Recombinant Human Atlastin-1 (ATL1), Truncated

Uniprot Id

Q8WXF7

Target Species

Human

Target Name

ATL1

Target Full Name

Atlastin-1

Target Function

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

Target Involvement

Spastic paraplegia 3, autosomal dominant (SPG3); Neuropathy, hereditary sensory, 1D (HSN1D)

Target Subcellular Location

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Cell projection, axon.

Target Protein Families

TRAFAC class dynamin-like GTPase superfamily, GB1/RHD3-type GTPase family, GB1 subfamily

Target Tissue Specificity

Expressed predominantly in the adult and fetal central nervous system. Measurable expression in all tissues examined, although expression in adult brain is at least 50-fold higher than in other tissues. Detected predominantly in pyramidal neurons in the c

Target Synonyms

ATL1; GBP3; SPG3A; Atlastin-1; Brain-specific GTP-binding protein; GTP-binding protein 3; GBP-3; hGBP3; Guanine nucleotide-binding protein 3; Spastic paraplegia 3 protein A

Target Background

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.