PERP | ENSG00000112378 | NCBI 64065

Details for: PERP

Gene ID: 64065

Symbol: PERP

Ensembl ID: ENSG00000112378

Description: p53 apoptosis effector related to PMP22

Associated with

Developmental biology
(R-HSA-1266738)
Formation of the cornified envelope
(R-HSA-6809371)
Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Keratinization
(R-HSA-6805567)
Rna polymerase ii transcription
(R-HSA-73857)
Tp53 regulates transcription of cell death genes
(R-HSA-5633008)
Tp53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
(R-HSA-6803205)
Transcriptional regulation by tp53
(R-HSA-3700989)
Activation of cysteine-type endopeptidase activity
(GO:0097202)
Amelogenesis
(GO:0097186)
Cell-cell adhesion
(GO:0098609)
Cell-cell junction
(GO:0005911)
Desmosome
(GO:0030057)
Desmosome organization
(GO:0002934)
Golgi apparatus
(GO:0005794)
Heterotypic cell-cell adhesion
(GO:0034113)
Intrinsic apoptotic signaling pathway by p53 class mediator
(GO:0072332)
Mitochondrion
(GO:0005739)
Notch signaling pathway
(GO:0007219)
Plasma membrane
(GO:0005886)
Positive regulation of proteolysis
(GO:0045862)
Protein binding
(GO:0005515)

Other Information

Proteins

p53 apoptosis effector related to PMP-22

Genular Protein ID: 2768473533

Symbol: PERP_HUMAN

Name: p53 apoptosis effector related to PMP-22

UniProtKB Accession Codes:

Q96FX8 B2RB73 E1P590 Q8IWS3 Q8N1J6 Q8NC16 Q9H1C5 Q9H230

Database IDs:

Citations:

PubMed ID: 11062687

Title: Identification of THW, a putative new tumor suppressor gene.

PubMed ID: 11062687

PubMed ID: 12752121

Title: Identification of novel genes for secreted and membrane-anchored proteins in human keratinocytes.

PubMed ID: 12752121

DOI: 10.1046/j.1365-2133.2003.05244.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16303743

Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

PubMed ID: 16303743

DOI: 10.1093/dnares/12.2.117

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 30321533

Title: Mutations in PERP Cause Dominant and Recessive Keratoderma.

PubMed ID: 30321533

DOI: 10.1016/j.jid.2018.08.026

PubMed ID: 31361044

Title: Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP.

PubMed ID: 31361044

DOI: 10.1111/bjd.18311

PubMed ID: 31898316

Title: Confirming the recessive inheritance of PERP-related erythrokeratoderma.

PubMed ID: 31898316

DOI: 10.1111/cge.13699

Sequence Information:

Length: 193
Mass: 21386
Checksum: 69654E35C53B3FCE
Sequence:

MIRCGLACER CRWILPLLLL SAIAFDIIAL AGRGWLQSSD HGQTSSLWWK CSQEGGGSGS 
YEEGCQSLME YAWGRAAAAM LFCGFIILVI CFILSFFALC GPQMLVFLRV IGGLLALAAV 
FQIISLVIYP VKYTQTFTLH ANPAVTYIYN WAYGFGWAAT IILIGCAFFF CCLPNYEDDL 
LGNAKPRYFY TSA

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: PERP

Associated with

Other Information

Identification of THW, a putative new tumor suppressor gene. PubMed ID: 11062687

Identification of novel genes for secreted and membrane-anchored proteins in human keratinocytes. PubMed ID: 12752121

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. PubMed ID: 16303743

The DNA sequence and analysis of human chromosome 6. PubMed ID: 14574404

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Mutations in PERP Cause Dominant and Recessive Keratoderma. PubMed ID: 30321533

Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP. PubMed ID: 31361044

Confirming the recessive inheritance of PERP-related erythrokeratoderma. PubMed ID: 31898316