PORCN

PORCN (porcupine homolog – Drosophila) is a human gene.[5][6] The protein is homologous to other membrane-bound O-acyltransferases.

PORCN
Identifiers
AliasesPORCN, DHOF, FODH, MG61, PORC, PPN, porcupine homolog (Drosophila), porcupine O-acyltransferase
External IDsOMIM: 300651 MGI: 1890212 HomoloGene: 41529 GeneCards: PORCN
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp11.23Start48,508,962 bp[1]
End48,520,814 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

64840

53627

Ensembl

ENSG00000102312

ENSMUSG00000031169

UniProt

Q9H237

Q9JJJ7

RefSeq (mRNA)

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 MbChr X: 8.19 – 8.21 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  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.
  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.


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