PERP (p53 apoptosis effector related to PMP22)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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64065 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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P53 apoptosis effector related to PMP22 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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PERP |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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EKVP7, KCP1, KRTCAP1, OLMS2, PIGPC1, THW, dJ496H19.1 |
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Chromosome
Chromosome number
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6 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6q23.3 |
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | Q96FX8 | ||||||||||
| Protein name | p53 apoptosis effector related to PMP-22 (Keratinocyte-associated protein 1) (KCP-1) (P53-induced protein PIGPC1) (Transmembrane protein THW) | ||||||||||
| Protein function | Component of intercellular desmosome junctions (By similarity). Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly (By similarity). Thereby plays a role in barrier function of the skin against | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in skin, heart, placental, liver, pancreas, keratinocytes and dermal fibroblasts. May translocate to the intestinal apical epithelial cell surface via sipA and sctB1/sipC-promoted exocytic translocation following infection by | ||||||||||
| Sequence |
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| Sequence length | 193 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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