PORCN: Difference between revisions

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|LocusSupplementaryData=
|LocusSupplementaryData=
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'''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>
'''PORCN''' (porcupine homolog – Drosophila) is a human [[gene]].<ref name="pmid10866835">{{cite journal | vauthors = 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 = European Journal of Biochemistry | volume = 267 | issue = 13 | pages = 4300–11 | date = July 2000 | pmid = 10866835 | doi = 10.1046/j.1432-1033.2000.01478.x }}</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]].
The protein is homologous to other [[mBOAT|membrane-bound O-acyltransferases]].


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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>
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}}
{{Clear}}
Mutations in PORCN are associated to {{SWL|type=mutations_associated_to|target=Goltz-Gorlin syndrome|label=Goltz-Gorlin syndrome}}.<ref>{{Cite journal
Mutations in PORCN are associated to {{SWL|type=mutations_associated_to|target=Goltz-Gorlin syndrome|label=Goltz-Gorlin syndrome}}.<ref name="pmid25026905">{{cite journal | vauthors = Brady PD, Van Esch H, Fieremans N, Froyen G, Slavotinek A, Deprest J, Devriendt K, Vermeesch JR | title = Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia | journal = European Journal of Human Genetics : EJHG | volume = 23 | issue = 4 | pages = 551–4 | date = April 2015 | pmid = 25026905 | pmc = 4666577 | doi = 10.1038/ejhg.2014.135 }}</ref>
| 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==
==Ligands==
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==References==
==References==
{{Reflist|2}}
{{Reflist|35em}}




{{gene-X-stub}}
{{gene-X-stub}}

Latest revision as of 14:13, 21 March 2018

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". European Journal of Biochemistry. 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 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 : EJHG. 23 (4): 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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