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

Summary

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

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hematopoietic Wnts Modulate Endochondral Ossification During Fracture Healing.
Title: Hematopoietic Wnts Modulate Endochondral Ossification During Fracture Healing.
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.
Porcn mosaicism results in reduced fertility.
Title: Regulation of porcupine-dependent Wnt signaling is essential for uterine development and function.
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.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (2)
Gene trapped (2)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW045557 (e-PCR)
- UniSTS:166172

BB265815 (e-PCR)
- UniSTS:209501

Ppn-pending (e-PCR), detects polymorphism
- UniSTS:186229

Porcn (e-PCR), detects polymorphism
- UniSTS:545975

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

EC 2.3.1.250

NP_058609.1

EC 2.3.1.250

NP_076127.1

EC 2.3.1.250

NP_665914.1

EC 2.3.1.250

NP_665915.1

EC 2.3.1.250

XP_006527707.1

EC 2.3.1.250

XP_030107243.1

EC 2.3.1.250

XP_036017907.1

EC 2.3.1.250

XP_036017908.1

EC 2.3.1.250

XP_036017909.1

EC 2.3.1.250

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)

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
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
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
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
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

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

NC_000086.8 Reference GRCm39 C57BL/6J

Range

8060085..8072794 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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