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Perp PERP, TP53 apoptosis effector [ Mus musculus (house mouse) ]

Gene ID: 64058, updated on 26-Sep-2022

Summary

Official Symbol
Perpprovided by MGI
Official Full Name
PERP, TP53 apoptosis effectorprovided by MGI
Primary source
MGI:MGI:1929938
See related
Ensembl:ENSMUSG00000019851 AllianceGenome:MGI:1929938
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
THW; KCP1; PIGPC1; KRTCAP1; 1110017A08Rik
Summary
Acts upstream of or within several processes, including amelogenesis; desmosome organization; and intrinsic apoptotic signaling pathway by p53 class mediator. Located in Golgi apparatus and mitochondrion. Is integral component of plasma membrane. Is expressed in several structures, including alimentary system; brain ventricle and choroid plexus; limb primordium; sensory organ; and skin. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. Orthologous to human PERP (p53 apoptosis effector related to PMP22). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in stomach adult (RPKM 379.3), duodenum adult (RPKM 159.3) and 14 other tissues See more
Orthologs
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Genomic context

See Perp in Genome Data Viewer
Location:
10; 10 A3
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (18720819..18732821)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (18845071..18857073)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 32926 Neighboring gene RIKEN cDNA 4930444F02 gene Neighboring gene predicted gene 4922 Neighboring gene tumor necrosis factor, alpha-induced protein 3 Neighboring gene predicted gene, 51814

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by MGI

Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell junction IEA
Inferred from Electronic Annotation
more info
 
is_active_in cell-cell junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion HDA PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
p53 apoptosis effector related to PMP-22
Names
KCP-1
keratinocyte-associated protein 1
p53 apoptosis effector related to Pmp22
p53 apoptosis-associated target

NCBI Reference Sequences (RefSeq)

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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_022032.4NP_071315.1  p53 apoptosis effector related to PMP-22

    See identical proteins and their annotated locations for NP_071315.1

    Status: PROVISIONAL

    Source sequence(s)
    AC158630
    Consensus CDS
    CCDS23714.1
    UniProtKB/Swiss-Prot
    Q9JI77, Q9JK95
    Related
    ENSMUSP00000019998.8, ENSMUST00000019998.9

RefSeqs of Annotated Genomes: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    18720819..18732821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)