| Gene Symbol |
SHANK3
|
| Entrez Gene |
85358
|
| Alt Symbol |
DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
SH3 and multiple ankyrin repeat domains 3
|
| Other Description |
SH3 and multiple ankyrin repeat domains protein 3|proline rich synapse associated protein 2|shank postsynaptic density protein
|
| Swissprots |
Q8TET3 D7UT47 Q9BYB0
|
| Accessions |
ABA00478 ADY38945 ADY38946 ADY38947 AFO66271 Q9BYB0 AB051437 BAB33320 AB569469 BAJ09793 AK074038 BAB84864 BC018856 BC045765 BC062987 AAH62987 NM_033517 NP_277052 NM_001080420
|
| 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
|
| Subcellular Location |
Cytoplasm {ECO:0000269|PubMed:24132240}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000269|PubMed:24132240}. Cell projection, dendritic spine {ECO:0000250}. Note=In neuronal cells, extends into the region subjacent to the postsynaptic density (PSD). {ECO:0000250}.
|
| Tissue Specificity |
Expressed in the cerebral cortex and the cerebellum.
|
| Top Pathways |
Glutamatergic synapse
|
