NPTN Gene Summary [Human]
This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]
Details
| Type | Protein Coding |
| Official Symbol | NPTN |
| Official Name | neuroplastin [Source:HGNC Symbol;Acc:HGNC:17867] |
| Ensembl ID | ENSG00000156642 |
| Bio databases IDs | |
| Aliases | neuroplastin |
| Synonyms | GP55, GP65, NEUROPLASTIN, NEUROPLASTIN-65, np55, NP-65, SCDF1R, SDFR1, SDR-1 |
| 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 NPTN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- type 1 fibroblast growth factor receptor binding
- immunoglobulin domain
- cell adhesion molecule binding
- Immunoglobulin like
- ion channel binding
- Immunoglobulin I-set domain
- protein binding
- T-cell surface glycoprotein CD3 delta chain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- early sensorineural hearing loss
- Parkinson disease
role in cell
- expression in
- proliferation
- quantity
- phosphorylation in
- formation
- development
- adhesion
- abnormal morphology
- organization
- elevation in
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
- glutaminergic synapse
- cell surface
- postsynaptic region
- membrane surface
- cellular membrane
- immunological synapses
- presynaptic membrane
- postsynaptic membrane
- synaptic membrane
- synaptic vesicles
- neurites
- synapse
- brush border
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NPTN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of protein phosphorylation
- positive regulation of fibroblast growth factor receptor signaling pathway
- positive regulation of neuron projection development
- long-term synaptic potentiation
- homophilic cell adhesion
- negative regulation of cytokine production
- elevation of cytosolic calcium ion concentration
- cellular calcium ion homeostasis
- positive regulation of long-term neuronal synaptic plasticity
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- postsynaptic density
- cell surface
- immunological synapse
Molecular Function
What the gene product does at the molecular level
- protein binding
- cell adhesion molecule binding
- type 1 fibroblast growth factor receptor binding