anti-Porcupine Homolog (Drosophila) (PORCN) Antibodies

Fruit Fly (Drosophila melanogaster) Porcupine Homolog (Drosophila) (PORCN) interaction partners

1. Por-mediated lipidation of the S239-equivalent residue is essential for the interaction with, and secretion by, Wls.

2. stimulates the posttranslational N-glycosylation of wingless in the endoplasmic reticulum

3. WntD, a recently characterized Drosophila Wnt family member, does not require Porcupine or Wntless/Evi/Sprinter for its secretion or signaling activity

4. Role of the porcupine gene in the development of the wing imaginal disk of Drosophila melanogaster

Human Porcupine Homolog (Drosophila) (PORCN) interaction partners

1. Together, these results provide discrete, high-resolution biochemical insights into the mechanism of PORCN-mediated Wnt acylation and pave the way for further detailed biochemical and structural studies.

2. Case Report: mosaicism for PORCN mutations in focal dermal hypoplasia (Goltz Syndrome).

3. Data suggest that PORCN exhibits substrate specificity that includes a Wnt3a peptide fragment (residues 199-219, with disulfide bonds); recombinant PORCN containing a point mutation (R228C) associated with focal dermal hypoplasia exhibits impaired acylation activity toward Wnt3a peptide fragment. (PORCN = porcupine O-acyltransferase; Wnt3a = Wnt family member 3A)

4. Inhibition of Wnt signaling by PORCN inhibition holds promise as differentiation therapy in genetically defined human cancers

5. three distinct members [porcupine (PORCN), hedgehog (Hh) acyltransferase (HHAT) and ghrelin O-acyltransferase (GOAT)] have been shown to acylate specific proteins or peptides.

6. porcupine-mediated production of Wnts is context dependent and is not required for all Wnts production, suggesting that alternative mechanisms exist for Wnts production.

7. We describe the first case of non-mosaic males affected with syndromic microphthalmia because of a non-synonymous variant in the PORCN gene.

8. the Wnt amino acid residues required for recognition and palmitoylation by PORCN

9. We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN.

10. a novel variant in the PORCN gene (c.1250T>C:p.F417S) in the focal dermal hypoplasia with spinal anomaly

11. We report a typical focal dermal hypoplasia (FDH) patient with a recurrent PORCN mutation, which was previously identified, and a second female, with an almost unilateral FDH and a novel postzygotic PORCN mutation.

12. To the best of our knowledge, this is the second case report that reveals a mutation of the PORCN gene in a patient with almost unilateral focal dermal hypoplasia.

13. PORCN protein thus appears to moonlight in a novel signaling pathway that is rate-limiting for cancer cell growth and tumorigenesis independent of its enzymatic function in Wnt biosynthesis and secretion

14. review of the published mutations in the PORCN gene and report on 7 new mutations identified in Goltz-Gorlin syndrome patients

15. 12 novel PORCN mutations and 6 previously reported mutations were found in 53 unrelated focal dermal hypoplasia patients.

16. Porcupine might contribute to non-small cell lung carcinoma development by ranscriptional activation of cancer-related genes such as s100P.

17. Three de novo mutations were identified in PORCN gene in patients with focal dermal hypoplasia.

18. Sequence deletions and point mutations cause focal dermal hypoplasia.

19. PORCN, encoding a putative O-acyltransferase potentially crucial for cellular export of Wnt signaling proteins, is the gene mutated in focal dermal hypoplasia.

20. Overexpression of PORCN is associated with lung cancer

Mouse (Murine) Porcupine Homolog (Drosophila) (PORCN) interaction partners

1. Porcn mosaicism results in reduced fertility.

2. This study showed that postnatal ablation of Porcupine in the uterine luminal epithelium alone results in the decrease in endometrial gland number; mutant females are completely infertile.

3. Data suggest that PORCN exhibits substrate specificity that includes a Wnt3a peptide fragment (residues 199-219, with disulfide bonds); recombinant PORCN containing a point mutation (R228C) associated with focal dermal hypoplasia exhibits impaired acylation activity toward Wnt3a peptide fragment. (PORCN = porcupine O-acyltransferase; Wnt3a = Wnt family member 3A)

4. Porcupine-dependent Wnt signaling, unlike previously reported, is dispensable for postnatal gland formation but is required for post-pubertal gland maintenance as well as for stromal cell proliferation.

5. Overexpression of PORCN enhances the ability of WLS to promote WNT1 trafficking to the cell surface as well as secretion, but decreases the ability of WLS to activate WNT1 signaling in target cell.

6. Inhibition of porcupine abrogates kidney fibrosis not only by overcoming the redundancy of individual Wnt isoforms but also by preventing upstream cytokine-induced Wnt generation.

7. Conditional PORCN knockout mice exhibit specific changes in AMPAR expression and gating that reduce basal synaptic transmission but leave long-term potentiation intact.

8. Porcn is required in both extraocular and neuroectodermal tissues to regulate distinct Wnt-dependent processes during morphogenesis of the posterior and anterior segments of the eye

9. Residues in predicted transmembrane domain 9 within Porcupine are essential for palmitoleoylation.

10. Data show bronchopneumonia, rhinitis, and otitis media, suggesting a potential link between Porcn function and the normal development of ciliated cells.

11. Studies highlight the importance of Wnt3 and Wnt7b for embryonic and placental development but suggest that endogenous Porcn-dependent Wnt secretion does not play an essential role in either implantation or blastocyst lineage specification.

12. an essential regulatory role of PORCN in shaping Wnt signaling gradients.

13. Porcn inactivation in the mouse produces a model for human FDH and that phenotypic features result from defective WNT signaling in ectodermal- and mesenchymal-derived structures.

14. Data show that conditional deletion of Porcn provides an experimental model of FDH, as well as a valuable tool to probe Wnt ligand function in vivo.

15. Porcupine homolog is required for canonical Wnt signaling and gastrulation in mouse embryos.