ATL1

The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene.

Full Name

Atlastin GTPase 1

Function

GTPase tethering membranes through formation of trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis (PubMed:27619977).
May also regulate Golgi biogenesis. May regulate axonal development.

Biological Process

Axonogenesis Source: UniProtKB
Endoplasmic reticulum organization Source: UniProtKB
Endoplasmic reticulum tubular network membrane organization Source: UniProtKB
Protein homooligomerization Source: UniProtKB

Cellular Location

Golgi apparatus membrane; Endoplasmic reticulum membrane; Axon. Localizes to endoplasmic reticulum tubular network (PubMed:27619977).

Involvement in disease

Spastic paraplegia 3, autosomal dominant (SPG3): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Neuropathy, hereditary sensory, 1D (HSN1D): A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement.

Topology

Cytoplasmic: 1-449 aa
Helical: 450-470 aa
Lumenal: 471 aa
Helical: 472-492 aa
Cytoplasmic: 493-558 aa