Recombinant Human SH3 and multiple ankyrin repeat domains protein 3 (SHANK3), Truncated

Uniprot Id

Q9BYB0

Target Species

Human

Target Name

SHANK3

Target Full Name

SH3 and multiple ankyrin repeat domains protein 3

Target Function

Major scaffold postsynaptic density protein which interacts with multiple proteins and complexes to orchestrate the dendritic spine and synapse formation, maturation and maintenance. 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 through the interaction with Arp2/3 and WAVE1 complex as well as the promotion of the F-actin clusters. By way of this control of actin dynamics, participates in the regulation of developing neurons growth cone motility and the NMDA receptor-signaling. Also modulates GRIA1 exocytosis and GRM5/MGLUR5 expression and signaling to control the AMPA and metabotropic glutamate receptor-mediated synaptic transmission and plasticity. May be required at an early stage of synapse formation and be inhibited by IGF1 to promote synapse maturation

Target Involvement

Phelan-McDermid syndrome (PHMDS); Schizophrenia 15 (SCZD15)

Target Subcellular Location

Cytoplasm. Cell junction, synapse, postsynaptic density. Cell projection, dendritic spine.

Target Tissue Specificity

Expressed in the cerebral cortex and the cerebellum.

Target Synonyms

AI841104; DEL22q13.3; KIAA1650; Proline rich synapse associated protein 2; Proline-rich synapse-associated protein 2; ProSAP2; PSAP2; SH3 and multiple ankyrin repeat domains 3; SH3 and multiple ankyrin repeat domains protein 3; SH3/ankyrin domain gene 3; SHAN3_HUMAN; Shank postsynaptic density protein; Shank3; Shank3b; SPANK 2; SPANK2

Target Background

This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified.