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    PORCN porcupine homolog (Drosophila) [ Homo sapiens (human) ]

    Gene ID: 64840, updated on 17-Jul-2015
    Official Symbol
    PORCNprovided by HGNC
    Official Full Name
    porcupine homolog (Drosophila)provided by HGNC
    Primary source
    HGNC:HGNC:17652
    See related
    Ensembl:ENSG00000102312; HPRD:06680; MIM:300651; Vega:OTTHUMG00000024116
    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]
    Orthologs
    See PORCN in Epigenomics, MapViewer
    Location:
    Xp11.23
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (48508959..48520814)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48367347..48379202)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene FtsJ RNA methyltransferase homolog 1 (E. coli) Neighboring gene uncharacterized LOC101927635 Neighboring gene emopamil binding protein (sterol isomerase) Neighboring gene TBC1 domain family, member 25

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by WNT in cancer, organism-specific biosystem (from REACTOME)
      Signaling by WNT in cancer, organism-specific biosystemThe WNT signaling pathway has been linked with cancer ever since the identification of the first WNT as a gene activated by integration of mouse mammary tumor virus proviral DNA in virally-induced br...
    • Signaling by Wnt, organism-specific biosystem (from REACTOME)
      Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
    • WNT ligand biogenesis and trafficking, organism-specific biosystem (from REACTOME)
      WNT ligand biogenesis and trafficking, organism-specific biosystem19 WNT proteins have been identified in human cells. The WNTs are members of a conserved metazoan family of secreted morphogens that activate several signaling pathways in the responding cell: the c...
    • WNT ligand secretion is abrogated by the PORCN inhibitor LGK974, organism-specific biosystem (from REACTOME)
      WNT ligand secretion is abrogated by the PORCN inhibitor LGK974, organism-specific biosystemAberrant WNT signaling is associated with the development of numerous cancers, and strategies for targeting this pathway are under intense investigation (reviewed in Polakis, 2012; Polakis, 2000; Yao...
    • Wnt signaling pathway, organism-specific biosystem (from KEGG)
      Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    • Wnt signaling pathway, conserved biosystem (from KEGG)
      Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC29687, 2410004O13Rik

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Wnt-protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    palmitoleoyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    glycoprotein metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    protein lipidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein palmitoleylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    AMPA glutamate receptor complex IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein-serine O-palmitoleoyltransferase porcupine
    Names
    probable protein-cysteine N-palmitoyltransferase porcupine

    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
      4977..16832
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282167.1NP_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
      pfam03062
      Location:44320
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    2. NM_022825.3NP_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, OTTHUMP00000216273, ENST00000361988, OTTHUMT00000356989
      Conserved Domains (1) summary
      pfam03062
      Location:115391
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    3. NM_203473.2NP_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)
      AF317058, BC019080, HY002842
      Consensus CDS
      CCDS14297.1
      UniProtKB/Swiss-Prot
      Q9H237
      Related
      ENSP00000348233, OTTHUMP00000025785, ENST00000355961, OTTHUMT00000060708
      Conserved Domains (1) summary
      pfam03062
      Location:115397
      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, OTTHUMP00000025784, ENST00000359882, OTTHUMT00000060707
      Conserved Domains (1) summary
      pfam03062
      Location:115396
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    5. NM_203475.2NP_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, OTTHUMP00000216274, ENST00000326194, OTTHUMT00000356990
      Conserved Domains (1) summary
      pfam03062
      Location:115402
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

      Range
      48508959..48520814
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272635.1XP_005272692.1  

      Conserved Domains (1) summary
      pfam03062
      Location:228510
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    2. XM_005272636.1XP_005272693.1  

      See identical proteins and their annotated locations for XP_005272693.1

      Conserved Domains (1) summary
      pfam03062
      Location:228504
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    3. XM_011543948.1XP_011542250.1  

      See identical proteins and their annotated locations for XP_011542250.1

      UniProtKB/Swiss-Prot
      Q9H237
      Conserved Domains (1) summary
      pfam03062
      Location:44320
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    4. XM_005272637.1XP_005272694.1  

      Conserved Domains (1) summary
      pfam03062
      Location:199486
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    5. XM_006724546.2XP_006724609.1  

      See identical proteins and their annotated locations for XP_006724609.1

      UniProtKB/Swiss-Prot
      Q9H237
      Conserved Domains (1) summary
      pfam03062
      Location:115402
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    6. XM_006724544.2XP_006724607.1  

      Conserved Domains (1) summary
      pfam03062
      Location:150437
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    7. XM_006724545.2XP_006724608.1  

      Conserved Domains (1) summary
      pfam03062
      Location:132419
      MBOAT; MBOAT, membrane-bound O-acyltransferase family
    8. XM_006724547.1XP_006724610.1  

      Conserved Domains (1) summary
      pfam03062
      Location:44331
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      48398612..48410463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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.