SHANK1 is a scaffold protein that plays a critical role in the formation and maintenance of excitatory synapses in the brain. Mutations in the SHANK1 gene have been implicated in a number of neurodevelopmental disorders, including autism spectrum disorder (ASD), schizophrenia, and intellectual disability.

Mar 30, 2025 · SHANK1 (SH3 And Multiple Ankyrin Repeat Domains 1) is a Protein Coding gene. Diseases associated with SHANK1 include Cleft Palate, Isolated and Autism Spectrum Disorder. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses.

Apr 6, 2022 · SHANK family genes (SHANK1/2/3) are well known ASD-related genes. However, little is known about how SHANK missense mutations contribute to ASD. Here, we aimed to clarify the molecular mechanism of...

Feb 9, 2017 · SH3 and multiple ankyrin repeat domains proteins (SHANKs) are encoded by SHANK1, SHANK2 and SHANK3 genes. The three different SHANK genes can produce multiple protein isoforms that are...

Oct 18, 2022 · SH3 and multiple ankyrin repeat domains protein (SHANK) 1, SHANK2, and SHANK3 encode a family of postsynaptic scaffolding proteins present at glutamatergic synapses and play a crucial role in...

May 4, 2012 · We identify a hemizygous SHANK1 deletion that segregates in a four-generation family in which male carriers—but not female carriers—have ASD with higher functioning.

Here, we investigate the role of Shanks in regulating glutamatergic synaptic transmission at rat hippocampal SC-CA1 synapses, using lentivirus-mediated knockdown and molecular replacement combined with dual whole-cell patch clamp in hippocampal slice culture.

Recently, deletions and point mutations of the SHANK1 gene have been detected in ASD individuals, indicating the involvement of SHANK1 in ASD. This review focuses on the function of SHANK1 protein, Shank1 mouse models, and the molecular genetics of the …

Feb 8, 2025 · Results show that dendritic targeting of shank1 mRNA granules involves KIF5C and the KIF5-associated RNA-binding protein staufen1. This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins.

Members of the SHANK family, such as SHANK1, are enriched in the postsynaptic density (PSD) of central excitatory synapses. SHANK proteins contain multiple protein interaction domains and function as scaffold proteins for various postsynaptic molecules (summary by Hung et al., 2008).