Property Summary

NCBI Gene PubMed Count 35
PubMed Score 146.78
PubTator Score 107.44

Knowledge Summary


No data available


Gene RIF (21)

25849925 three distinct members [porcupine (PORCN), hedgehog (Hh) acyltransferase (HHAT) and ghrelin O-acyltransferase (GOAT)] have been shown to acylate specific proteins or peptides.
25451226 the Wnt amino acid residues required for recognition and palmitoylation by PORCN
25026905 We describe the first case of non-mosaic males affected with syndromic microphthalmia because of a non-synonymous variant in the PORCN gene.
24698628 We describe the ophthalmologic findings in an 18-month-old boy with mosaicism of a novel mutation in PORCN.
24647048 porcupine-mediated production of Wnts is context dependent and is not required for all Wnts production, suggesting that alternative mechanisms exist for Wnts production.
23696273 a novel variant in the PORCN gene (c.1250T>C:p.F417S) in the focal dermal hypoplasia with spinal anomaly
23399492 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.
22735390 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.
22509316 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
21472892 review of the published mutations in the PORCN gene and report on 7 new mutations identified in Goltz-Gorlin syndrome patients
20854095 12 novel PORCN mutations and 6 previously reported mutations were found in 53 unrelated focal dermal hypoplasia patients.
20198348 Porcupine might contribute to non-small cell lung carcinoma development by ranscriptional activation of cancer-related genes such as s100P.
19863546 Three de novo mutations were identified in PORCN gene in patients with focal dermal hypoplasia.
19681149 Focal dermal hypoplasia illustrates the phenotypic consequences of defective modulation of Wnt signaling in utero and highlights the important roles of PORCN and Wnt signaling pathways in embryogenesis.
19586929 Mutations within the PORCN gene are associated with Goltz-Gorlin syndrome.
19309688 Molecular characterization of 24 unrelated patients from different ethnic backgrounds revealed 23 different mutations of the PORCN gene in Xp11.23.
19277062 defective PORCN does not lead to selective growth disadvantage
18325042 3 novel mutations in PORCN, c.373+1G>A, c.737_738insA & c.1094G>A (p.R365Q), were identified in focal dermal hypoplasia patients(FDH); study shows PORCN is gene responsible for FDH in different populations & extends number of confirmed mutations to 26
18193088 Overexpression of PORCN is associated with lung cancer
17546031 PORCN, encoding a putative O-acyltransferase potentially crucial for cellular export of Wnt signaling proteins, is the gene mutated in focal dermal hypoplasia.
17546030 Sequence deletions and point mutations cause focal dermal hypoplasia.

AA Sequence

VDDTTEEQGYGMAYTVHKWSELSWASHWVTFGCWIFYRLIG                                 421 - 461

Text Mined References (35)

PMID Year Title
25849925 2015 Membrane bound O-acyltransferases and their inhibitors.
25451226 2014 Identification of the WNT1 residues required for palmitoylation by Porcupine.
25026905 2015 Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
24698628 2014 Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia.
24647048 2014 Porcupine is not required for the production of the majority of Wnts from primary human astrocytes and CD8+ T cells.
24292069 2014 Single-cell imaging of Wnt palmitoylation by the acyltransferase porcupine.
23696273 2013 Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
23547709 2013 The Wnt signalling pathway is upregulated in an in vitro model of acquired tamoxifen resistant breast cancer.
23399492 Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients.
23188502 2013 Pharmacological inhibition of the Wnt acyltransferase PORCN prevents growth of WNT-driven mammary cancer.
23131169 Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.
22923569 2012 Cell biology. The unusual case of Porcupine.
22888000 2012 Precise regulation of porcupine activity is required for physiological Wnt signaling.
22735390 2013 A case of almost unilateral focal dermal hypoplasia resulting from a novel mutation in the PORCN gene.
22509316 2012 PORCN moonlights in a Wnt-independent pathway that regulates cancer cell proliferation.
21472892 2011 Mutation update for the PORCN gene.
20854095 2010 PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.
20826466 2010 WLS-dependent secretion of WNT3A requires Ser209 acylation and vacuolar acidification.
20198348 2010 Porcupine expression is associated with the expression of S100P and other cancer-related molecules in non-small cell lung carcinoma.
19863546 2009 Novel PORCN mutations in focal dermal hypoplasia.
19681149 2009 Importance of PORCN and Wnt signaling pathways in embryogenesis.
19586929 2009 Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.
19309688 2009 PORCN mutations in focal dermal hypoplasia: coping with lethality.
19277062 2009 Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
18325042 2008 Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.
18193088 2008 Suppression of PPN/MG61 attenuates Wnt/beta-catenin signaling pathway and induces apoptosis in human lung cancer.
17546031 2007 Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
17546030 2007 Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12034504 2002 Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine.
10866835 2000 The evolutionarily conserved porcupine gene family is involved in the processing of the Wnt family.