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PORCN porcupine O-acyltransferase [ Homo sapiens (human) ]

Gene ID: 64840, updated on 23-Nov-2021

Summary

Official Symbol
PORCNprovided by HGNC
Official Full Name
porcupine O-acyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:17652
See related
Ensembl:ENSG00000102312 MIM:300651
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PPN; DHOF; FODH; MG61; PORC
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 12.6), endometrium (RPKM 5.9) and 23 other tissues See more
Orthologs
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Genomic context

See PORCN in Genome Data Viewer
Location:
Xp11.23
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (48508992..48520814)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48367380..48379202)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element Neighboring gene PORCN divergent transcript Neighboring gene EBP cholestenol delta-isomerase Neighboring gene CRISPRi-validated cis-regulatory element chrX.929

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Anophthalmia-microphthalmia syndrome
MedGen: CN120488 GeneReviews: Not available
Compare labs
Focal dermal hypoplasia
MedGen: C0016395 OMIM: 305600 GeneReviews: Focal Dermal Hypoplasia
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-08-23)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2012-08-23)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC29687, 2410004O13Rik

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Wnt-protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables acyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables palmitoleoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables palmitoleoyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in Wnt protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in glycoprotein metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in lipid modification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein lipidation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein palmitoleylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein palmitoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein-serine O-palmitoleoyltransferase porcupine
Names
porcupine homolog
probable protein-cysteine N-palmitoyltransferase porcupine
NP_001269096.1
NP_073736.2
NP_982299.1
NP_982300.1
NP_982301.1
XP_024308193.1

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.

Genomic

  1. NG_009278.1 RefSeqGene

    Range
    5010..16826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282167.2NP_001269096.1  protein-serine O-palmitoleoyltransferase porcupine isoform F

    See identical proteins and their annotated locations for NP_001269096.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (F) differs in its 5' UTR, initiates translation from a downstream start codon, and lacks two in-frame exons in the central coding region, compared to variant D. The encoded isoform (F) is shorter, compared to isoform D.
    Source sequence(s)
    AF317061, CN310467, HY002842
    UniProtKB/Swiss-Prot
    Q9H237
    Conserved Domains (1) summary
    cl00738
    Location:25261
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  2. NM_022825.4NP_073736.2  protein-serine O-palmitoleoyltransferase porcupine isoform A

    See identical proteins and their annotated locations for NP_073736.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) lacks two in-frame exons in the central coding region, compared to variant D. The resulting isoform (A) is shorter, compared to isoform D.
    Source sequence(s)
    AF317058, AL579208, HY002842
    Consensus CDS
    CCDS14296.1
    UniProtKB/Swiss-Prot
    Q9H237
    Related
    ENSP00000354978.3, ENST00000361988.7
    Conserved Domains (1) summary
    cl00738
    Location:25332
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  3. NM_203473.3NP_982299.1  protein-serine O-palmitoleoyltransferase porcupine isoform B

    See identical proteins and their annotated locations for NP_982299.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) lacks an in-frame exon in the central coding region, compared to variant D. The encoded isoform (B) is shorter, compared to isoform D.
    Source sequence(s)
    BC019080, HY002842
    Consensus CDS
    CCDS14297.1
    UniProtKB/Swiss-Prot
    Q9H237
    Related
    ENSP00000348233.4, ENST00000355961.8
    Conserved Domains (1) summary
    cl00738
    Location:25338
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  4. NM_203474.1NP_982300.1  protein-serine O-palmitoleoyltransferase porcupine isoform C

    See identical proteins and their annotated locations for NP_982300.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (C) has a shorter 5' UTR, and lacks an in-frame exon in the central coding region, compared to variant D. The encoded isoform (C) is shorter, compared to isoform D.
    Source sequence(s)
    AF317060, AK314745
    Consensus CDS
    CCDS14298.1
    UniProtKB/Swiss-Prot
    Q9H237
    Related
    ENSP00000352946.4, ENST00000359882.8
    Conserved Domains (1) summary
    cl00738
    Location:25337
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  5. NM_203475.3NP_982301.1  protein-serine O-palmitoleoyltransferase porcupine isoform D

    See identical proteins and their annotated locations for NP_982301.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (D) encodes the longest isoform (D).
    Source sequence(s)
    AF317061, AK314745, HY002842
    Consensus CDS
    CCDS14299.1
    UniProtKB/Swiss-Prot
    Q9H237
    Related
    ENSP00000322304.6, ENST00000326194.11
    Conserved Domains (1) summary
    cl00738
    Location:25343
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    48508992..48520814
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452425.1XP_024308193.1  protein-serine O-palmitoleoyltransferase porcupine isoform X1

    Conserved Domains (1) summary
    cl00738
    Location:138509
    MBOAT; membrane-bound O-acyltransferase family

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_203476.1: Suppressed sequence

    Description
    NM_203476.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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