ATL1 : atlastin GTPase 1
Description
The ATL1 (atlastin GTPase 1) is a protein-coding gene located on chromosome 14.
The ATL1 gene provides instructions for producing a protein called atlastin-1. Atlastin-1 is produced primarily in the brain and spinal cord (central nervous system), particularly in nerve cells (neurons) that extend down the spinal cord (corticospinal tracts). These neurons send electrical signals that lead to voluntary muscle movement. In neurons, this protein is found mainly in the endoplasmic reticulum, which is a structure involved in protein processing and distribution. Atlastin-1 fuses together the network of tubules that make up the structure of the endoplasmic reticulum. Atlastin-1 is also active in compartments called axonal growth cones, which are located at the tip of neurons. The axonal growth cones direct the growth of specialized extensions, called axons, which transmit nerve impulses that signal muscle movement. Within axonal growth cones, atlastin-1 acts during development to help guide the growth of axons.
Atlastin-1 is a GTPase that tethers membranes by forming trans-homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. It functions in endoplasmic reticulum tubular network biogenesis. Atlastin-1 may also regulate Golgi biogenesis and axonal development.
ATL1 is also known as AD-FSP, FSP1, GBP3, HSN1D, SPG3, SPG3A, atlastin1.
Associated Diseases
- Autosomal dominant spastic paraplegia type 3
- Neuropathy, hereditary sensory, type ID
- Spastic paraplegia 3, autosomal dominant
- Hereditary sensory and autonomic neuropathy type 1
- Spastic paraplegia type 3A
