NPTX1 Gene Summary [Human]
NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | NPTX1 |
| Official Name | neuronal pentraxin 1 [Source:HGNC Symbol;Acc:HGNC:7952] |
| Ensembl ID | ENSG00000171246 |
| Bio databases IDs | |
| Aliases | neuronal pentraxin 1 |
| Synonyms | D11Bwg1004e, NEURONAL PENTRAXIN, NEURONAL PENTRAXIN 1, NP1, SCA50 |
| 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 NPTX1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Concanavalin A-like lectin/glucanases superfamily
- LamG
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- Alzheimer disease
- spinocerebellar ataxia type 50
- autosomal dominant cerebellar ataxia
- hereditary disorder
- hypersensitive reaction
- medulloblastoma
- brain cancer
- migraines
- hyperalgesia
role in cell
- transport in
- apoptosis
- number
- expression in
- cell death
- fragmentation
- accumulation in
- chemotaxis
- assembly
- outgrowth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- glutaminergic synapse
- cell surface
- Nucleus
- synaptic vesicles
- growth cone
- neurites
- axon initial segments
- synapse
- secretory vesicles
- secretory granules
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NPTX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- axonogenesis involved in innervation
- central nervous system development
- mitochondrial transport
- cellular response to glucose stimulus
- synaptic transmission
- postsynaptic density assembly
- mitochondrial fragmentation involved in apoptotic process
- cellular response to potassium ion
Cellular Component
Where in the cell the gene product is active
- synaptic cleft
- endoplasmic reticulum
- transport vesicle
Molecular Function
What the gene product does at the molecular level
- metal ion binding