Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Shank3. (This text reflects annotations as of Tuesday, July 8, 2014.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. [provided by RefSeq, Mar 2012]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Shank3
  • participates in the following biological processes:
    • negative regulation of actin filament bundle assembly ^[]
  • is located in the following cellular components:
    • neuron projection ^[]
    • neuron spine ^[]
    • plasma membrane ^[]
• Researchers have inferred, based on physical interactions, that the gene product of Shank3
  • performs the following molecular functions:
    • ionotropic glutamate receptor binding ^{[, ]}
    • protein C-terminus binding ^[]
    • scaffold protein binding ^[]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Shank3
  • participates in the following biological processes:
    • alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering ^{[, ]}
    • brain morphogenesis ^[]
    • dendritic spine morphogenesis ^{[, , ]}
    • guanylate kinase-associated protein clustering ^[]
    • learning ^[]
    • locomotory exploration behavior ^{[, ]}
    • memory ^[]
    • N-methyl-D-aspartate receptor clustering ^[]
    • negative regulation of cell volume ^[]
    • neuromuscular process controlling balance ^[]
    • positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity ^[]
    • positive regulation of dendritic spine development ^[]
    • positive regulation of excitatory postsynaptic membrane potential ^{[, , ]}
    • positive regulation of glutamate receptor signaling pathway ^[]
    • positive regulation of long-term neuronal synaptic plasticity ^[]
    • positive regulation of synapse structural plasticity ^[]
    • positive regulation of synaptic transmission, glutamatergic ^{[, , ]}
    • postsynaptic density assembly ^[]
    • regulation of behavioral fear response ^[]
    • regulation of dendritic spine morphogenesis ^[]
    • regulation of grooming behavior ^{[, ]}
    • regulation of long term synaptic depression ^[]
    • regulation of long-term synaptic potentiation ^[]
    • social behavior ^{[, , ]}
    • striatal medium spiny neuron differentiation ^[]
    • synapse assembly ^[]
    • vocalization behavior ^{[, ]}
• Researchers have inferred, based on genetic interactions, that the gene product of Shank3
  • participates in the following biological processes:
    • embryonic epithelial tube formation based on interactions with Ret ^[]
    • MAPK cascade based on interactions with Grb2, Ret ^[]
  • is located in the following cellular components:
    • intracellular based on interactions with Grb2, Ret ^[]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Shank3
  • is located in the following cellular components:
    • excitatory synapse ^[]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Shank3:
  • participates in the following biological processes:
    • adult behavior
    • learning
    • positive regulation of glutamate receptor signaling pathway
    • protein oligomerization
    • social behavior
    • vocal learning
    • vocalization behavior
  • performs the following molecular functions:
    • GKAP/Homer scaffold activity
    • identical protein binding
    • protein C-terminus binding
    • protein self-association
    • scaffold protein binding
    • SH3 domain binding
    • zinc ion binding
  • is located in the following cellular components:
    • ciliary membrane
    • neuronal postsynaptic density
    • postsynaptic density
    • synapse

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Shank3 indicates that it:
  • performs the following molecular functions:
    • actin binding
  • is located in the following cellular components:
    • cell junction
    • cell projection
    • cytoplasm
    • membrane
    • postsynaptic membrane

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References

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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