Aliases for SHANK1 Gene
External Ids for SHANK1 Gene
Previous GeneCards Identifiers for SHANK1 Gene
This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]
GeneCards Summary for SHANK1 Gene
SHANK1 (SH3 And Multiple Ankyrin Repeat Domains 1) is a Protein Coding gene. Diseases associated with SHANK1 include Autism Spectrum Disorder and Schizophrenia 15. Among its related pathways are Circadian entrainment and Protein-protein interactions at synapses. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein C-terminus binding. An important paralog of this gene is SHANK3.
UniProtKB/Swiss-Prot Summary for SHANK1 Gene
Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction.