ATL1 Gene - Atlastin-1
Key regulator of endoplasmic reticulum morphology and hereditary spastic paraplegia pathogenesis
Gene Information Card
| Symbol | ATL1 |
|---|---|
| Full Name | Atlastin GTPase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.1 |
| NCBI Gene ID | 51062 ncbi.nlm.nih.gov/gene/51062 |
| Ensembl ID | ENSG00000198513 |
| UniProt ID | Q8WXF7 |
| OMIM ID | 606439 |
| HGNC ID | 11231 |
| Aliases | SPG3A, GBP3, FKSG18 |
Description
The ATL1 gene encodes atlastin-1, a member of the dynamin family of large GTPases. Atlastin-1 is primarily expressed in the central nervous system and localizes to the endoplasmic reticulum (ER) and Golgi apparatus. It mediates homotypic ER fusion and is essential for maintaining ER morphology and network formation. Mutations in ATL1 cause hereditary spastic paraplegia type 3A (SPG3A), an autosomal dominant neurodegenerative disorder characterized by progressive lower limb spasticity and weakness.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia 3A (SPG3A) | Impaired ER fusion due to GTPase domain mutations leads to ER fragmentation and axonal degeneration | ClinVar, OMIM |
| Hereditary sensory neuropathy type 1D | Dominant-negative mutations disrupt ER morphology and sensory neuron function | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 12.5 | Medium |
| Cerebellum | 15.2 | Medium |
| Spinal cord | 18.7 | High |
| Testis | 6.3 | Low |
| Heart | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.8 | Neuronal model |
| U-87 MG (glioblastoma) | 9.2 | Glial model |
| HEK 293 (embryonic kidney) | 3.5 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.776C>T (p.Ser259Leu) | Missense | Common in SPG3A | Impaired GTPase activity and ER fusion |
| c.1483C>T (p.Arg495Trp) | Missense | Rare | Dominant-negative effect on ER network |
| c.715G>A (p.Glu239Lys) | Missense | Reported in SPG3A | Reduced GTP binding |
Mutation functional classification
Loss of Function (LOF)
Not typical; heterozygous loss insufficient for disease
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Most pathogenic missense mutations act via dominant-negative mechanism, disrupting ER fusion
View complete mutation data：
Gene Ontology (GO)
| • GTPase activity | • GTP binding |
| • Endoplasmic reticulum membrane | • ER fusion |
| • Golgi apparatus | • Neuron projection |
Pathways
• Endoplasmic reticulum membrane fusion
• Endoplasmic reticulum to Golgi vesicle-mediated transport
Protein Summary
Atlastin-1 is a 558-amino acid protein with an N-terminal GTPase domain, a middle domain, and two C-terminal transmembrane domains. It forms homodimers and catalyzes GTP-dependent tethering and fusion of ER membranes. The protein is critical for maintaining the tubular ER network in neurons, and its dysfunction leads to axonal degeneration in hereditary spastic paraplegia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATL1 Knockout HEK293 Cell Line | EDJ-KQ10897 | Human | 51062 | Details Get a Quote |
| ATL1 Knockout HCT 116 Cell Line | EDJ-KQ37308 | Human | 51062 | Details Get a Quote |
| ATL1 Knockout A-549 Cell Line | EDJ-KQ38600 | Human | 51062 | Details Get a Quote |
| ATL1 Knockout HeLa Cell Line | EDJ-KQ38602 | Human | 51062 | Details Get a Quote |
