Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64840
Gene name	Porcupine O-acyltransferase
Gene symbol	PORCN
Synonyms (NCBI Gene)	DHOFFODHMG61PORCPPN
Chromosome	X
Chromosome location	Xp11.23
Summary	This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852218	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852219	G>A	Pathogenic	Coding sequence variant, stop gained
rs267606973	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs387906723	G>A	Pathogenic	Missense variant, coding sequence variant
rs398124617	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587776737	->CCTGGCTTTTATC	Pathogenic	Frameshift variant, coding sequence variant
rs1057517951	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057519006	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524593	A>C	Pathogenic	Splice acceptor variant
rs1064795419	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307706	->TGG	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1114167283	C>T	Pathogenic	Coding sequence variant, stop gained
rs1556974682	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556974804	CGGTGTCCAAGCCACTGA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1556975151	T>A	Pathogenic	Splice donor variant
rs1569477854	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1602070472	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602070594	G>A	Likely-pathogenic	Splice donor variant
rs1602078393	T>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023034	hsa-miR-124-3p	Microarray	18668037
MIRT529240	hsa-miR-3650	PAR-CLIP	22012620
MIRT529239	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT529238	hsa-miR-8070	PAR-CLIP	22012620
MIRT529237	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT529236	hsa-miR-147a	PAR-CLIP	22012620
MIRT529235	hsa-miR-2113	PAR-CLIP	22012620
MIRT529234	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT529233	hsa-miR-4455	PAR-CLIP	22012620
MIRT529232	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT529236	hsa-miR-147a	HITS-CLIP	27418678
MIRT529235	hsa-miR-2113	HITS-CLIP	27418678
MIRT529233	hsa-miR-4455	HITS-CLIP	27418678
MIRT529234	hsa-miR-5010-3p	HITS-CLIP	27418678
MIRT529232	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT529237	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT529239	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT529240	hsa-miR-3650	PAR-CLIP	22012620
MIRT529239	hsa-miR-6867-5p	PAR-CLIP	22012620
MIRT529238	hsa-miR-8070	PAR-CLIP	22012620
MIRT529237	hsa-miR-6818-5p	PAR-CLIP	22012620
MIRT529236	hsa-miR-147a	PAR-CLIP	22012620
MIRT529235	hsa-miR-2113	PAR-CLIP	22012620
MIRT529234	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT529233	hsa-miR-4455	PAR-CLIP	22012620
MIRT529232	hsa-miR-574-5p	PAR-CLIP	22012620
MIRT1250274	hsa-miR-3647-3p	CLIP-seq
MIRT1250275	hsa-miR-522	CLIP-seq
MIRT2392851	hsa-miR-147	CLIP-seq
MIRT2392852	hsa-miR-599	CLIP-seq
MIRT2597586	hsa-miR-1275	CLIP-seq
MIRT2392851	hsa-miR-147	CLIP-seq
MIRT2597587	hsa-miR-2392	CLIP-seq
MIRT2597588	hsa-miR-3147	CLIP-seq
MIRT1250274	hsa-miR-3647-3p	CLIP-seq
MIRT2597589	hsa-miR-4425	CLIP-seq
MIRT2597590	hsa-miR-4534	CLIP-seq
MIRT2597591	hsa-miR-4665-5p	CLIP-seq
MIRT2597592	hsa-miR-4802-5p	CLIP-seq
MIRT1250275	hsa-miR-522	CLIP-seq
MIRT2392852	hsa-miR-599	CLIP-seq
MIRT2597586	hsa-miR-1275	CLIP-seq
MIRT2392851	hsa-miR-147	CLIP-seq
MIRT2597587	hsa-miR-2392	CLIP-seq
MIRT2597588	hsa-miR-3147	CLIP-seq
MIRT1250274	hsa-miR-3647-3p	CLIP-seq
MIRT2597589	hsa-miR-4425	CLIP-seq
MIRT2597590	hsa-miR-4534	CLIP-seq
MIRT2597591	hsa-miR-4665-5p	CLIP-seq
MIRT2597592	hsa-miR-4802-5p	CLIP-seq
MIRT1250275	hsa-miR-522	CLIP-seq
MIRT2392852	hsa-miR-599	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006497	Process	Protein lipidation	ISS
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016055	Process	Wnt signaling pathway	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0017147	Function	Wnt-protein binding	IBA
GO:0017147	Function	Wnt-protein binding	IEA
GO:0030258	Process	Lipid modification	IBA
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0045234	Process	Protein palmitoleylation	ISS
GO:0061355	Process	Wnt protein secretion	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:1990698	Function	Palmitoleoyltransferase activity	IBA
GO:1990698	Function	Palmitoleoyltransferase activity	IEA
GO:1990698	Function	Palmitoleoyltransferase activity	ISS

MIM	HGNC	e!Ensembl
300651	17652	ENSG00000102312

Q9H237

Protein name

Protein-serine O-palmitoleoyltransferase porcupine (EC 2.3.1.250) (Protein MG61)

Protein function

Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1(9Z)), to Wnt proteins. Serine palmitoleoylation of WNT

PDB

7URA , 7URC , 7URD , 7URE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03062	MBOAT	60 → 371	MBOAT, membrane-bound O-acyltransferase family	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is expressed in fetal brain, brain, amygdala, caudate nucleus, cerebellum, hippocampus, pituitary, thalamus, heart, skeletal muscle and testis. Isoform 4 is expressed in amygdala, corpus callosum, hippocampus, spinal cord, ki

Sequence

MATFSRQEFFQQLLQGCLLPTAQQGLDQIWLLLAICLACRLLWRLGLPSYLKHASTVAGG
FFSLYHFFQLHMVWVVLLSLLCYLVLFLCRHSSHRGVFLSVTILIYLLMGEMHMVDTVTW
HKMRGAQMIVAMKAVSLGFDLDRGEVGTVPSPVEFMGYLYFVGTIVFGPWISFHSYLQAV
QGRPLSCRWLQKVARSLALALLCLVLSTCVGPYLFPYFIPLNGDRLLRNKKRKARGTMVR
WLRAYESAVSFHFSNYFVGFLSEATATLAGAGFTEEKDHLEWDLTVSKPLNVELPRSMVE
VVTSWNLPMSYWLNNYVFKNALRLGTFSAVLVTYAASALLHGFSFHLAAVLLSLAFITYV
EHVLRKRLARILSACVLSKRCPPDCSHQHRLGLGVRALNLLFGALAIFHLAYLGSLFDVD
VDDTTEEQGYGMAYTVHKWSELSWASHWVTFGCWIFYRLIG

Sequence length

461

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway		WNT ligand secretion is abrogated by the PORCN inhibitor LGK974

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Anophthalmia-microphthalmia syndrome	Pathogenic	rs267606973	RCV003483430
Focal dermal hypoplasia	Likely pathogenic; Pathogenic	rs2147130188, rs2147123496, rs2147131642, rs2147139830, rs2519467926, rs2519447958, rs1114167283, rs2519442928, rs2519481658, rs587776737, rs267606973, rs137852218, rs137852219, rs1602072227, rs2519471074 View all (11 more)	RCV001726710 RCV001766049 RCV001784874 RCV001823429 RCV003147767 RCV002468767 RCV000491111 RCV003228718 RCV003228729 RCV000011446 RCV000011447 RCV000011448 RCV000011449 RCV003397201 RCV003397202 RCV003444073 RCV003455823 RCV000414798 RCV000664204 RCV000853254 RCV001095366 RCV001004914 RCV001028047 RCV001264757 RCV000022872 RCV001293723
Global developmental delay	Pathogenic	rs2519454937	RCV001255387
Nonpapillary renal cell carcinoma	Pathogenic	rs137852218, rs1602072227	RCV005887429 RCV005932754
PORCN-related disorder	Pathogenic; Likely pathogenic	rs2519455254, rs2519511864, rs2519481658	RCV003404466 RCV003896945 RCV003971621
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1602070594	RCV005912403

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs111771187	RCV005921692
History of neurodevelopmental disorder	Likely benign	rs375894841	RCV000721075
Thymoma	Benign	rs111771187	RCV005921694
Uterine carcinosarcoma	Benign	rs111771187	RCV005921693
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	rs200263603	RCV005889856

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Renal Cell	Associate	32104684
Developmental Disabilities	Associate	35101074
Drug Resistant Epilepsy	Associate	35101074
Focal Dermal Hypoplasia	Associate	19277062, 24698628, 25026905, 25040319, 25464842, 30693654, 33557041, 35101074, 36313953, 37859990
Gliosis	Associate	35101074
Kidney Neoplasms	Associate	32104684
Microcephaly	Associate	35101074
Microphthalmos	Associate	25026905
Multiple Sclerosis	Associate	35905688
Nakamura Osame syndrome	Associate	35101074
Neoplasm Metastasis	Associate	32307642
Neoplasms	Inhibit	35040131
Neoplasms	Associate	37859990
Pancreatic Neoplasms	Associate	35536676
Skin Abnormalities	Associate	35101074
Thyroid Neoplasms	Associate	37859990

PORCN (porcupine O-acyltransferase)