Aliases for ATL1 Gene
External Ids for ATL1 Gene
Previous HGNC Symbols for ATL1 Gene
Previous GeneCards Identifiers for ATL1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for ATL1 Gene
ATL1 (Atlastin GTPase 1) is a Protein Coding gene. Diseases associated with ATL1 include spastic paraplegia 3 and spastic paraplegia 3a, autosomal dominant. Among its related pathways are Immune System and Interleukin receptor SHC signaling. GO annotations related to this gene include identical protein binding and GTPase activity. An important paralog of this gene is ATL2.
UniProtKB/Swiss-Prot for ATL1 Gene
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.