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PERP

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Protein-coding gene in the species Homo sapiens
PERP
Identifiers
AliasesPERP, KCP1, KRTCAP1, PIGPC1, THW, dJ496H19.1, TP53 apoptosis effector, p53 apoptosis effector related to PMP22, EKVP7, OLMS2
External IDsOMIM: 609301; MGI: 1929938; HomoloGene: 11098; GeneCards: PERP; OMA:PERP - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)
Chromosome 6 (human)Genomic location for PERPGenomic location for PERP
Band6q23.3Start138,088,505 bp
End138,107,419 bp
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)
Chromosome 10 (mouse)Genomic location for PERPGenomic location for PERP
Band10|10 A3Start18,720,768 bp
End18,732,821 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • human penis

  • skin of thigh

  • mucosa of pharynx

  • nipple

  • skin of hip

  • vulva

  • oral cavity

  • gingival epithelium

  • body of tongue

  • epithelium of nasopharynx
Top expressed in
  • corneal stroma

  • epidermis

  • hair follicle

  • skin of external ear

  • lip

  • skin of back

  • transitional epithelium of urinary bladder

  • skin of abdomen

  • molar

  • esophagus
More reference expression data
BioGPS
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

64065

64058

Ensembl

ENSG00000112378

ENSMUSG00000019851

UniProt

Q96FX8

Q9JK95

RefSeq (mRNA)

NM_022121

NM_022032

RefSeq (protein)

NP_071404

NP_071315

Location (UCSC)Chr 6: 138.09 – 138.11 MbChr 10: 18.72 – 18.73 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

p53 apoptosis effector related to PMP-22 is a plasma membrane protein that, in humans, is encoded by the PERP gene.

PERP is a direct transcriptional target of p53, but its transcription can also be regulated by other transcription factors.

PERP is important for skin development, and loss of PERP is associated with the development and progression of several types of human cancers.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000112378Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000019851Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Hildebrandt T, Preiherr J, Tarbe N, Klostermann S, Van Muijen GN, Weidle UH (Dec 2000). "Identification of THW, a putative new tumor suppressor gene". Anticancer Res. 20 (5A): 2801–2809. PMID 11062687.
  6. "Entrez Gene: PERP PERP, TP53 apoptosis effector".
  7. ^ Roberts O, Paraoan L (Dec 2020). "PERP-ing into diverse mechanisms of cancer pathogenesis: Regulation and role of the p53/p63 effector PERP". Biochim Biophys Acta Rev Cancer. 1874 (1): 188393. doi:10.1016/j.bbcan.2020.188393. PMID 32679166. S2CID 220631324.

Further reading

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