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

    Gene ID: 64840, updated on 2-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
    mouse all
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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 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)

    Genotypes

    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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