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PORCN
Identifiers
Aliases	PORCN, DHOF, FODH, MG61, PORC, PPN, porcupine homolog (Drosophila), porcupine O-acyltransferase
External IDs	OMIM: 300651; MGI: 1890212; HomoloGene: 41529; GeneCards: PORCN; OMA:PORCN - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xp11.23 Start 48,508,959 bp End 48,520,814 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X A1.1|X 3.7 cM Start 8,060,087 bp End 8,072,764 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left adrenal cortex right hemisphere of cerebellum right frontal lobe stromal cell of endometrium anterior cingulate cortex right auricle prefrontal cortex granulocyte apex of heart Top expressed in primary visual cortex dentate gyrus of hippocampal formation granule cell esophagus superior frontal gyrus cerebellar cortex neural layer of retina morula lip urethra muscle of thigh More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity Wnt-protein binding acyltransferase activity palmitoleoyltransferase activity Cellular component integral component of membrane integral component of endoplasmic reticulum membrane AMPA glutamate receptor complex endoplasmic reticulum membrane endoplasmic reticulum membrane glutamatergic synapse Biological process canonical Wnt signaling pathway protein lipidation glycoprotein metabolic process Wnt signaling pathway protein palmitoleylation regulation of postsynaptic membrane neurotransmitter receptor levels Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64840 53627 Ensembl ENSG00000102312 ENSMUSG00000031169 UniProt Q9H237 Q9JJJ7 RefSeq (mRNA) NM_001282167 NM_022825 NM_203473 NM_203474 NM_203475 NM_203476 NM_016913 NM_023638 NM_145907 NM_145908 NM_001308474 RefSeq (protein) NP_001269096 NP_073736 NP_982299 NP_982300 NP_982301 NP_001295403 NP_058609 NP_076127 NP_665914 NP_665915 Location (UCSC) Chr X: 48.51 – 48.52 Mb Chr X: 8.06 – 8.07 Mb PubMed search
Wikidata
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PORCN (porcupine homolog – Drosophila) is a human gene. The protein is homologous to other membrane-bound O-acyltransferases.

Function

The protein encoded by this gene is an endoplasmic reticulum transmembrane protein involved in processing of wingless proteins such as WNT7A. It performs O-Palmitoleoylation of these proteins.

Clinical significance

Mutations in this gene are associated with focal dermal hypoplasia.

Mutations in PORCN are associated to Goltz-Gorlin syndrome.

Ligands

Inhibitors

• WNT974 (LGK-974) - 1243244-14-5, researched for anti-cancer effects in Wnt-pathway sensitive tumours. Also investigated for influencing cardiac tissue remodelling following infarction.

IWP (1-4)

RXC004

References

1. ^ GRCh38: Ensembl release 89: ENSG00000102312 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031169 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Tanaka K, Okabayashi K, Asashima M, Perrimon N, Kadowaki T (July 2000). "The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family". European Journal of Biochemistry. 267 (13): 4300–11. doi:10.1046/j.1432-1033.2000.01478.x. PMID 10866835.
6. ^ Caricasole A, Ferraro T, Rimland JM, Terstappen GC (April 2002). "Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine". Gene. 288 (1–2): 147–57. doi:10.1016/S0378-1119(02)00467-5. PMID 12034504.
7. Wang X, Reid Sutton V, Omar Peraza-Llanes J, et al. (July 2007). "Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia". Nat. Genet. 39 (7): 836–8. doi:10.1038/ng2057. PMID 17546030. S2CID 3184143.
8. Brady PD, Van Esch H, Fieremans N, Froyen G, Slavotinek A, Deprest J, Devriendt K, Vermeesch JR (April 2015). "Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia". European Journal of Human Genetics. 23 (4): 551–4. doi:10.1038/ejhg.2014.135. PMC 4666577. PMID 25026905.
9. Boone JD, Arend RC, Johnston BE, Cooper SJ, Gilchrist SA, Oelschlager DK, Grizzle WE, McGwin G Jr, Gangrade A, Straughn JM Jr, Buchsbaum DJ (Feb 2016). "Targeting the Wnt/β-catenin pathway in primary ovarian cancer with the porcupine inhibitor WNT974". Lab Invest. 96 (2): 249–59. doi:10.1038/labinvest.2015.150. PMID 26658453.
10. Moon J, et al. (2017). "Blockade to Pathological Remodeling of Infarcted Heart Tissue Using a Porcupine Antagonist". Proc Natl Acad Sci U S A. 114 (7): 1649–1654. Bibcode:2017PNAS..114.1649M. doi:10.1073/pnas.1621346114. PMC 5320972. PMID 28143939.

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