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Aliases for PORCN Gene

Aliases for PORCN Gene

  • Porcupine Homolog (Drosophila) 2 3 5
  • PORC 3 4
  • MG61 3 4
  • PPN 3 4
  • Probable Protein-Cysteine N-Palmitoyltransferase Porcupine 3
  • Protein-Serine O-Palmitoleoyltransferase Porcupine 3
  • Dermal Hypoplasia, Focal 2
  • Protein MG61 4
  • EC 2.3.1.- 4
  • FODH 3
  • DHOF 3

External Ids for PORCN Gene

Previous HGNC Symbols for PORCN Gene

  • DHOF

Previous GeneCards Identifiers for PORCN Gene

  • GC0XP047414
  • GC0XP048123
  • GC0XP048262
  • GC0XP048367
  • GC0XP046031

Summaries for PORCN Gene

Entrez Gene Summary for PORCN Gene

  • 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]

GeneCards Summary for PORCN Gene

PORCN (Porcupine Homolog (Drosophila)) is a Protein Coding gene. Diseases associated with PORCN include Focal Dermal Hypoplasia and Focal Facial Dermal Dysplasia. Among its related pathways are HIV Life Cycle and Wnt Signaling Pathway and Pluripotency. GO annotations related to this gene include transferase activity, transferring acyl groups and palmitoleoyltransferase activity.

UniProtKB/Swiss-Prot for PORCN Gene

  • 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), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors.

Tocris Summary for PORCN Gene

  • Porcupine (PORCN) is a membrane bound O-acyltransferase (MBOAT) that is involved in the acylation (palmitoylation) of Wnt proteins. Palmitoylation is essential for Wnt secretion and signaling, with PORCN inhibitors showing efficacy in inhibiting Wnt-driven tumorigenesis.

No data available for Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PORCN Gene

Genomics for PORCN Gene

Regulatory Elements for PORCN Gene

Enhancers for PORCN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF048485 1.4 FANTOM5 Ensembl ENCODE 20.2 -20.6 -20567 6.0 HDAC1 KLF1 ESRRA TAF1 ETV1 ZNF121 POLR2A RCOR1 ZNF548 ZSCAN29 FTSJ1 ENSG00000204620 PORCN ZNF81 EBP ENSG00000270012 ENSG00000228343 SLC38A5 ZNF630 RBM3
GH0XF048538 1 ENCODE 12.8 +31.0 30950 3.3 HDGF PKNOX1 ATF1 ARID4B SIN3A FEZF1 DMAP1 BRCA1 ZNF2 YY1 TBC1D25 ENSG00000204620 RBM3 RN7SL262P LOC101927635 PORCN FTSJ1 ZNF630 ENSG00000228343 ZNF182
GH0XF048548 0.7 ENCODE 12.8 +40.1 40064 1.0 SOX13 SOX5 TEAD1 CEBPG THRB PPARG RARA TEAD3 NR2F6 SMAD4 RBM3 ENSG00000204620 PORCN LOC101927635 EBP FTSJ1 TBC1D25 GC0XP048563
GH0XF048551 0.2 Ensembl 13 +41.3 41342 0.2 PORCN LOC101927635 EBP TBC1D25 GC0XP048563
GH0XF048491 1.3 FANTOM5 Ensembl ENCODE 1.6 -16.3 -16285 1.7 SMARCE1 RNF2 NR2F1 JUN JUNB DPF2 ZBTB7A NR2F2 ARID1B JUND SLC38A5 EBP RBM3 WAS PORCN OTUD5 GC0XP048480 LOC101927635
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PORCN on UCSC Golden Path with GeneCards custom track

Promoters for PORCN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000478371 41 2001 TBP HDAC1 ATF1 SIN3A ZBTB40 GLIS2 EGR1 ZNF366 CREM EGR2

Genomic Location for PORCN Gene

Chromosome:
X
Start:
48,508,959 bp from pter
End:
48,520,814 bp from pter
Size:
11,856 bases
Orientation:
Plus strand

Genomic View for PORCN Gene

Genes around PORCN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PORCN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PORCN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PORCN Gene

Proteins for PORCN Gene

  • Protein details for PORCN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H237-PORCN_HUMAN
    Recommended name:
    Protein-serine O-palmitoleoyltransferase porcupine
    Protein Accession:
    Q9H237
    Secondary Accessions:
    • B2RBN8
    • B7ZAR3
    • Q14829
    • Q9H234
    • Q9H235
    • Q9H236
    • Q9UJU7

    Protein attributes for PORCN Gene

    Size:
    461 amino acids
    Molecular mass:
    52318 Da
    Quaternary structure:
    • Interacts with WNT1, WNT3, WNT3A, WNT4, WNT5A, WNT5B, WNT6, WNT7A and WNT7B.
    SequenceCaution:
    • Sequence=AAA74510.1; Type=Miscellaneous discrepancy; Note=The sequence differs from that shown upstream of position 63 for unknown reasons.; Evidence={ECO:0000305};

    Alternative splice isoforms for PORCN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PORCN Gene

Post-translational modifications for PORCN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PORCN Gene

Domains & Families for PORCN Gene

Protein Domains for PORCN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PORCN Gene

Graphical View of Domain Structure for InterPro Entry

Q9H237

UniProtKB/Swiss-Prot:

PORCN_HUMAN :
  • Belongs to the membrane-bound acyltransferase family. Porcupine subfamily.
Family:
  • Belongs to the membrane-bound acyltransferase family. Porcupine subfamily.
genes like me logo Genes that share domains with PORCN: view

No data available for Gene Families for PORCN Gene

Function for PORCN Gene

Molecular function for PORCN Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(9Z)-hexadecenoyl-CoA + [Wnt]-L-serine = CoA + [Wnt]-O-(9Z)-hexadecenoyl-L-serine.
UniProtKB/Swiss-Prot 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), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors.

Enzyme Numbers (IUBMB) for PORCN Gene

Gene Ontology (GO) - Molecular Function for PORCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0017147 Wnt-protein binding IEA --
GO:1990698 palmitoleoyltransferase activity ISS --
genes like me logo Genes that share ontologies with PORCN: view
genes like me logo Genes that share phenotypes with PORCN: view

Human Phenotype Ontology for PORCN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PORCN Gene

MGI Knock Outs for PORCN:

Animal Model Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PORCN Gene

Localization for PORCN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PORCN Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PORCN gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
nucleus 2

Gene Ontology (GO) - Cellular Components for PORCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum ISS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IEA --
genes like me logo Genes that share ontologies with PORCN: view

Pathways & Interactions for PORCN Gene

genes like me logo Genes that share pathways with PORCN: view

Pathways by source for PORCN Gene

Gene Ontology (GO) - Biological Process for PORCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006497 protein lipidation ISS --
GO:0009100 glycoprotein metabolic process IEA --
GO:0016055 Wnt signaling pathway ISS --
GO:0045234 protein palmitoleylation ISS --
GO:0060070 canonical Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with PORCN: view

No data available for SIGNOR curated interactions for PORCN Gene

Drugs & Compounds for PORCN Gene

(6) Drugs for PORCN Gene - From: ApexBio and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
IWP 12 Pharma Potent PORCN inhibitor; active in vivo 0
IWP-2 Pharma Wnt production inhibitor,PORCN inhibitor, PORCN inhibitor; inhibits Wnt processing and secretion 0
IWP-L6 Pharma Porcupine inhibitor,highy potent, Potent PORCN inhibitor 0
Wnt-C59 Pharma PORCN inhibitor,highly potent and selective, Highly potent PORCN inhibitor 0
LGK-974 Pharma PORCN inhibitor,potent and specific 0

(1) Additional Compounds for PORCN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for PORCN Gene

Compound Action Cas Number
IWP 12 Potent PORCN inhibitor; active in vivo 688353-45-9
IWP 2 PORCN inhibitor; inhibits Wnt processing and secretion 686770-61-6
IWP L6 Potent PORCN inhibitor 1427782-89-5
Wnt-C59 Highly potent PORCN inhibitor 1243243-89-1

(6) ApexBio Compounds for PORCN Gene

Compound Action Cas Number
IWP 12 688353-45-9
IWP-2 Wnt production inhibitor,PORCN inhibitor 686770-61-6
IWP-L6 Porcupine inhibitor,highy potent 1427782-89-5
LGK-974 PORCN inhibitor,potent and specific 1243244-14-5
Salinomycin Polyether ionophore antibiotic;anti-cancer 53003-10-4
Wnt-C59 PORCN inhibitor,highly potent and selective 1243243-89-1
genes like me logo Genes that share compounds with PORCN: view

Drug Products

Transcripts for PORCN Gene

Unigene Clusters for PORCN Gene

Porcupine homolog (Drosophila):
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PORCN Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^
SP1: - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - -
SP7: - -
SP8:
SP9:

ExUns: 14
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for PORCN Gene

GeneLoc Exon Structure for
PORCN
ECgene alternative splicing isoforms for
PORCN

Expression for PORCN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PORCN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PORCN Gene

This gene is overexpressed in Adrenal Gland (x4.7).

Protein differential expression in normal tissues from HIPED for PORCN Gene

This gene is overexpressed in Adrenal (28.9), Testis (22.5), Retina (7.4), and Frontal cortex (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PORCN Gene



Protein tissue co-expression partners for PORCN Gene

NURSA nuclear receptor signaling pathways regulating expression of PORCN Gene:

PORCN

SOURCE GeneReport for Unigene cluster for PORCN Gene:

Hs.386453

mRNA Expression by UniProt/SwissProt for PORCN Gene:

Q9H237-PORCN_HUMAN
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, kidney, liver, lung, spleen, uterus, testis. Isoform 2 and isoform 3 are expressed in substantia negra, spinal cord, heart and lung.
genes like me logo Genes that share expression patterns with PORCN: view

Orthologs for PORCN Gene

This gene was present in the common ancestor of animals.

Orthologs for PORCN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PORCN 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia PORCN 34 35
  • 94.8 (n)
cow
(Bos Taurus)
Mammalia PORCN 34 35
  • 94.15 (n)
mouse
(Mus musculus)
Mammalia Porcn 34 16 35
  • 93.55 (n)
rat
(Rattus norvegicus)
Mammalia Porcn 34
  • 93.26 (n)
oppossum
(Monodelphis domestica)
Mammalia PORCN 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PORCN 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PORCN 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia porcn 34
  • 73.63 (n)
MGC76260 34
African clawed frog
(Xenopus laevis)
Amphibia Xporc-d 34
zebrafish
(Danio rerio)
Actinopterygii porcn 35
  • 68 (a)
OneToOne
LOC100148644 34
  • 65.48 (n)
wufi26a04 34
African malaria mosquito
(Anopheles gambiae)
Insecta PORCN_ANOGA 34
  • 48 (n)
fruit fly
(Drosophila melanogaster)
Insecta por 35
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mom-1 35
  • 26 (a)
OneToOne
Species where no ortholog for PORCN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PORCN Gene

ENSEMBL:
Gene Tree for PORCN (if available)
TreeFam:
Gene Tree for PORCN (if available)

Paralogs for PORCN Gene

No data available for Paralogs for PORCN Gene

Variants for PORCN Gene

Sequence variations from dbSNP and Humsavar for PORCN Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs267606973 Focal dermal hypoplasia (FODH) [MIM:305600], Pathogenic 48,511,336(+) CAGGC(A/G)GGTTC intron-variant, reference, missense
VAR_035090 Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_058899 Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_058900 Focal dermal hypoplasia (FODH) [MIM:305600]
VAR_058902 Focal dermal hypoplasia (FODH) [MIM:305600]

Structural Variations from Database of Genomic Variants (DGV) for PORCN Gene

Variant ID Type Subtype PubMed ID
esv32909 CNV gain+loss 17666407
nsv528292 CNV gain 19592680

Variation tolerance for PORCN Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PORCN Gene

Human Gene Mutation Database (HGMD)
PORCN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PORCN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PORCN Gene

Disorders for PORCN Gene

MalaCards: The human disease database

(8) MalaCards diseases for PORCN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
focal dermal hypoplasia
  • goltz syndrome
focal facial dermal dysplasia
  • focal dermal hypoplasia
angioma serpiginosum
  • angioma serpiginosum of skin
orbital cyst
x-linked disease
- elite association - COSMIC cancer census association via MalaCards
Search PORCN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PORCN_HUMAN
  • Focal dermal hypoplasia (FODH) [MIM:305600]: A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis. In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and vascularization defects of the retina. Dental abnormalities are often present. {ECO:0000269 PubMed:17546030, ECO:0000269 PubMed:17546031, ECO:0000269 PubMed:18325042, ECO:0000269 PubMed:19277062, ECO:0000269 PubMed:19309688, ECO:0000269 PubMed:19586929, ECO:0000269 PubMed:19863546, ECO:0000269 PubMed:21472892}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PORCN

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PORCN
genes like me logo Genes that share disorders with PORCN: view

No data available for Genatlas for PORCN Gene

Publications for PORCN Gene

  1. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. (PMID: 17546030) Wang X. … Van den Veyver I.B. (Nat. Genet. 2007) 2 3 4 64
  2. Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine. (PMID: 12034504) Caricasole A. … Terstappen G.C. (Gene 2002) 2 3 4 64
  3. Mutation update for the PORCN gene. (PMID: 21472892) Lombardi M.P. … Hennekam R.C. (Hum. Mutat. 2011) 3 4 64
  4. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. (PMID: 19277062) Harmsen M.B. … Kutsche K. (Eur. J. Hum. Genet. 2009) 3 4 64
  5. PORCN mutations in focal dermal hypoplasia: coping with lethality. (PMID: 19309688) Bornholdt D. … Grzeschik K.-H. (Hum. Mutat. 2009) 3 4 64

Products for PORCN Gene

Sources for PORCN Gene

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