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{{protein
{{infobox protein
|name=porcupine homolog (Drosophila)
|name=porcupine homolog (Drosophila)
|caption=
|caption=
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|LocusSupplementaryData=
|LocusSupplementaryData=
}}
}}
{{SI}}
'''PORCN''' (porcupine homolog – Drosophila) is a human [[gene]].<ref name="pmid10866835">{{cite journal | author = Tanaka K, Okabayashi K, Asashima M, [[Perrimon N]], Kadowaki T | title = The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family | journal = Eur. J. Biochem. | volume = 267 | issue = 13 | pages = 4300–11 |date=July 2000 | pmid = 10866835 | doi = 10.1046/j.1432-1033.2000.01478.x | url =  }}</ref><ref name="pmid12034504">{{cite journal |vauthors=Caricasole A, Ferraro T, Rimland JM, Terstappen GC | title = Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine | journal = Gene | volume = 288 | issue = 1–2 | pages = 147–57 |date=April 2002 | pmid = 12034504 | doi = 10.1016/S0378-1119(02)00467-5  | url =  }}</ref>
The protein is homologous to other [[mBOAT|membrane-bound O-acyltransferases]].


==Function==
The [[protein]] encoded by this gene is an [[endoplasmic reticulum]] transmembrane protein involved in processing of [[Wnt signaling pathway|wingless proteins]] such as [[WNT7A]].<ref name="pmid12034504"/>
==Clinical significance==
Mutations in this gene are associated with [[focal dermal hypoplasia]].<ref name="pmid17546030">{{cite journal  |vauthors=Wang X, Reid Sutton V, Omar Peraza-Llanes J, etal |title=Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia |journal=Nat. Genet. |volume=39 |issue=7 |pages=836–8 |date=July 2007 |pmid=17546030 |doi=10.1038/ng2057}}</ref>
{{Clear}}
Mutations in PORCN are associated to {{SWL|type=mutations_associated_to|target=Goltz-Gorlin syndrome|label=Goltz-Gorlin syndrome}}.<ref>{{Cite journal
| pmid = 25026905
| year = 2014
| author1 = Brady
| first1 = P. D.
| title = Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia
| journal = European Journal of Human Genetics
| last2 = Van Esch
| first2 = H
| last3 = Fieremans
| first3 = N
| last4 = Froyen
| first4 = G
| last5 = Slavotinek
| first5 = A
| last6 = Deprest
| first6 = J
| last7 = Devriendt
| first7 = K
| last8 = Vermeesch
| first8 = J. R.
| doi = 10.1038/ejhg.2014.135
| volume=23
| pages=551–4
| pmc=4666577
}}</ref>
==Ligands==
===Inhibitors===
* [[WNT974]] (LGK-974) - 1243244-14-5, researched for anti-cancer effects in Wnt-pathway sensitive tumours.<ref>{{cite journal | vauthors = Boone JD, Arend RC, Johnston BE, Cooper SJ, Gilchrist SA, Oelschlager DK, Grizzle WE, McGwin G Jr, Gangrade A, Straughn JM Jr, Buchsbaum DJ | date = Feb 2016 | title = Targeting the Wnt/β-catenin pathway in primary ovarian cancer with the porcupine inhibitor WNT974 | url = | journal = Lab Invest | volume = 96 | issue = 2| pages = 249–59 | doi = 10.1038/labinvest.2015.150 | pmid = 26658453 }}</ref> Also investigated for influencing cardiac tissue remodelling following infarction.<ref>{{cite journal | vauthors = Moon J ''et al'' | year = 2017 | title = Blockade to Pathological Remodeling of Infarcted Heart Tissue Using a Porcupine Antagonist | journal = Proc Natl Acad Sci U S A | volume =  114| issue = | pages =  1649–1654| doi = 10.1073/pnas.1621346114 | pmid = 28143939 | pmc=5320972}}</ref>


'''PORCN''' (porcupine homolog – Drosophila) is a human [[gene]].<ref name="pmid10866835">{{cite journal | author = Tanaka K, Okabayashi K, Asashima M, Perrimon N, Kadowaki T | title = The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family | journal = Eur. J. Biochem. | volume = 267 | issue = 13 | pages = 4300–11 | year = 2000 | month = July | pmid = 10866835 | doi = 10.1046/j.1432-1033.2000.01478.x | url = | issn = }}</ref><ref name="pmid12034504">{{cite journal | author = Caricasole A, Ferraro T, Rimland JM, Terstappen GC | title = Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine | journal = Gene | volume = 288 | issue = 1-2 | pages = 147–57 | year = 2002 | month = April | pmid = 12034504 | doi = 10.1016/S0378-1119(02)00467-5  | url = | issn = }}</ref>
IWP (1-4)


==Function==
RXC004
The [[protein]] encoded by this gene an [[endoplasmic reticulum]] transmembrane protein involved in processing of [[Wnt signaling pathway|wingless proteins]] such as [[WNT7A]].<ref name="pmid12034504"/>


==Disease linkage==
Mutations in this gene are associated with [[focal dermal hypoplasia]].<ref name="pmid17546030">{{cite journal |author=Wang X, Reid Sutton V, Omar Peraza-Llanes J, ''et al'' |title=Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia |journal=Nat. Genet. |volume=39 |issue=7 |pages=836–8 |year=2007 |month=July |pmid=17546030 |doi=10.1038/ng2057 |url=http://dx.doi.org/10.1038/ng2057}}</ref>
{{-}}
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}




 
{{gene-X-stub}}
 
{{WH}}
{{WS}}

Revision as of 20:27, 5 October 2017

porcupine homolog (Drosophila)
Identifiers
SymbolPORCN
Entrez64840
HUGO17652
OMIM300651
RefSeqNM_022825
UniProtQ9H237
Other data
LocusChr. X p11.23

PORCN (porcupine homolog – Drosophila) is a human gene.[1][2] 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.[2]

Clinical significance

Mutations in this gene are associated with focal dermal hypoplasia.[3]

Mutations in PORCN are associated to Goltz-Gorlin syndrome .[4]

Ligands

Inhibitors

  • WNT974 (LGK-974) - 1243244-14-5, researched for anti-cancer effects in Wnt-pathway sensitive tumours.[5] Also investigated for influencing cardiac tissue remodelling following infarction.[6]

IWP (1-4)

RXC004

References

  1. ↑ 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". Eur. J. Biochem. 267 (13): 4300–11. doi:10.1046/j.1432-1033.2000.01478.x. PMID 10866835.
  2. ↑ 2.0 2.1 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.
  3. ↑ 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.
  4. ↑ Brady, P. D.; Van Esch, H; Fieremans, N; Froyen, G; Slavotinek, A; Deprest, J; Devriendt, K; Vermeesch, J. R. (2014). "Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia". European Journal of Human Genetics. 23: 551–4. doi:10.1038/ejhg.2014.135. PMC 4666577. PMID 25026905.
  5. ↑ 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.
  6. ↑ 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.


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