Seroatlas · Human Serome Atlas

PORCN

Protein-serine O-palmitoleoyltransferase porcupine

Also known as: DHOF, MG61, por, PORC, PORCN_HUMAN, PPN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9H237
Gene
PORCN
Ensembl
ENSG00000102312
Chromosome
X
Canonical length
461 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Vesicles

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

461 residues, UniProt reviewed canonical sequence.

>Q9H237|PORCN
     1  MATFSRQEFF QQLLQGCLLP TAQQGLDQIW LLLAICLACR LLWRLGLPSY LKHASTVAGG
    61  FFSLYHFFQL HMVWVVLLSL LCYLVLFLCR HSSHRGVFLS VTILIYLLMG EMHMVDTVTW
   121  HKMRGAQMIV AMKAVSLGFD LDRGEVGTVP SPVEFMGYLY FVGTIVFGPW ISFHSYLQAV
   181  QGRPLSCRWL QKVARSLALA LLCLVLSTCV GPYLFPYFIP LNGDRLLRNK KRKARGTMVR
   241  WLRAYESAVS FHFSNYFVGF LSEATATLAG AGFTEEKDHL EWDLTVSKPL NVELPRSMVE
   301  VVTSWNLPMS YWLNNYVFKN ALRLGTFSAV LVTYAASALL HGFSFHLAAV LLSLAFITYV
   361  EHVLRKRLAR ILSACVLSKR CPPDCSHQHR LGLGVRALNL LFGALAIFHL AYLGSLFDVD
   421  VDDTTEEQGY GMAYTVHKWS ELSWASHWVT FGCWIFYRLI G

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PORCN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
8
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
31 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 31 nTPM
  • cerebellum: 19 nTPM
  • cerebral cortex: 14 nTPM
  • basal ganglia: 12 nTPM
  • hippocampal formation: 10 nTPM
  • seminal vesicle: 10 nTPM

Single-cell type

  • esophageal apical cells: 100 nCPM
  • adrenal cortex cells: 43 nCPM
  • endometrial secretory cells: 26 nCPM
  • endometrial glandular cells: 17 nCPM
  • endometrial ciliated cells: 15 nCPM
  • conjunctival goblet cells: 15 nCPM

Immune cell

  • basophil: 17 nTPM
  • gdT-cell: 11 nTPM
  • memory CD8 T-cell: 8.7 nTPM
  • NK-cell: 8.4 nTPM
  • MAIT T-cell: 8.3 nTPM
  • memory CD4 T-cell: 7 nTPM

Brain region

  • hippocampal formation: 21 nTPM
  • cerebral cortex: 17 nTPM
  • basal ganglia: 15 nTPM
  • hypothalamus: 14 nTPM
  • white matter: 13 nTPM
  • pons: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PORCN.

Disease | AllUniProt

Conditions PORCN is implicated in, by any mechanism.

Disease | GeneticClinVar

66 pathogenic / likely-pathogenic of 272 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on PORCN was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.14
gnomAD pLI
1
gnomAD missense Z
2.37
DepMap mean gene effect
0
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PORCN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PORCN as an antibody target. Whether an autoantibody or antibody against PORCN could matter depends on whether native PORCN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PORCN is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PORCN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PORCN. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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