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atlastin GTPase tethering membranes through formation of trans- homooligomer and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development. Defects in ATL1 are the cause of spastic paraplegia autosomal dominant type 3 (SPG3); also known as Strumpell-Lorrain syndrome. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Defects in ATL1 are the cause of hereditary sensory neuropathy type 1D (HSN1D). HSN1D is 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. Belongs to the GBP family. Atlastin subfamily. Note: This description may include information from UniProtKB.
Protein type: EC 3.6.5.-; Membrane protein, integral; Membrane protein, multi-pass; Vesicle
Chromosomal Location of Human Ortholog: 14q22.1
Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane; Golgi apparatus; Golgi cis cisterna; integral to membrane
Molecular Function: GTP binding; GTPase activity; identical protein binding; protein binding
Biological Process: axonogenesis; endoplasmic reticulum organization and biogenesis; protein homooligomerization
Disease: Neuropathy, Hereditary Sensory, Type Id; Spastic Paraplegia 3, Autosomal Dominant
Reference #:  Q8WXF7 (UniProtKB)
Alt. Names/Synonyms: AD-FSP; ATL1; ATLA1; atlastin GTPase 1; Atlastin-1; atlastin1; Brain-specific GTP-binding protein; FSP1; GBP-3; GBP3; GTP-binding protein 3; Guanine nucleotide-binding protein 3; guanylate-binding protein 3; hGBP3; Spastic paraplegia 3 protein A; SPG3; SPG3A
Gene Symbols: ATL1
Molecular weight: 63,544 Da
Basal Isoelectric point: 5.82  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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