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SH3 and multiple ankyrin repeat domains 2

Shank, Shank2, ProSAP1, ProSAP
This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density (PSD). Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, an SH3 domain, a PSD-95/Dlg/ZO-1 domain, a sterile alpha motif domain, and a proline-rich region. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the PSDs of adult and developing brain. Two alternative splice variants, encoding distinct isoforms, are reported. Additional splice variants exist but their full-length nature has not been determined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: PSD-95, Shank1, CAN, Homer, V1a
Papers on Shank
Synapse alterations in autism: Review of animal model findings.
Ostatnikova et al., Bratislava, Slovakia. In Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub, Feb 2016
RESULTS: The cell adhesion molecules, neurexin, neurolignin and the Shank family of proteins are important molecular targets associated with autism.
Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminals.
Schmeisser et al., Ulm, Germany. In J Neurochem, Feb 2016
UNASSIGNED: Autism-related Shank1, Shank2 and Shank3 are major postsynaptic scaffold proteins of excitatory glutamatergic synapses.
Effect of inhibin gene immunization on antibody production and reproductive performance in Partridge Shank hens.
Xu et al., Nanjing, China. In Theriogenology, Jan 2016
UNASSIGNED: To investigate the effect of inhibin gene immunization on antibody production and reproductive performance in broiler breeder females, Partridge Shank hens aged 380 days were immunized with inhibin recombinant plasmid pcISI.
Shank synaptic scaffold proteins: keys to understanding the pathogenesis of autism and other synaptic disorders.
Verpelli et al., Milano, Italy. In J Neurochem, Dec 2015
Shank/ProSAP proteins are essential to synaptic formation, development, and function.
Depolarization of Hippocampal Neurons Induces Formation of Nonsynaptic NMDA Receptor Islands Resembling Nascent Postsynaptic Densities(1,2,3).
Reese et al., Bethesda, United States. In Eneuro, Nov 2015
Islands exhibit cytoplasmic dense material resembling that at postsynaptic densities (PSDs), and contain typical PSD components, including MAGUKS (membrane-associated guanylate kinases), GKAP, Shank, Homer, and CaMKII detected by pre-embedding immunogold electron microscopy.
SHANK1 and autism spectrum disorders.
Wang et al., Shanghai, China. In Sci China Life Sci, Oct 2015
The Neurexin-Neuroligin-Shank (NRXN-NLGN-SHANK) pathway plays a key role in the formation, maturation and maintenance of synapses, consistent with the hypothesis of neurodevelopmental abnormality in ASD.
PDZ Protein Regulation of G Protein-Coupled Receptor Trafficking and Signaling Pathways.
Ferguson et al., London, Canada. In Mol Pharmacol, Oct 2015
These PDZ domain-containing proteins include the membrane-associated guanylate-like kinases [postsynaptic density protein of 95 kilodaltons; synapse-associated protein of 97 kilodaltons; postsynaptic density protein of 93 kilodaltons; synapse-associated protein of 102 kilodaltons; discs, large homolog 5; caspase activation and recruitment domain and membrane-associated guanylate-like kinase domain-containing protein 3; membrane protein, palmitoylated 3; calcium/calmodulin-dependent serine protein kinase; membrane-associated guanylate kinase protein (MAGI)-1, MAGI-2, and MAGI-3], Na(+)/H(+) exchanger regulatory factor proteins (NHERFs) (NHERF1, NHERF2, PDZ domain-containing kidney protein 1, and PDZ domain-containing kidney protein 2), Golgi-associated PDZ proteins (Gα-binding protein interacting protein, C-terminus and CFTR-associated ligand), PDZ domain-containing guanine nucleotide exchange factors (GEFs) 1 and 2, regulator of G protein signaling (RGS)-homology-RhoGEFs (PDZ domain-containing RhoGEF and leukemia-associated RhoGEF), RGS3 and RGS12, spinophilin and neurabin-1, SRC homology 3 domain and multiple ankyrin repeat domain (Shank) proteins (Shank1, Shank2, and Shank3), partitioning defective proteins 3 and 6, multiple PDZ protein 1, Tamalin, neuronal nitric oxide synthase, syntrophins, protein interacting with protein kinase C α 1, syntenin-1, and sorting nexin 27.
Seven phases of gait detected in real-time using shank attached gyroscopes.
Lee et al., In Conf Proc Ieee Eng Med Biol Soc, Aug 2015
Gyroscopes were attached to each shank.
Roles of linear ubiquitinylation, a crucial regulator of NF-κB and cell death, in the immune system.
Iwai et al., Kyoto, Japan. In Immunol Rev, Jul 2015
Linear ubiquitinylation, a newly identified post-translational modification, is catalyzed by the linear ubiquitin assembly complex (LUBAC), which is composed of three different subunits, HOIL-1L (heme-oxidized IRP2 ligase 1L), HOIP (HOIL-1 interacting protein), and SHARPIN (SHANK-associated RH domain-interacting protein).
Translational neurobiology in Shank mutant mice--model systems for neuropsychiatric disorders.
Schmeisser, Ulm, Germany. In Ann Anat, Jul 2015
The Shank family comprises three core postsynaptic scaffold proteins of excitatory synapses in the mammalian brain: Shank1, Shank2 and Shank3.
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function.
Kim et al., Taejŏn, South Korea. In Nature, 2012
Shank2 (also known as ProSAP1) is a multi-domain scaffolding protein and signalling adaptor enriched at excitatory neuronal synapses, and mutations in the human SHANK2 gene have recently been associated with ASD and intellectual disability.
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2.
Boeckers et al., Ulm, Germany. In Nature, 2012
deletion of ProSAP1/Shank2 results in an early, brain-region-specific upregulation of ionotropic glutamate receptors at the synapse and increased levels of ProSAP2/Shank3
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Bourgeron et al., Paris, France. In Plos Genet, 2012
we confirmed that de novo SHANK2 deletions are present in patients with ASD and showed that several SHANK2 variants reduce the number of synapses in vitro
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.
Rappold et al., Heidelberg, Germany. In Hum Mol Genet, 2012
dominant negative effect translates into dose-dependent altered cognitive behavior of SHANK2-R462X-expressing mice, with an impact on the penetrance of ASD
SHARPIN is a component of the NF-κB-activating linear ubiquitin chain assembly complex.
Iwai et al., Suita, Japan. In Nature, 2011
Spontaneous null mutations in the Sharpin (SHANK-associated RH domain interacting protein in postsynaptic density) gene are responsible for the cpdm phenotype in mice.
Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation.
Boeckers et al., Ulm, Germany. In Embo J, 2011
Concerted action of ProSAP/Shank and Zn(2+) is essential for the structural integrity of the postsynaptic density and an important element in synapse formation, maturation and structural plasticity.
Shank2 redistributes with NaPilla during regulated endocytosis.
Doctor et al., Denver, United States. In Am J Physiol Cell Physiol, 2010
Shank2 is positioned to coordinate the regulated endocytic retrieval and downregulation of Sodium-Phosphate Cotransporter Proteins Type IIa in rat renal proximal tubule cells.
Functional impact of global rare copy number variation in autism spectrum disorders.
Betancur et al., Toronto, Canada. In Nature, 2010
Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus.
Another piece of the autism puzzle.
State, In Nat Genet, 2010
A new study has identified rare de novo mutations in SHANK2 in individuals with autism and/or mental retardation.
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