1. Gene
  2. PORCN - porcupine O-acyltransferase Gene

PORCN - porcupine O-acyltransferase Gene

Homo sapiens

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

Gene ID: 64840 | Gene type: protein coding

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

PORCN Protein Structure

MBOAT

MBOAT: MBOAT, membrane-bound O-acyltransferase family (117 - 401)

  • 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

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