PORCN Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | PORCN |
| Official Name | porcupine O-acyltransferase [Source:HGNC Symbol;Acc:HGNC:17652] |
| Ensembl ID | ENSG00000102312 |
| Bio databases IDs | |
| Aliases | porcupine O-acyltransferase |
| Synonyms | 2410004O13Rik, DHOF, DXHXS7465e, FODH, MG61, mMg61, Mporc, PORC, porcupine O-acyltransferase, PPN, RGD1564947 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PORCN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Wnt-protein binding
- enzyme
- protein binding
- O-acyltransferase
- Non-amino-acyl group acyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic obstructive pulmonary disease
- hyperplasia
- focal dermal hypoplasia
- hereditary disorder
- global developmental delay
- syndactyly
- coloboma
- lung cancer
- tumorigenesis
role in cell
- apoptosis
- proliferation
- expansion
- motility
- downregulation in
- signaling in
- chemotaxis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- glutaminergic synapse
- cellular membrane
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PORCN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Wnt protein secretion
- glycoprotein metabolic process
- protein lipidation
- Wnt receptor signaling pathway
- protein palmitoylation
- protein palmitoleylation
- lipid modification
Cellular Component
Where in the cell the gene product is active
- alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex
- endoplasmic reticulum membrane
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- Wnt-protein binding