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Aliases for PORCN Gene

Aliases for PORCN Gene

  • Porcupine Homolog (Drosophila) 2 3
  • PORC 3 4 6
  • FODH 3 6
  • DHOF 3 6
  • MG61 3 4
  • PPN 3 4
  • Probable Protein-Cysteine N-Palmitoyltransferase Porcupine 3
  • Protein-Cysteine N-Palmitoyltransferase Porcupine 3
  • Dermal Hypoplasia, Focal 2
  • Protein MG61 4
  • EC 2.3.1.- 4

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 angioma serpiginosum. Among its related pathways are Signaling by GPCR and beta-catenin independent WNT signaling. GO annotations related to this gene include transferase activity, transferring acyl groups.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PORCN Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PORCN Gene at MOPED

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 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 :
  • Q9H237
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:0005515 protein binding --
GO:0016746 transferase activity, transferring acyl groups --
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

Animal Models for PORCN Gene

MGI Knock Outs for PORCN:

Animal Model Products

CRISPR Products

miRNA for PORCN Gene

miRTarBase miRNAs that target PORCN

No data available for Transcription Factor Targeting 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
Jensen Localization Image for PORCN Gene COMPARTMENTS Subcellular localization image for PORCN gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 3
plasma membrane 3

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:0030176 integral component of endoplasmic reticulum membrane IEA --
GO:0032281 alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex IEA --
genes like me logo Genes that share ontologies with PORCN: view

Pathways for PORCN Gene

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

Pathways by source for PORCN Gene

1 KEGG pathway for PORCN Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 --
genes like me logo Genes that share ontologies with PORCN: view

Compounds for PORCN Gene

(3) Tocris Compounds for PORCN Gene

Compound Action Cas Number
IWP 2 Inhibitor of Wnt processing and secretion; blocks beta-catenin accumulation [686770-61-6]
IWP L6 Potent Porcn inhibitor [1427782-89-5]
Wnt-C59 Highly potent Porcn inhibitor [1243243-89-1]

(1) Novoseek inferred chemical compound relationships for PORCN Gene

Compound -log(P) Hits PubMed IDs
protochlorophyllide 93 4
genes like me logo Genes that share compounds with PORCN: view

Transcripts for PORCN Gene

Unigene Clusters for PORCN Gene

Porcupine homolog (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PORCN

Primer Products

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 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 (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PORCN Gene

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 expressions with PORCN: view

In Situ Assay Products

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 35
  • 99.49 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia PORCN 35
  • 94.15 (n)
  • 98.67 (a)
PORCN 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PORCN 35
  • 94.8 (n)
  • 98.46 (a)
PORCN 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Porcn 35
  • 93.55 (n)
  • 97.14 (a)
Porcn 16
Porcn 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PORCN 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PORCN 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Porcn 35
  • 93.26 (n)
  • 96.92 (a)
lizard
(Anolis carolinensis)
Reptilia PORCN 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xporc-d 35
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76260 35
porcn 35
  • 73.63 (n)
  • 77.33 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100148644 35
  • 65.48 (n)
  • 65.26 (a)
porcn 36
  • 68 (a)
OneToOne
wufi26a04 35
African malaria mosquito
(Anopheles gambiae)
Insecta PORCN_ANOGA 35
  • 48 (n)
  • 41.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta por 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mom-1 36
  • 26 (a)
OneToOne
Species with no ortholog for PORCN:
  • 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 MAF
rs1546839 -- 48,512,085(+) GGTCC(A/G)TGTCT intron-variant, utr-variant-5-prime
rs3747317 -- 48,511,654(-) CTCCA(C/T)GTCCT intron-variant
rs5905696 -- 48,511,749(+) GGAGC(C/G)TGGGA intron-variant
rs5953244 -- 48,515,754(+) TTCTC(C/G)GCTGT synonymous-codon, reference
rs6609756 -- 48,518,998(+) TAAAT(A/G)AAGTT intron-variant

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

Relevant External Links for PORCN Gene

HapMap Linkage Disequilibrium report
PORCN
Human Gene Mutation Database (HGMD)
PORCN
Locus Specific Mutation Databases (LSDB)
PORCN

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

Disorders for PORCN Gene

(1) OMIM Diseases for PORCN Gene (300651)

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.

(3) University of Copenhagen DISEASES for PORCN Gene

Relevant External Links for PORCN

GeneTests
PORCN
GeneReviews
PORCN
genes like me logo Genes that share disorders with PORCN: view

Publications for PORCN Gene

  1. 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
  2. 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
  3. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. (PMID: 17546031) Grzeschik K.-H. … Happle R. (Nat. Genet. 2007) 3 4
  4. Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. (PMID: 18325042) Leoyklang P. … Shotelersuk V. (Clin. Genet. 2008) 3 4
  5. 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

Products for PORCN Gene

Sources for PORCN Gene

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