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Description

Atlastin-1 (UniProt Q8WXF7, also known as Brain-specific GTP-binding protein, GBP-3, GTP-binding protein 3, Guanine nucleotide-binding protein 3, hGBP3, Spastic paraplegia 3 protein A) is encoded by the ATL1 (also known as GBP3, HSN1D, SPG3, SPG3A) gene (Gene ID 51062) in human. Atlastin-1 is a dynamin/Mx/guanylate-binding protein superfamily member with three conserved guanylate-binding/GTPase active site motifs, P-loop (a.a. 74-81), DxxG (a.a. 146-149), and RD (217-218). Atlastin-1 is a multimeric integral membrane protein localized on ER and cis-Golgi apparatus and widely expressed in many tissues, including the smooth muscle, adrenal gland, kidney, testis, lung, and brain. Atlastin-1 interacts with the microtubule-severing ATPase spastin as well as with the DP1/Yop1p and reticulon families of ER-shaping proteins, Atlastin-1 knockdown results in decreased number of neuronal processes and impaired axon formation in cultured cortical neurons, while atlastin-1 overexpression increases total dendrite length both in vivo and in vitro. ALT1 gene mutations cause abnormal ER morphology and are linked to hereditary spastic paraplegias (HSPs), a genetically heterogeneous group of neurological disorders, includiing SPG3 (spastic paraplegia 3, autosomal dominan) and HSN1D (neuropathy, hereditary sensory, 1D), characterized by lower limb spasticity and weakness. Human atlastin-1 is a 492-amino acid protein that passes through the ER membrane twice (a.a. 450-470, 472-492), having both its N- and C-terminal ends at the cytoplasmic side (a.a. 1-449, 493-558).