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

Gene ID: 64840, updated on 23-May-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 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?

Associated conditions

Description Tests
Focal dermal hypoplasia
MedGen: C0016395 OMIM: 305600 GeneReviews: Focal Dermal Hypoplasia
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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
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
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective 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
protein-serine O-palmitoleoyltransferase porcupine
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

    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.