PORCN

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

PORCN
Identifiers
Aliases	PORCN, DHOF, FODH, MG61, PORC, PPN, porcupine homolog (Drosophila), porcupine O-acyltransferase
External IDs	OMIM: 300651; MGI: 1890212; HomoloGene: 41529; GeneCards: PORCN; OMA:PORCN - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp11.23 Start 48,508,959 bp[1] End 48,520,814 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X A1.1|X 3.7 cM Start 8,060,087 bp[2] End 8,072,764 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left adrenal cortex right hemisphere of cerebellum right frontal lobe stromal cell of endometrium anterior cingulate cortex right auricle of heart prefrontal cortex granulocyte apex of heart Top expressed in primary visual cortex dentate gyrus of hippocampal formation granule cell esophagus superior frontal gyrus cerebellar cortex neural layer of retina morula lip urethra muscle of thigh More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity Wnt-protein binding acyltransferase activity palmitoleoyltransferase activity Cellular component integral component of membrane integral component of endoplasmic reticulum membrane AMPA glutamate receptor complex endoplasmic reticulum membrane endoplasmic reticulum membrane glutamatergic synapse Biological process canonical Wnt signaling pathway protein lipidation glycoprotein metabolic process Wnt signaling pathway protein palmitoleylation regulation of postsynaptic membrane neurotransmitter receptor levels Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64840 53627 Ensembl ENSG00000102312 ENSMUSG00000031169 UniProt Q9H237 Q9JJJ7 RefSeq (mRNA) NM_001282167 NM_022825 NM_203473 NM_203474 NM_203475 NM_203476 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 Mb Chr X: 8.06 – 8.07 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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