PORCN - porcupine O-acyltransferase Gene

Also Known as PPN; DHOF; FODH; MG61; PORC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64840

About PORCN

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,508,992-48,520,814 (from NCBI)

This gene has 18 transcripts (splice variants), 267 orthologues, 5 paralogues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 12.6), endometrium (RPKM 5.9) and 23 other tissues.

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 int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in Cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

PORCN Products (23)

mRNA	Protein	Name
XM_047442369.1	XP_047298325.1	protein-serine O-palmitoleoyltransferase porcupine isoform X13
NM_022825.4	NP_073736.2	protein-serine O-palmitoleoyltransferase porcupine isoform A
XM_047442373.1	XP_047298329.1	protein-serine O-palmitoleoyltransferase porcupine isoform X17
XM_047442372.1	XP_047298328.1	protein-serine O-palmitoleoyltransferase porcupine isoform X16
XM_047442364.1	XP_047298320.1	protein-serine O-palmitoleoyltransferase porcupine isoform X8
XM_047442360.1	XP_047298316.1	protein-serine O-palmitoleoyltransferase porcupine isoform X4
XM_047442362.1	XP_047298318.1	protein-serine O-palmitoleoyltransferase porcupine isoform X6
XM_047442357.1	XP_047298313.1	protein-serine O-palmitoleoyltransferase porcupine isoform X1
XM_047442366.1	XP_047298322.1	protein-serine O-palmitoleoyltransferase porcupine isoform X10
NM_203475.3	NP_982301.1	protein-serine O-palmitoleoyltransferase porcupine isoform D
NM_203474.1	NP_982300.1	protein-serine O-palmitoleoyltransferase porcupine isoform C
XM_047442359.1	XP_047298315.1	protein-serine O-palmitoleoyltransferase porcupine isoform X3
XM_047442361.1	XP_047298317.1	protein-serine O-palmitoleoyltransferase porcupine isoform X5
XM_047442363.1	XP_047298319.1	protein-serine O-palmitoleoyltransferase porcupine isoform X7
NM_203473.3	NP_982299.1	protein-serine O-palmitoleoyltransferase porcupine isoform B
XM_047442365.1	XP_047298321.1	protein-serine O-palmitoleoyltransferase porcupine isoform X9
XM_047442358.1	XP_047298314.1	protein-serine O-palmitoleoyltransferase porcupine isoform X2
XM_047442367.1	XP_047298323.1	protein-serine O-palmitoleoyltransferase porcupine isoform X11
XM_047442368.1	XP_047298324.1	protein-serine O-palmitoleoyltransferase porcupine isoform X12
XM_047442371.1	XP_047298327.1	protein-serine O-palmitoleoyltransferase porcupine isoform X15
NM_001282167.2	NP_001269096.1	protein-serine O-palmitoleoyltransferase porcupine isoform F
XM_047442370.1	XP_047298326.1	protein-serine O-palmitoleoyltransferase porcupine isoform X14
NM_203476.1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PORCN Protein Structure

MBOAT

0
100
200
300
400
461 a.a.

Protein Preferred Names	Protein Names
protein-serine O-palmitoleoyltransferase porcupine	porcupine homolog probable protein-cysteine N-palmitoyltransferase porcupine

Related Diseases

Diseases	Alias
Linear Skin Defects With Multiple Congenital Anomalies 1	Midas Syndrome Mls Syndrome Mcops7 Microphthalmia, Syndromic 7 Microphthalmia With Linear Skin Defects Syndrome Microphthalmia With Linear Skin Defects Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome Syndromic Microphthalmia Type 7 LSDMCA1 Mls Microphthalmia, Dermal Aplasia, And Sclerocornea Microphthalmia With Linear Skin Defect Syndrome Syndromic Microphthalmia 7 Linear Skin Defects With Multiple Congenital Anomalies Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome Microphthalmia Dermal Aplasia And Sclerocornea Syndrome Micropthalmia Syndromic 7 Microphthalmia Syndromic 7 Microphthalmia With Linear Skin Lesions Syndrome Syndromic Microphthalmia-7 Microphthalmia, Dermal Aplasia And Sclerocornea Microphthalmia, Syndromic, 7 Midas
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Hernia, Congenital Diaphragmatic 1 Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Mullerian Aplasia And Hyperandrogenism	Mullerian Duct Failure And Hyperandrogenism Wnt4 Deficiency Müllerian Aplasia And Hyperandrogenism Biason-Lauber Syndrome Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome Mayer-Rokitansky-Küster-Hauser-Like Syndrome Müllerian Duct Failure Wnt4 Müllerian Aplasia Wnt4 Müllerian Aplasia And Ovarian Dysfunction MULLAPL Wnt4 Mullerian Aplasia And Ovarian Dysfunction
Angioma Serpiginosum	Angioma Serpiginosum Of Skin Angioma Serpiginosum, X-Linked
Diaphragmatic Eventration
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Colobomatous Microphthalmia	Anophthalmia-Microphthalmia Syndrome Mac Microphthalmia With Colobomatous Cyst Microphthalmia-Anophthalmia-Coloboma Syndrome Microphthalmia-Anophthalmia-Coloboma Microphthalmia And Mental Deficiency
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Syndactyly, Type I Sd1 Zygodactyly Syndactyly, Type 1, With Or Without Craniosynostosis Non-Syndromic Syndactyly Symphalangism Symphalangy Webbing Of Digits Syndactyly, Type 1
Tetraamelia Syndrome	Tetra-Amelia Syndrome Tetraamelia-Multiple Malformations Syndrome Tetra-Amelia Tetra-Amelia, Autosomal Recessive Tetraamelia, Autosomal Recessive Total Amelia Zimmer Phocomelia Tetams Zimmer Taub Sova Syndrome
Orbital Cyst
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Fuhrmann Syndrome Bowing Of The Femurs, Aplasia Or Hypoplasia Of The Fibula, And Digital Anomalies Fibular Hypoplasia Or Aplasia-Femoral Bowing-Oligodactyly Syndrome Fuhrmann-Rieger-De Sousa Syndrome FUHRS Fibular Aplasia Hypoplasia Femoral Bowing And Poly- Syn- And Oligodactyly
Robinow Syndrome	Acral Dysostosis With Facial And Genital Abnormalities Fetal Face Syndrome Robinow Dwarfism Mesomelic Dwarfism-Small Genitalia Syndrome Robinow-Silverman-Smith Syndrome Costovertebral Segmentation Defect With Mesomelia Covesdem Syndrome Robinow'S Syndrome Robinow-Silverman Syndrome
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
X-Linked Monogenic Disease
Adams-Oliver Syndrome	Adams Oliver Syndrome Aos Congenital Scalp Defects With Distal Limb Reduction Anomalies Aplasia Cutis Congenita With Terminal Transverse Limb Defects Congenital Scalp Defects With Distal Limb Anomalies Limb, Scalp And Skull Defects Limb Scalp And Skull Defects Absence Defect Of Limbs, Scalp, And Skull
Diaphragm Disease	Abnormality Of The Diaphragm Disease Of Diaphragm Diaphragmatic Disorder Disorder Of Diaphragm
Focal Dermal Hypoplasia	Goltz Syndrome Goltz-Gorlin Syndrome FDH FODH Dhof Goltz Gorlin Syndrome Hypoplasia, Dermal, Focal
Brachydactyly
Skin Hemangioma	Angioma Of The Skin Angiomatous Naevus Of Skin Hemangioma Of Skin

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Phase
HY-17545	LGK974	Inhibitor	99.96%	Phase 2
HY-18988	ETC-159	Inhibitor	99.13%	Phase 1

Pre-clinical Phase

Bioactive Molecules (18)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13912	IWP-2	Inhibitor	99.93%	Unkown
HY-15659	Wnt-C59	Inhibitor	99.92%	Unkown
HY-15825	IWP L6	Inhibitor	98.71%	Unkown
HY-13912G	IWP-2 (GMP)	Inhibitor	/	Unkown
HY-100536	IWP-3	Inhibitor	98.10%	Unkown
HY-100853	IWP-O1	Inhibitor	99.81%	Unkown
HY-111472	Porcn-IN-1	Inhibitor	99.57%	Unkown
HY-15659G	Wnt-C59 (GMP)	Inhibitor	/	Unkown
HY-107570	IWP-12	Inhibitor	99.53%	Unkown
HY-12879G	IWP-4 (GMP)	Inhibitor	/	Unkown
HY-156551	Porcn-IN-2	Inhibitor	/	Unkown
HY-15825G	IWP L6 (GMP)	Inhibitor	/	Unkown
HY-176488	Y-99	Inhibitor	/	Unkown
HY-P11606	WNT3Ap	Substrate	/	Unkown
HY-RS10881	PORCN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10882	Porcn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10883	Porcn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-164547	WHN-88	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PORCN	VGNC	VGNC:44821
Rattus norvegicus	PORCN	RGD	RGD:1564947
Felis catus	PORCN	VGNC	VGNC:64302
Macaca mulatta	PORCN	VGNC	VGNC:76050
Mus musculus	PORCN	MGD	MGI:1890212
Bos taurus	PORCN	VGNC	VGNC:33170
Others	PORCN	NCBI