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PERP p53 apoptosis effector related to PMP22 [ Homo sapiens (human) ]

Gene ID: 64065, updated on 22-Aug-2020

Summary

Official Symbol
PERPprovided by HGNC
Official Full Name
p53 apoptosis effector related to PMP22provided by HGNC
Primary source
HGNC:HGNC:17637
See related
Ensembl:ENSG00000112378 MIM:609301
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
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (138088505..138107419, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 
cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cornification TAS
Traceable Author Statement
more info
 
desmosome organization IEA
Inferred from Electronic Annotation
more info
 
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-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
PERP, TP53 apoptosis effector
keratinocyte-associated protein 1
keratinocytes associated protein 1
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_022121.5NP_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, ENST00000421351.4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    138088505..138107419 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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