NXPH1 (Neurexophilin 1)
A secreted glycoprotein involved in synaptic organization and neurodevelopmental disorders
Gene Information Card
| Symbol | NXPH1 |
|---|---|
| Full Name | Neurexophilin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 30010 ncbi.nlm.nih.gov/gene/30010 |
| Ensembl ID | ENSG00000106384 |
| UniProt ID | O95156 |
| OMIM ID | 604639 |
| HGNC ID | 8080 |
| Aliases | NPH1, neurexophilin-1 |
Description
NXPH1 encodes neurexophilin 1, a secreted glycoprotein that binds to neurexins (NRXN1, NRXN2, NRXN3) at synapses. It is primarily expressed in the brain and plays a role in synaptic differentiation, neurotransmitter release, and neural circuit formation. Mutations and altered expression have been linked to neurodevelopmental disorders including autism spectrum disorder and schizophrenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autism spectrum disorder | Altered synaptic adhesion via neurexin binding; rare variants may disrupt protein secretion or binding | ClinVar, OMIM |
| Schizophrenia | Dysregulation of NXPH1 expression in prefrontal cortex; genetic association studies | NCBI Gene, PubMed |
| Intellectual disability | Homozygous loss-of-function variants reported in consanguineous families | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Testis | 1.2 | Not detected |
| Heart | 0.5 | Not detected |
| Liver | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 9.8 | Glial model |
| HEK293 (embryonic kidney) | 0.3 | Non-neuronal |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.442C>T (p.Arg148*) | Nonsense | <0.01% | Loss of function; premature truncation |
| c.625G>A (p.Gly209Ser) | Missense | 0.02% | Unknown; predicted damaging by SIFT |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of function; no protein produced |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss variants lead to truncated or absent protein, reducing synaptic neurexin binding.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • synaptic signaling | • cell adhesion |
| • protein binding | • extracellular region |
| • neuropeptide signaling pathway |
Pathways
• Neurexin-neuroligin signaling
• Synaptic vesicle cycle
Protein Summary
Neurexophilin 1 is a 271-amino-acid secreted glycoprotein with an N-terminal signal peptide, a central domain, and a C-terminal neurexin-binding region. It is expressed predominantly in neurons and localizes to the synaptic cleft, where it modulates neurexin function. The protein undergoes proteolytic processing and glycosylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NXPH1 Knockout HEK293 Cell Line | EDJ-KQ9134 | Human | 30010 | Details Get a Quote |
| NXPH1 Knockout HeLa Cell Line | EDJ-KQ56144 | Human | 30010 | Details Get a Quote |
| NXPH1 Knockout A-549 Cell Line | EDJ-KQ64632 | Human | 30010 | Details Get a Quote |
| NXPH1 Knockout HCT 116 Cell Line | EDJ-KQ73083 | Human | 30010 | Details Get a Quote |
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