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

Gene ID: 64840, updated on 27-Nov-2024

Summary

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Official Symbol
PORCNprovided by HGNC
Official Full Name
porcupine O-acyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:17652
See related
Ensembl:ENSG00000102312 MIM:300651; AllianceGenome:HGNC:17652
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

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See PORCN in Genome Data Viewer
Location:
Xp11.23
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48508992..48520814)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47917895..47929826)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48367380..48379202)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905185 Neighboring gene FtsJ RNA 2'-O-methyltransferase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:48347476-48347709 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20814 Neighboring gene PORCN divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20816 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20817 Neighboring gene CRISPRi-validated cis-regulatory element chrX.929 Neighboring gene EBP cholestenol delta-isomerase Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48397756-48398256 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48398257-48398757 Neighboring gene TBC1 domain family member 25

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Fernandes PH, et al. Genet Test Mol Biomarkers, 2010 Oct. PMID 20854095
  2. Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia. Young MP, et al. J AAPOS, 2014 Apr. PMID 24698628, Free PMC Article
  3. Porcupine is not required for the production of the majority of Wnts from primary human astrocytes and CD8+ T cells. Richards MH, et al. PLoS One, 2014. PMID 24647048, Free PMC Article
  4. Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. Garavelli L, et al. Am J Med Genet A, 2013 Jul. PMID 23696273
  5. The Wnt signalling pathway is upregulated in an in vitro model of acquired tamoxifen resistant breast cancer. Loh YN, et al. BMC Cancer, 2013 Apr 2. PMID 23547709, Free PMC Article

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Inhibition of PORCN Blocks Wnt Signaling to Attenuate Progression of Oral Carcinogenesis.
    Title: Inhibition of PORCN Blocks Wnt Signaling to Attenuate Progression of Oral Carcinogenesis.
  2. A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review.
    Title: A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review.
  3. Suppression of Wnt/beta-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease.
    Title: Suppression of Wnt/β-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease.
  4. Mechanisms and inhibition of Porcupine-mediated Wnt acylation.
    Title: Mechanisms and inhibition of Porcupine-mediated Wnt acylation.
  5. A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.
    Title: A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.
  6. Responses of Porcupine and Wntless proteins to oxidative, hypoxic and endoplasmic reticulum stresses.
    Title: Responses of Porcupine and Wntless proteins to oxidative, hypoxic and endoplasmic reticulum stresses.
  7. Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
    Title: Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
  8. Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.
    Title: Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.
  9. De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
    Title: De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
  10. Porcupine Inhibitor LGK974 Downregulates the Wnt Signaling Pathway and Inhibits Clear Cell Renal Cell Carcinoma.
    Title: Porcupine Inhibitor LGK974 Downregulates the Wnt Signaling Pathway and Inhibits Clear Cell Renal Cell Carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Anophthalmia-microphthalmia syndrome
MedGen: C5680330 GeneReviews: Not available
Compare labs
Focal dermal hypoplasia
MedGen: C0016395 OMIM: 305600 GeneReviews: PORCN-Related Developmental Disorders
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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
enables palmitoleoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables palmitoleoyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Wnt protein secretion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
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
  
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 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
  
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
  
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_001269096.1
NP_073736.2
NP_982299.1
NP_982300.1
NP_982301.1
XP_047298313.1
XP_047298314.1
XP_047298315.1
XP_047298316.1
XP_047298317.1
XP_047298318.1
XP_047298319.1
XP_047298320.1
XP_047298321.1
XP_047298322.1
XP_047298323.1
XP_047298324.1
XP_047298325.1
XP_047298326.1
XP_047298327.1
XP_047298328.1
XP_047298329.1
XP_054183551.1
XP_054183552.1
XP_054183553.1
XP_054183554.1
XP_054183555.1
XP_054183556.1
XP_054183557.1
XP_054183558.1
XP_054183559.1
XP_054183560.1
XP_054183561.1
XP_054183562.1
XP_054183563.1
XP_054183564.1
XP_054183565.1
XP_054183566.1
XP_054183567.1

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_001282167.2 → NP_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/TrEMBL
    B4DDV2
    Conserved Domains (1) summary
    cl00738
    Location:25 → 261
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  2. NM_022825.4 → NP_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/TrEMBL
    B4DDV2
    Related
    ENSP00000354978.3, ENST00000361988.7
    Conserved Domains (1) summary
    cl00738
    Location:25 → 332
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  3. NM_203473.3 → NP_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/TrEMBL
    B4DDV2
    Related
    ENSP00000348233.4, ENST00000355961.8
    Conserved Domains (1) summary
    cl00738
    Location:25 → 338
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  4. NM_203474.1 → NP_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/TrEMBL
    B4DDV2
    Related
    ENSP00000352946.4, ENST00000359882.8
    Conserved Domains (1) summary
    cl00738
    Location:25 → 337
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  5. NM_203475.3 → NP_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
    B2RBN8, B7ZAR3, Q14829, Q9H234, Q9H235, Q9H236, Q9H237, Q9UJU7
    UniProtKB/TrEMBL
    B4DDV2
    Related
    ENSP00000322304.6, ENST00000326194.11
    Conserved Domains (1) summary
    cl00738
    Location:25 → 343
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047442357.1 → XP_047298313.1  protein-serine O-palmitoleoyltransferase porcupine isoform X1

  2. XM_047442358.1 → XP_047298314.1  protein-serine O-palmitoleoyltransferase porcupine isoform X2

  3. XM_047442359.1 → XP_047298315.1  protein-serine O-palmitoleoyltransferase porcupine isoform X3

  4. XM_047442360.1 → XP_047298316.1  protein-serine O-palmitoleoyltransferase porcupine isoform X4

  5. XM_047442361.1 → XP_047298317.1  protein-serine O-palmitoleoyltransferase porcupine isoform X5

  6. XM_047442367.1 → XP_047298323.1  protein-serine O-palmitoleoyltransferase porcupine isoform X11

  7. XM_047442369.1 → XP_047298325.1  protein-serine O-palmitoleoyltransferase porcupine isoform X13

  8. XM_047442364.1 → XP_047298320.1  protein-serine O-palmitoleoyltransferase porcupine isoform X8

  9. XM_047442366.1 → XP_047298322.1  protein-serine O-palmitoleoyltransferase porcupine isoform X10

  10. XM_047442368.1 → XP_047298324.1  protein-serine O-palmitoleoyltransferase porcupine isoform X12

  11. XM_047442362.1 → XP_047298318.1  protein-serine O-palmitoleoyltransferase porcupine isoform X6

  12. XM_047442363.1 → XP_047298319.1  protein-serine O-palmitoleoyltransferase porcupine isoform X7

  13. XM_047442371.1 → XP_047298327.1  protein-serine O-palmitoleoyltransferase porcupine isoform X15

  14. XM_047442372.1 → XP_047298328.1  protein-serine O-palmitoleoyltransferase porcupine isoform X16

  15. XM_047442373.1 → XP_047298329.1  protein-serine O-palmitoleoyltransferase porcupine isoform X17

  16. XM_047442370.1 → XP_047298326.1  protein-serine O-palmitoleoyltransferase porcupine isoform X14

    UniProtKB/Swiss-Prot
    B2RBN8, B7ZAR3, Q14829, Q9H234, Q9H235, Q9H236, Q9H237, Q9UJU7

  17. XM_047442365.1 → XP_047298321.1  protein-serine O-palmitoleoyltransferase porcupine isoform X9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    47917895..47929826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327588.1 → XP_054183563.1  protein-serine O-palmitoleoyltransferase porcupine isoform X13

  2. XM_054327576.1 → XP_054183551.1  protein-serine O-palmitoleoyltransferase porcupine isoform X1

  3. XM_054327577.1 → XP_054183552.1  protein-serine O-palmitoleoyltransferase porcupine isoform X2

  4. XM_054327578.1 → XP_054183553.1  protein-serine O-palmitoleoyltransferase porcupine isoform X3

  5. XM_054327579.1 → XP_054183554.1  protein-serine O-palmitoleoyltransferase porcupine isoform X4

  6. XM_054327580.1 → XP_054183555.1  protein-serine O-palmitoleoyltransferase porcupine isoform X5

  7. XM_054327586.1 → XP_054183561.1  protein-serine O-palmitoleoyltransferase porcupine isoform X11

  8. XM_054327583.1 → XP_054183558.1  protein-serine O-palmitoleoyltransferase porcupine isoform X8

  9. XM_054327585.1 → XP_054183560.1  protein-serine O-palmitoleoyltransferase porcupine isoform X10

  10. XM_054327587.1 → XP_054183562.1  protein-serine O-palmitoleoyltransferase porcupine isoform X12

  11. XM_054327581.1 → XP_054183556.1  protein-serine O-palmitoleoyltransferase porcupine isoform X6

  12. XM_054327582.1 → XP_054183557.1  protein-serine O-palmitoleoyltransferase porcupine isoform X7

  13. XM_054327590.1 → XP_054183565.1  protein-serine O-palmitoleoyltransferase porcupine isoform X15

  14. XM_054327591.1 → XP_054183566.1  protein-serine O-palmitoleoyltransferase porcupine isoform X16

  15. XM_054327592.1 → XP_054183567.1  protein-serine O-palmitoleoyltransferase porcupine isoform X17

  16. XM_054327589.1 → XP_054183564.1  protein-serine O-palmitoleoyltransferase porcupine isoform X14

    UniProtKB/Swiss-Prot
    B2RBN8, B7ZAR3, Q14829, Q9H234, Q9H235, Q9H236, Q9H237, Q9UJU7

  17. XM_054327584.1 → XP_054183559.1  protein-serine O-palmitoleoyltransferase porcupine isoform X9

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H237.2 GenPept UniProtKB/Swiss-Prot:Q9H237

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