• Gene id: 64065

Gene Summary

• Gene Symbol: PERP   Gene   UCSC   Ensembl
• Aliases: KCP1, KRTCAP1, PIGPC1, THW, dJ496H19.1
• Gene name: p53 apoptosis effector related to PMP22
• Alternate names: p53 apoptosis effector related to PMP-22, 1110017A08Rik, KCP-1, PERP, TP53 apoptosis effector, keratinocyte-associated protein 1, keratinocytes associated protein 1, p53-induced protein PIGPC1, transmembrane protein THW,
• Gene location: 6q23.3 (138107418: 138088504)     Exons: 4     NC_000006.12
• OMIM: 609301

Protein Summary

• Protein general information: Q96FX8  
  • Name: p53 apoptosis effector related to PMP 22 (Keratinocyte associated protein 1) (KCP 1) (P53 induced protein PIGPC1) (Transmembrane protein THW)
  • Length: 193  
  • Mass: 21386
  • Tissue specificity: Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts. {ECO
• Sequence:

  MIRCGLACERCRWILPLLLLSAIAFDIIALAGRGWLQSSDHGQTSSLWWKCSQEGGGSGSYEEGCQSLMEYAWGR
  AAAAMLFCGFIILVICFILSFFALCGPQMLVFLRVIGGLLALAAVFQIISLVIYPVKYTQTFTLHANPAVTYIYN
  WAYGFGWAATIILIGCAFFFCCLPNYEDDLLGNAKPRYFYTSA

• Structural information:
  • Interpro: IPR015664  IPR004031  
  • STRING: ENSP00000397157
• Other Databases: GeneCards:  PERP  Malacards:  PERP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030054	cell junction	IBA	cellular component
GO:0002934	desmosome organization	IBA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0042981	regulation of apoptotic process	TAS	biological process
GO:0070268	cornification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0002934	desmosome organization	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0097186	amelogenesis	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0034113	heterotypic cell-cell adhesion	IEA	biological process
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IEA	biological process
GO:0045862	positive regulation of proteolysis	IDA	biological process
GO:0097202	activation of cysteine-type endopeptidase activity	IDA	biological process
GO:0030057	desmosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04115	p53 signaling pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)