FEZ1 Gene (Fasciculation and Elongation Protein Zeta 1)
A key regulator of neuronal development and axonal outgrowth
Gene Information Card
| Symbol | FEZ1 |
|---|---|
| Full Name | Fasciculation and Elongation Protein Zeta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q24.2 |
| NCBI Gene ID | 9638 ncbi.nlm.nih.gov/gene/9638 |
| Ensembl ID | ENSG00000149557 |
| UniProt ID | Q99689 |
| OMIM ID | 604826 |
| HGNC ID | 3659 |
| Aliases | ZNF312, ZNF312a |
Description
FEZ1 (Fasciculation and Elongation Protein Zeta 1) is a protein-coding gene that plays a critical role in neuronal development, particularly in axonal outgrowth and fasciculation. The encoded protein interacts with the kinesin motor protein KIF1A to transport synaptic vesicle precursors along axons. FEZ1 is also involved in the regulation of autophagy and has been implicated in psychiatric disorders such as schizophrenia and bipolar disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | FEZ1 expression is reduced in the prefrontal cortex, potentially impairing synaptic vesicle transport and neuronal connectivity. | NCBI Gene, OMIM |
| Bipolar Disorder | Altered FEZ1 expression levels have been observed in postmortem brain studies, suggesting a role in mood regulation. | NCBI Gene, OMIM |
| Major Depressive Disorder | Dysregulation of FEZ1 in the hippocampus may contribute to synaptic dysfunction. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.5 | High |
| Testis | 15.3 | Medium |
| Spinal Cord | 12.8 | Medium |
| Heart | 8.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 25.0 | High expression; used in neuronal differentiation studies |
| HEK293 (embryonic kidney) | 12.0 | Moderate expression; common for recombinant protein studies |
| HeLa (cervical carcinoma) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; rare variant reported in ClinVar |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown; no functional data available |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • axon guidance (GO:0007411) | • anterograde axonal transport (GO:0008089) |
| • autophagy (GO:0006914) | • protein binding (GO:0005515) |
| • cytoplasm (GO:0005737) |
Pathways
• KEGG: hsa04724 (Glutamatergic synapse)
• Reactome: R-HSA-112316 (Neuronal System)
Protein Summary
The FEZ1 protein is a 392-amino acid cytoplasmic protein that contains a coiled-coil domain and a leucine zipper motif. It functions as an adaptor linking kinesin motors to cargo vesicles, essential for axonal transport. FEZ1 also interacts with the autophagy protein LC3, suggesting a role in autophagosome formation. Its expression is enriched in the nervous system, and alterations are linked to neuropsychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FEZ1 Knockout HEK293 Cell Line | EDJ-KQ6670 | Human | 9638 | Details Get a Quote |
| FEZ1 Knockout HCT 116 Cell Line | EDJ-KQ30980 | Human | 9638 | Details Get a Quote |
| FEZ1 Knockout A-549 Cell Line | EDJ-KQ29624 | Human | 9638 | Details Get a Quote |
| FEZ1 Knockout HeLa Cell Line | EDJ-KQ55215 | Human | 9638 | Details Get a Quote |
