NSMF (NMDA Receptor Synaptonuclear Signaling And Neuronal Migration Factor)
A key regulator of neuronal migration and NMDA receptor signaling, implicated in Kallmann syndrome and idiopathic hypogonadotropic hypogonadism.
Gene Information Card
| Symbol | NSMF |
|---|---|
| Full Name | NMDA receptor synaptonuclear signaling and neuronal migration factor |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 26047 ncbi.nlm.nih.gov/gene/26047 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q9H1Z8 |
| OMIM ID | 608137 |
| HGNC ID | 29812 |
| Aliases | NELF, HCA67, MGC138499, MGC138500 |
Description
The NSMF gene encodes a protein that functions as a signaling factor involved in NMDA receptor-mediated synaptonuclear communication and neuronal migration. It is essential for the development of the olfactory system and gonadotropin-releasing hormone (GnRH) neurons. Mutations in NSMF are associated with Kallmann syndrome and idiopathic hypogonadotropic hypogonadism, characterized by anosmia and delayed puberty.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Kallmann syndrome | Loss-of-function mutations impair GnRH neuron migration from the olfactory placode to the hypothalamus. | ClinVar, OMIM |
| Idiopathic hypogonadotropic hypogonadism | Disrupted NSMF signaling leads to deficient GnRH secretion and hypogonadism. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Ovary | 6.1 | Low |
| Lung | 4.2 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 9.7 | Embryonic kidney cells |
| HeLa | 5.4 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.349C>T (p.Arg117*) | nonsense | Rare | Premature truncation, loss of function |
| c.502G>A (p.Gly168Arg) | missense | Rare | Impaired protein function |
Mutation functional classification
Loss of Function (LOF)
Most reported NSMF mutations are loss-of-function, leading to impaired GnRH neuron migration and hypogonadotropic hypogonadism.
Gain of Function (GOF)
No gain-of-function mutations have been reported for NSMF.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for NSMF.
View complete mutation data：
Gene Ontology (GO)
| • nucleus | • cytoplasm |
| • synapse | • protein binding |
| • NMDA receptor activity | • neuron migration |
| • signal transduction |
Pathways
• GnRH signaling pathway
• NMDA receptor signaling
Protein Summary
The NSMF protein (also known as NELF) is a 530-amino acid protein that shuttles between the synapse and nucleus in response to NMDA receptor activation. It regulates gene expression involved in neuronal migration and synaptic plasticity. The protein contains a nuclear localization signal and interacts with transcription factors to modulate target genes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NSMF Knockout HEK293 Cell Line | EDJ-KQ8353 | Human | 26012 | Details Get a Quote |
| NSMF Knockout A-549 Cell Line | EDJ-KQ33037 | Human | 26012 | Details Get a Quote |
| NSMF Knockout HCT 116 Cell Line | EDJ-KQ34377 | Human | 26012 | Details Get a Quote |
| NSMF Knockout HeLa Cell Line | EDJ-KQ34378 | Human | 26012 | Details Get a Quote |
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