7ura

Structural highlights

Disease

PORCN_HUMAN Focal dermal hypoplasia;Colobomatous microphthalmia. The disease is caused by variants affecting the gene represented in this entry.

Function

PORCN_HUMAN 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(9Z)), to Wnt proteins. Serine palmitoleoylation of WNT proteins is required for efficient binding to frizzled receptors.[UniProtKB:Q9JJJ7]^{[1] [2] [3]}

References

1. ↑ Caricasole A, Ferraro T, Rimland JM, Terstappen GC. Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine. Gene. 2002 Apr 17;288(1-2):147-57. doi: 10.1016/s0378-1119(02)00467-5. PMID:12034504 doi:http://dx.doi.org/10.1016/s0378-1119(02)00467-5
2. ↑ Coombs GS, Yu J, Canning CA, Veltri CA, Covey TM, Cheong JK, Utomo V, Banerjee N, Zhang ZH, Jadulco RC, Concepcion GP, Bugni TS, Harper MK, Mihalek I, Jones CM, Ireland CM, Virshup DM. WLS-dependent secretion of WNT3A requires Ser209 acylation and vacuolar acidification. J Cell Sci. 2010 Oct 1;123(Pt 19):3357-67. doi: 10.1242/jcs.072132. Epub 2010 Sep, 7. PMID:20826466 doi:http://dx.doi.org/10.1242/jcs.072132
3. ↑ Gao X, Hannoush RN. Single-cell imaging of Wnt palmitoylation by the acyltransferase porcupine. Nat Chem Biol. 2014 Jan;10(1):61-8. doi: 10.1038/nchembio.1392. Epub 2013 Nov 24. PMID:24292069 doi:http://dx.doi.org/10.1038/nchembio.1392