PORCN

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
Gene location (Human)
Chr.	X chromosome (human)[1]
End	48,520,814 bp[1]
Gene location (Mouse)
Chr.	X chromosome (mouse)[2]
End	8,206,525 bp[2]
Gene ontology
Molecular function	• transferase activity; • Wnt-protein binding; • transferase activity, transferring acyl groups; • 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
	64840
	53627
	ENSG00000102312
	ENSMUSG00000031169
	Q9H237
	Q9JJJ7
NM_001282167; NM_022825; NM_203473; NM_203474; NM_203475;
	NM_203476
	NM_016913; NM_023638; NM_145907; NM_145908; NM_001308474
	NP_001269096; NP_073736; NP_982299; NP_982300; NP_982301
	NP_001295403; NP_058609; NP_076127; NP_665914; NP_665915
	Wikidata
View/Edit Human	View/Edit Mouse

PORCN (porcupine homolog – Drosophila) is a human gene.[5][6] 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.[6]

Clinical significance

Mutations in this gene are associated with focal dermal hypoplasia.[7]

Mutations in PORCN are associated to Goltz-Gorlin syndrome.[8]

Ligands

Inhibitors

WNT974 (LGK-974) - 1243244-14-5, researched for anti-cancer effects in Wnt-pathway sensitive tumours.[9] Also investigated for influencing cardiac tissue remodelling following infarction.[10]

IWP (1-4)

RXC004

References

GRCh38: Ensembl release 89: ENSG00000102312 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000031169 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
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.
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.
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.
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: 1649–1654. doi:10.1073/pnas.1621346114. PMC 5320972. PMID 28143939.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000102312 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10866835-5] 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.

[pmid12034504-6] 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.

[pmid17546030-7] 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.

[pmid25026905-8] 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: 1649–1654. doi:10.1073/pnas.1621346114. PMC 5320972. PMID 28143939.