Property Summary

NCBI Gene PubMed Count 35
Grant Count 35
R01 Count 13
Funding $4,203,531.3
PubMed Score 146.78
PubTator Score 107.44

Knowledge Summary

Patent

No data available

Expression

Gene RIF (21)

PMID Text
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
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AA Sequence

MATFSRQEFFQQLLQGCLLPTAQQGLDQIWLLLAICLACRLLWRLGLPSYLKHASTVAGGFFSLYHFFQL      1 - 70
HMVWVVLLSLLCYLVLFLCRHSSHRGVFLSVTILIYLLMGEMHMVDTVTWHKMRGAQMIVAMKAVSLGFD     71 - 140
LDRGEVGTVPSPVEFMGYLYFVGTIVFGPWISFHSYLQAVQGRPLSCRWLQKVARSLALALLCLVLSTCV    141 - 210
GPYLFPYFIPLNGDRLLRNKKRKARGTMVRWLRAYESAVSFHFSNYFVGFLSEATATLAGAGFTEEKDHL    211 - 280
EWDLTVSKPLNVELPRSMVEVVTSWNLPMSYWLNNYVFKNALRLGTFSAVLVTYAASALLHGFSFHLAAV    281 - 350
LLSLAFITYVEHVLRKRLARILSACVLSKRCPPDCSHQHRLGLGVRALNLLFGALAIFHLAYLGSLFDVD    351 - 420
VDDTTEEQGYGMAYTVHKWSELSWASHWVTFGCWIFYRLIG                                 421 - 461
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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.
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