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystemThe tumor suppressor TP53 (p53) exerts its tumor suppressive role in part by regulating transcription of a number of genes involved in cell death, mainly apoptotic cell death. The majority of apoptot...
  • TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, organism-specific biosystem (from REACTOME)
    TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, organism-specific biosystemThe exact mechanisms of action of several other pro-apoptotic TP53 (p53) targets, such as TP53I3 (PIG3), RABGGTA, BCL2L14, BCL6, NDRG1 and PERP, remain uncertain (Attardi et al. 2000, Guo et al. 2001...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • p53 signaling pathway, organism-specific biosystem (from KEGG)
    p53 signaling pathway, organism-specific biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...
  • p53 signaling pathway, conserved biosystem (from KEGG)
    p53 signaling pathway, conserved biosystemp53 activation is induced by a number of stress signals, including DNA damage, oxidative stress and activated oncogenes. The p53 protein is employed as a transcriptional activator of p53-regulated ge...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
activation of cysteine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
amelogenesis IEA
Inferred from Electronic Annotation
more info
 
cornification TAS
Traceable Author Statement
more info
 
desmosome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heterotypic cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
intrinsic apoptotic signaling pathway by p53 class mediator IEA
Inferred from Electronic Annotation
more info
 
positive regulation of proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of apoptotic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
desmosome IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
p53 apoptosis effector related to PMP-22
Names
1110017A08Rik
KCP-1
keratinocyte-associated protein 1
keratinocytes associated protein 1
p53 apoptosis effector related to PMP22
p53-induced protein PIGPC1
transmembrane protein THW

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_022121.4NP_071404.2  p53 apoptosis effector related to PMP-22

    See identical proteins and their annotated locations for NP_071404.2

    Status: VALIDATED

    Source sequence(s)
    AL023582, BC010163, BU674771, CX784592
    Consensus CDS
    CCDS5188.1
    UniProtKB/Swiss-Prot
    Q96FX8
    Related
    ENSP00000397157.2, OTTHUMP00000017293, ENST00000421351.3, OTTHUMT00000042423

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    138088505..138107523 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446520.1XP_024302288.1  p53 apoptosis effector related to PMP-22 isoform X1

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