Aliases for PORCN Gene
External Ids for PORCN Gene
Previous HGNC Symbols for PORCN Gene
Previous GeneCards Identifiers for PORCN Gene
This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
GeneCards Summary for PORCN Gene
PORCN (Porcupine O-Acyltransferase) is a Protein Coding gene. Diseases associated with PORCN include Focal Dermal Hypoplasia and Angioma Serpiginosum. Among its related pathways are phosphorylation site mutants of CTNNB1 are not targeted to the proteasome by the destruction complex and HIV Life Cycle. GO annotations related to this gene include transferase activity, transferring acyl groups and palmitoleoyltransferase activity.
UniProtKB/Swiss-Prot for PORCN Gene
Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors.
Porcupine (PORCN) is a membrane bound O-acyltransferase (MBOAT) that is involved in the acylation (palmitoylation) of Wnt proteins. Palmitoylation is essential for Wnt secretion and signaling, with PORCN inhibitors showing efficacy in inhibiting Wnt-driven tumorigenesis.