ENPP7 Gene Summary [Human]
The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]
Details
| Type | Protein Coding |
| Official Symbol | ENPP7 |
| Official Name | ectonucleotide pyrophosphatase/phosphodiesterase 7 [Source:HGNC Symbol;Acc:HGNC:23764] |
| Ensembl ID | ENSG00000182156 |
| Bio databases IDs | |
| Aliases | ectonucleotide pyrophosphatase/phosphodiesterase 7, alkaline sphingomyelinase |
| Synonyms | ALK-SMase, ectonucleotide pyrophosphatase/phosphodiesterase 7, Gm254, HSPDE7A1, Intestinal alkaline sphingomyelinase, NPP-7 |
| 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 ENPP7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alkaline phosphatases and sulfatases
- Type I phosphodiesterase / nucleotide pyrophosphatase
- zinc ion binding
- sphingomyelin phosphodiesterase
- Sulfatase
- enzyme
- protein binding
- phosphoric diester hydrolase
Pathways
Biological processes and signaling networks where the ENPP7 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- migraines
- focal cortical dysplasia type I
- intrahepatic cholestasis of pregnancy
role in cell
- proliferation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- Golgi Apparatus
- microvilli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ENPP7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid digestion
- negative regulation of cell proliferation
- fatty acid homeostasis
- glycosphingolipid catabolic process
- sphingomyelin metabolic process
- positive regulation of intestinal cholesterol absorption
- negative regulation of DNA replication
- positive regulation of sphingomyelin catabolic process
- positive regulation of ceramide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- microvillus
- membrane
- Golgi apparatus
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- sphingomyelin phosphodiesterase activity
- protein binding
- phosphoric diester hydrolase activity