NSG1 (Neuronal Vesicle Trafficking Associated 1)
A key regulator of neuronal endosomal trafficking and synaptic function
Gene Information Card
| Symbol | NSG1 |
|---|---|
| Full Name | Neuronal Vesicle Trafficking Associated 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 27065 ncbi.nlm.nih.gov/gene/27065 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | P42857 |
| OMIM ID | 602472 |
| HGNC ID | 7990 |
| Aliases | NEEP21, D4S234 |
Description
NSG1 (Neuronal Vesicle Trafficking Associated 1), also known as NEEP21, encodes a neuron-specific endosomal protein involved in the trafficking of receptors and ion channels. It regulates recycling endosome function and is critical for synaptic plasticity, neurite outgrowth, and neurotransmitter receptor localization. NSG1 is predominantly expressed in the central nervous system and has been implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered endosomal trafficking affecting synaptic receptor recycling | ClinVar: pathogenic variants reported in patients with intellectual disability |
| Epilepsy | Dysregulation of AMPA receptor trafficking due to NSG1 dysfunction | OMIM: associated with seizure phenotypes |
| Glioblastoma | Overexpression of NSG1 may promote tumor cell migration | COSMIC: somatic mutations observed in CNS tumors |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 45.2 | High |
| Cerebellum | 38.7 | High |
| Hippocampus | 42.1 | High |
| Testis | 5.3 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 52.8 | Neuronal model, high expression |
| U-87 MG (glioblastoma) | 34.5 | Astrocytoma cell line |
| HEK293 (embryonic kidney) | 2.1 | Non-neuronal, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Altered protein stability (ClinVar) |
| c.415G>A (p.Gly139Arg) | Missense | <0.01% | Impaired endosomal trafficking (UniProt) |
| c.532_534del (p.Lys178del) | In-frame deletion | <0.01% | Loss of function (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that disrupt endosomal trafficking and receptor recycling, leading to neuronal dysfunction.
Gain of Function (GOF)
Not well documented; overexpression in glioblastoma may confer gain-of-function in cell migration.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • endocytosis (GO:0006897) |
| • endosomal transport (GO:0016197) | • secretory granule (GO:0030141) |
| • synapse (GO:0045202) | • excitatory synapse (GO:0060076) |
Pathways
• Endosomal recycling pathway (Reactome: R-HSA-432722)
• AMPA receptor trafficking (Reactome: R-HSA-399719)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
NSG1 encodes a 21 kDa neuron-specific endosomal protein (NEEP21) that localizes to early and recycling endosomes. It interacts with SNARE proteins and adaptor complexes to regulate the trafficking of AMPA receptors, L1CAM, and other cargo. NSG1 is essential for synaptic plasticity, learning, and memory. Its dysregulation is linked to neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NSG1 Knockout HEK293 Cell Line | EDJ-KQ8660 | Human | 27065 | Details Get a Quote |
| NSG1 Knockout HeLa Cell Line | EDJ-KQ55993 | Human | 27065 | Details Get a Quote |
| NSG1 Knockout A-549 Cell Line | EDJ-KQ64477 | Human | 27065 | Details Get a Quote |
| NSG1 Knockout HCT 116 Cell Line | EDJ-KQ72936 | Human | 27065 | Details Get a Quote |
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