Aliases for CLSTN1 Gene
External Ids for CLSTN1 Gene
Previous GeneCards Identifiers for CLSTN1 Gene
This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
GeneCards Summary for CLSTN1 Gene
CLSTN1 (Calsyntenin 1) is a Protein Coding gene. Diseases associated with CLSTN1 include corneal dystrophy, schnyder type and dravet syndrome. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include calcium ion binding and beta-amyloid binding. An important paralog of this gene is CLSTN3.
UniProtKB/Swiss-Prot for CLSTN1 Gene
Induces KLC1 association with vesicles and functions as a cargo in axonal anterograde transport. Complex formation with APBA2 and APP, stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation. In complex with APBA2 and C99, a C-terminal APP fragment, abolishes C99 interaction with PSEN1 and thus APP C99 cleavage by gamma-secretase, most probably through stabilization of the direct interaction between APBA2 and APP. The intracellular fragment AlcICD suppresses APBB1-dependent transactivation stimulated by APP C-terminal intracellular fragment (AICD), most probably by competing with AICD for APBB1-binding. May modulate calcium-mediated postsynaptic signals (By similarity).