PERP Gene Summary [Human]
Involved in activation of cysteine-type endopeptidase activity. Predicted to be located in plasma membrane. Predicted to be active in cell-cell junction. Implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | PERP |
| Official Name | p53 apoptosis effector related to PMP22 [Source:HGNC Symbol;Acc:HGNC:17637] |
| Ensembl ID | ENSG00000112378 |
| Bio databases IDs | |
| Aliases | p53 apoptosis effector related to PMP22, keratinocyte associated protein 1 |
| Synonyms | 1110017A08Rik, dJ496H19.1, EKVP7, ineligibleperp, KCP1, KRTCAP1, OLMS2, p53 apoptosis-associated target, p53 apoptosis effector related to PMP22, PERP, TP53 apoptosis effector, PIGPC1, THW |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PERP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PMP-22/EMP/MP20/Claudin family
- protein binding
Pathways
Biological processes and signaling networks where the PERP gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- papillomatosis
- epithelial neoplasia
- benign neoplasia
- bulimia nervosa
- organismal death
- Olmsted syndrome type 2
- lung adenocarcinoma
- lung adenocarcinoma formation
- rotator cuff injury
- erythrokeratodermia variabilis et progressiva 7
role in cell
- apoptosis
- cell death
- adhesion
- chemotaxis
- structure
- sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- Golgi Apparatus
- Mitochondria
- desmosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PERP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tissue homeostasis
- Notch signaling pathway
- activation of cysteine-type endopeptidase activity
- desmosome organization
- positive regulation of neutrophil chemotaxis
- signal transduction by p53 class mediator resulting in induction of apoptosis
- mammary gland duct morphogenesis
- positive regulation of T cell apoptotic process
- positive regulation of proteolysis
- heterotypic cell-cell adhesion
- amelogenesis
Cellular Component
Where in the cell the gene product is active
- cell-cell junction
- mitochondrion
- desmosome
- Golgi apparatus
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding