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Porcn porcupine O-acyltransferase [ Mus musculus (house mouse) ]

Gene ID: 53627, updated on 21-Apr-2024

Summary

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Official Symbol
Porcnprovided by MGI
Official Full Name
porcupine O-acyltransferaseprovided by MGI
Primary source
MGI:MGI:1890212
See related
Ensembl:ENSMUSG00000031169 AllianceGenome:MGI:1890212
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ppn; Mg61; porc; Mporc; mMg61; DXHXS7465e; 2410004O13Rik
Summary
Enables Wnt-protein binding activity and palmitoleoyltransferase activity. Involved in Wnt signaling pathway; protein palmitoleylation; and regulation of postsynaptic membrane neurotransmitter receptor levels. Acts upstream of or within canonical Wnt signaling pathway and glycoprotein metabolic process. Located in endoplasmic reticulum and glutamatergic synapse. Is integral component of endoplasmic reticulum membrane. Part of AMPA glutamate receptor complex. Is expressed in several structures, including anterior visceral endoderm; eye; genitourinary system; nervous system; and primitive streak. Used to study focal dermal hypoplasia. Human ortholog(s) of this gene implicated in focal dermal hypoplasia. Orthologous to human PORCN (porcupine O-acyltransferase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in cerebellum adult (RPKM 42.0), ovary adult (RPKM 21.2) and 21 other tissues See more
Orthologs
human all
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Genomic context

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Location:
X A1.1; X 3.7 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (8060085..8072794, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (8193846..8206548, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene TBC1 domain family, member 25 Neighboring gene STARR-seq mESC enhancer starr_46689 Neighboring gene STARR-seq mESC enhancer starr_46690 Neighboring gene EBP cholestenol delta-isomerase Neighboring gene STARR-seq mESC enhancer starr_46691 Neighboring gene predicted gene, 33135 Neighboring gene STARR-seq mESC enhancer starr_46693 Neighboring gene FtsJ RNA 2'-O-methyltransferase 1 Neighboring gene STARR-seq mESC enhancer starr_46694 Neighboring gene predicted gene, 54078

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Opposing actions of renal tubular- and myeloid-derived porcupine in obstruction-induced kidney fibrosis. Lu X, et al. Kidney Int, 2019 Dec. PMID 31585741, Free PMC Article
  2. Targeting Wnt-driven cancer through the inhibition of Porcupine by LGK974. Liu J, et al. Proc Natl Acad Sci U S A, 2013 Dec 10. PMID 24277854, Free PMC Article
  3. Zygotic Porcn paternal allele deletion in mice to model human focal dermal hypoplasia. Biechele S, et al. PLoS One, 2013. PMID 24223895, Free PMC Article
  4. Misexpression of mouse porcupine isoforms modulates the differentiation of P19 embryonic carcinoma cells. Tanaka K, et al. Cell Biol Int, 2003. PMID 12842094
  5. Hematopoietic Wnts Modulate Endochondral Ossification During Fracture Healing. Chua K, et al. Front Endocrinol (Lausanne), 2021. PMID 34108937, Free PMC Article

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hematopoietic Wnts Modulate Endochondral Ossification During Fracture Healing.
    Title: Hematopoietic Wnts Modulate Endochondral Ossification During Fracture Healing.
  2. Opposing actions of renal tubular- and myeloid-derived porcupine in obstruction-induced kidney fibrosis.
    Title: Opposing actions of renal tubular- and myeloid-derived porcupine in obstruction-induced kidney fibrosis.
  3. Porcn mosaicism results in reduced fertility.
    Title: Regulation of porcupine-dependent Wnt signaling is essential for uterine development and function.
  4. This study showed that postnatal ablation of Porcupine in the uterine luminal epithelium alone results in the decrease in endometrial gland number; mutant females are completely infertile.
    Title: Porcupine-dependent Wnt activity within the uterine epithelium is essential for fertility.
  5. Data suggest that PORCN exhibits substrate specificity that includes a Wnt3a peptide fragment (residues 199-219, with disulfide bonds); recombinant PORCN containing a point mutation (R228C) associated with focal dermal hypoplasia exhibits impaired acylation activity toward Wnt3a peptide fragment. (PORCN = porcupine O-acyltransferase; Wnt3a = Wnt family member 3A)
    Title: An in vitro fatty acylation assay reveals a mechanism for Wnt recognition by the acyltransferase Porcupine.
  6. Porcupine-dependent Wnt signaling, unlike previously reported, is dispensable for postnatal gland formation but is required for post-pubertal gland maintenance as well as for stromal cell proliferation.
    Title: Porcupine-dependent Wnt signaling controls stromal proliferation and endometrial gland maintenance through the action of distinct WNTs.
  7. Overexpression of PORCN enhances the ability of WLS to promote WNT1 trafficking to the cell surface as well as secretion, but decreases the ability of WLS to activate WNT1 signaling in target cell.
    Title: Divergent effects of Porcupine and Wntless on WNT1 trafficking, secretion, and signaling.
  8. Inhibition of porcupine abrogates kidney fibrosis not only by overcoming the redundancy of individual Wnt isoforms but also by preventing upstream cytokine-induced Wnt generation.
    Title: Experimental inhibition of porcupine-mediated Wnt O-acylation attenuates kidney fibrosis.
  9. Conditional PORCN knockout mice exhibit specific changes in AMPAR expression and gating that reduce basal synaptic transmission but leave long-term potentiation intact.
    Title: Porcupine Controls Hippocampal AMPAR Levels, Composition, and Synaptic Transmission.
  10. Porcn is required in both extraocular and neuroectodermal tissues to regulate distinct Wnt-dependent processes during morphogenesis of the posterior and anterior segments of the eye
    Title: Multiple requirements of the focal dermal hypoplasia gene porcupine during ocular morphogenesis.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (2) 
  • Targeted (7)  1 citation
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables O-acyltransferase activity TAS
Traceable Author Statement
more info
  
enables Wnt-protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Wnt-protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables acyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables palmitoleoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables palmitoleoyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables palmitoleoyltransferase activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Wnt protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Wnt signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within glycoprotein metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipid modification IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein lipidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein palmitoleylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein palmitoleylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein palmitoylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse IEP
Inferred from Expression Pattern
more info
 PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
protein-serine O-palmitoleoyltransferase porcupine
Names
porcupine homolog
probable protein-cysteine N-palmitoyltransferase porcupine
NP_001295403.1
NP_058609.1
NP_076127.1
NP_665914.1
NP_665915.1
XP_006527707.1
XP_030107243.1
XP_036017907.1
XP_036017908.1
XP_036017909.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001308474.1 → NP_001295403.1  protein-serine O-palmitoleoyltransferase porcupine isoform E

    See identical proteins and their annotated locations for NP_001295403.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (e) lacks three alternate exons in the 5' coding region and initiates translation at an alternate start codon compared to variant a. The encoded isoform (E) has a distinct, shorter N-terminus than isoform a.
    Source sequence(s)
    AI839581, AK010405, AL663032
    UniProtKB/Swiss-Prot
    Q9JJJ7
    Conserved Domains (1) summary
    cl00738
    Location:6 → 226
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  2. NM_016913.4 → NP_058609.1  protein-serine O-palmitoleoyltransferase porcupine isoform A

    See identical proteins and their annotated locations for NP_058609.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (a) encodes isoform A.
    Source sequence(s)
    AI839581, AK010405, AL663032, BF462782, BQ556448
    Consensus CDS
    CCDS29990.1
    UniProtKB/Swiss-Prot
    Q9JJJ7
    Related
    ENSMUSP00000086824.4, ENSMUST00000089402.10
    Conserved Domains (1) summary
    cl00738
    Location:31 → 332
    MBOAT; membrane-bound O-acyltransferase family

  3. NM_023638.4 → NP_076127.1  protein-serine O-palmitoleoyltransferase porcupine isoform D

    See identical proteins and their annotated locations for NP_076127.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (d) contains two alternate in-frame exons compared to variant a. The encoded isoform (D) is longer than isoform A.
    Source sequence(s)
    AI839581, AK010405, AL663032, BF462782, BQ556448, BU707440
    Consensus CDS
    CCDS29991.1
    UniProtKB/Swiss-Prot
    A2AC30, A2AC32, A2AC33, Q9CWT0, Q9JJJ7, Q9JJJ8, Q9JJJ9, Q9JJK0
    Related
    ENSMUSP00000076790.6, ENSMUST00000077595.12
    Conserved Domains (1) summary
    cl00738
    Location:31 → 343
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  4. NM_145907.4 → NP_665914.1  protein-serine O-palmitoleoyltransferase porcupine isoform C

    See identical proteins and their annotated locations for NP_665914.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (c) contains an alternate in-frame exon compared to variant a. The encoded isoform (C) is longer than isoform A.
    Source sequence(s)
    AI839581, AK010405, AL663032, BF462782, BQ556448, BU707440
    Consensus CDS
    CCDS29992.1
    UniProtKB/Swiss-Prot
    Q9JJJ7
    Related
    ENSMUSP00000086825.4, ENSMUST00000089403.10
    Conserved Domains (1) summary
    cl00738
    Location:31 → 337
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  5. NM_145908.4 → NP_665915.1  protein-serine O-palmitoleoyltransferase porcupine isoform B

    See identical proteins and their annotated locations for NP_665915.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (b) contains an alternate in-frame exon compared to variant a. The encoded isoform (B) is longer than isoform A.
    Source sequence(s)
    AI839581, AK010405, AL663032, BF462782, BQ556448, BU707440
    Consensus CDS
    CCDS29993.1
    UniProtKB/Swiss-Prot
    Q9JJJ7
    Related
    ENSMUSP00000080937.6, ENSMUST00000082320.12
    Conserved Domains (1) summary
    cl00738
    Location:31 → 338
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

RNA

  1. NR_131893.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (f) uses alternate splice sites at two internal exons compared to variant a. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI839581, AK010405, AL663032, BF462782, BQ556448
    Related
    ENSMUST00000122943.2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    8060085..8072794 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030251383.2 → XP_030107243.1  protein-serine O-palmitoleoyltransferase porcupine isoform X3

    Conserved Domains (1) summary
    cl00738
    Location:31 → 332
    MBOAT; membrane-bound O-acyltransferase family

  2. XM_036162014.1 → XP_036017907.1  protein-serine O-palmitoleoyltransferase porcupine isoform X2

    Conserved Domains (1) summary
    cl00738
    Location:31 → 338
    MBOAT; membrane-bound O-acyltransferase family

  3. XM_006527644.4 → XP_006527707.1  protein-serine O-palmitoleoyltransferase porcupine isoform X1

    Conserved Domains (1) summary
    cl00738
    Location:31 → 343
    MBOAT; membrane-bound O-acyltransferase family

  4. XM_036162016.1 → XP_036017909.1  protein-serine O-palmitoleoyltransferase porcupine isoform X5

    Conserved Domains (1) summary
    cl00738
    Location:11 → 231
    MBOAT; membrane-bound O-acyltransferase family

  5. XM_036162015.1 → XP_036017908.1  protein-serine O-palmitoleoyltransferase porcupine isoform X4

    Conserved Domains (1) summary
    cl00738
    Location:135 → 306
    MBOAT; membrane-bound O-acyltransferase family

RNA

  1. XR_004940353.1 RNA Sequence

  2. XR_003953014.2 RNA Sequence

  3. XR_004940352.1 RNA Sequence

  4. XR_878030.4 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JJJ7.1 GenPept UniProtKB/Swiss-Prot:Q9JJJ7

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