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

Gene ID: 53627, updated on 4-Jan-2025

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 glycoprotein metabolic process. Located in endoplasmic reticulum membrane. Part of AMPA glutamate receptor complex. Is active in glutamatergic synapse. Is expressed in several structures, including anterior visceral endoderm; genitourinary system; nervous system; primitive streak; and sensory organ. 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, Jan 2025]
Expression
Broad expression in cerebellum adult (RPKM 42.0), ovary adult (RPKM 21.2) and 21 other tissues See more
Orthologs
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Genomic context

See Porcn in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables O-acyltransferase activity  
enables Wnt-protein binding  
enables Wnt-protein binding PubMed 
enables palmitoleoyltransferase activity  
enables palmitoleoyltransferase activity PubMed 
enables palmitoleoyltransferase activity PubMed 
enables protein binding PubMed 
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex PubMed 
is_active_in endoplasmic reticulum  
located_in endoplasmic reticulum PubMed 
located_in endoplasmic reticulum membrane PubMed 
located_in endoplasmic reticulum membrane  
is_active_in glutamatergic synapse PubMed 
is_active_in glutamatergic synapse PubMed 
is_active_in glutamatergic synapse PubMed 
is_active_in membrane  

General protein information

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_001308474.1NP_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:6226
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  2. NM_016913.4NP_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:31332
    MBOAT; membrane-bound O-acyltransferase family
  3. NM_023638.4NP_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:31343
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  4. NM_145907.4NP_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:31337
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  5. NM_145908.4NP_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:31338
    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_030251383.2XP_030107243.1  protein-serine O-palmitoleoyltransferase porcupine isoform X3

    Conserved Domains (1) summary
    cl00738
    Location:31332
    MBOAT; membrane-bound O-acyltransferase family
  2. XM_036162014.1XP_036017907.1  protein-serine O-palmitoleoyltransferase porcupine isoform X2

    Conserved Domains (1) summary
    cl00738
    Location:31338
    MBOAT; membrane-bound O-acyltransferase family
  3. XM_006527644.4XP_006527707.1  protein-serine O-palmitoleoyltransferase porcupine isoform X1

    Conserved Domains (1) summary
    cl00738
    Location:31343
    MBOAT; membrane-bound O-acyltransferase family
  4. XM_036162016.1XP_036017909.1  protein-serine O-palmitoleoyltransferase porcupine isoform X5

    Conserved Domains (1) summary
    cl00738
    Location:11231
    MBOAT; membrane-bound O-acyltransferase family
  5. XM_036162015.1XP_036017908.1  protein-serine O-palmitoleoyltransferase porcupine isoform X4

    Conserved Domains (1) summary
    cl00738
    Location:135306
    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

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