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

Gene ID: 64840, updated on 7-Aug-2014
Official Symbol
PORCNprovided by HGNC
Official Full Name
porcupine homolog (Drosophila)provided by HGNC
Primary source
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]
See PORCN in Epigenomics, MapViewer
Location:
Xp11.23
Exon count:
15
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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)

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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 ...
  • 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
transferase activity, transferring acyl groups IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
glycoprotein metabolic process IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein-cysteine N-palmitoyltransferase porcupine
Names
protein-cysteine N-palmitoyltransferase 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 

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

mRNA and Protein(s)

  1. NM_001282167.1NP_001269096.1  protein-cysteine N-palmitoyltransferase porcupine isoform F

    See proteins identical to 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
    B7ZAR3
    UniProtKB/Swiss-Prot
    Q9H237
    Conserved Domains (1) summary
    pfam03062
    Location:44320
    Blast Score: 296
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  2. NM_022825.3NP_073736.2  protein-cysteine N-palmitoyltransferase porcupine isoform A

    See proteins identical to 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
    Blast Score: 292
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  3. NM_203473.2NP_982299.1  protein-cysteine N-palmitoyltransferase porcupine isoform B

    See proteins identical to 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
    Blast Score: 308
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  4. NM_203474.1NP_982300.1  protein-cysteine N-palmitoyltransferase porcupine isoform C

    See proteins identical to 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
    ENSP00000347207, ENST00000355092
    Conserved Domains (1) summary
    pfam03062
    Location:115396
    Blast Score: 305
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  5. NM_203475.2NP_982301.1  protein-cysteine N-palmitoyltransferase porcupine isoform D

    See proteins identical to 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
    Blast Score: 332
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

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

mRNA and Protein(s)

  1. XM_006724542.1XP_006724605.1  

    See proteins identical to XP_006724605.1

    Conserved Domains (1) summary
    pfam03062
    Location:228515
    Blast Score: 345
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  2. XM_005272635.1XP_005272692.1  

    Conserved Domains (1) summary
    pfam03062
    Location:228510
    Blast Score: 322
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  3. XM_005272636.1XP_005272693.1  

    See proteins identical to XP_005272693.1

    Conserved Domains (1) summary
    pfam03062
    Location:228504
    Blast Score: 306
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  4. XM_005272637.1XP_005272694.1  

    Conserved Domains (1) summary
    pfam03062
    Location:199486
    Blast Score: 349
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  5. XM_006724543.1XP_006724606.1  

    Conserved Domains (1) summary
    pfam03062
    Location:179466
    Blast Score: 351
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  6. XM_006724546.1XP_006724609.1  

    See proteins identical to XP_006724609.1

    UniProtKB/Swiss-Prot
    Q9H237
    Conserved Domains (1) summary
    pfam03062
    Location:115402
    Blast Score: 332
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  7. XM_006724545.1XP_006724608.1  

    Conserved Domains (1) summary
    pfam03062
    Location:132419
    Blast Score: 350
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  8. XM_006724544.1XP_006724607.1  

    Conserved Domains (1) summary
    pfam03062
    Location:150437
    Blast Score: 336
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  9. XM_006724548.1XP_006724611.1  

    Conserved Domains (1) summary
    pfam03062
    Location:1264
    Blast Score: 295
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  10. XM_006724547.1XP_006724610.1  

    Conserved Domains (1) summary
    pfam03062
    Location:44331
    Blast Score: 337
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    46031022..46042328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    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.