SHANK1


Summary: This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
SH3 and multiple ankyrin repeat domains 1MIM:604999Ensembl:ENSG00000161681HGNC:HGNC:15474PA3796519q13.33

Gene Categories:

TRANSPORTERION CHANNEL

GO terms in SHANK1


Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0005515protein binding
MFISSGO:0008022protein C-terminus binding
MFISSGO:0017124SH3 domain binding
MFIBAGO:0030159receptor signaling complex scaffold activity
MFIBAGO:0030160GKAP/Homer scaffold activity
MFISSGO:0030160GKAP/Homer scaffold activity
MFISSGO:0031877somatostatin receptor binding
MFIBAGO:0035255ionotropic glutamate receptor binding
MFISSGO:0035255ionotropic glutamate receptor binding
MFISSGO:0042802identical protein binding
MFISSGO:0044877protein-containing complex binding
MFISSGO:0071532ankyrin repeat binding
MFISSGO:0097110scaffold protein binding
BPNASGO:0007016cytoskeletal anchoring at plasma membrane
BPIBAGO:0007416synapse assembly
BPISSGO:0007616long-term memory
BPISSGO:0008306associative learning
BPIMPGO:0030534adult behavior
BPISSGO:0032232negative regulation of actin filament bundle assembly
BPIMPGO:0035176social behavior
BPISSGO:0035418protein localization to synapse
BPIEAGO:0042048olfactory behavior
BPIEAGO:0046959habituation
BPIBAGO:0048854brain morphogenesis
BPISSGO:0050885neuromuscular process controlling balance
BPIMPGO:0050894determination of affect
BPIBAGO:0051124synaptic growth at neuromuscular junction
BPIBAGO:0051705multi-organism behavior
BPIBAGO:0051968positive regulation of synaptic transmission, glutamatergic
BPIEAGO:0060013righting reflex
BPISSGO:0060074synapse maturation
BPIBAGO:0060291long-term synaptic potentiation
BPIBAGO:0060997dendritic spine morphogenesis
BPISSGO:0060997dendritic spine morphogenesis
BPIBAGO:0060999positive regulation of dendritic spine development
BPISSGO:0060999positive regulation of dendritic spine development
BPISSGO:0065003protein-containing complex assembly
BPIMPGO:0071625vocalization behavior
BPIBAGO:0097107postsynaptic density assembly
BPIBAGO:2000311regulation of AMPA receptor activity
BPISSGO:2000311regulation of AMPA receptor activity
BPIBAGO:2000463positive regulation of excitatory postsynaptic potential
BPISSGO:2000463positive regulation of excitatory postsynaptic potential
CCNASGO:0005622intracellular
CCTASGO:0005829cytosol
CCIBAGO:0005886plasma membrane
CCIBAGO:0005886plasma membrane
CCIDAGO:0005886plasma membrane
CCISSGO:0005886plasma membrane
CCIBAGO:0008328ionotropic glutamate receptor complex
CCISSGO:0008328ionotropic glutamate receptor complex
CCIBAGO:0014069postsynaptic density
CCISSGO:0014069postsynaptic density
CCIDAGO:0016020membrane
CCISSGO:0017146NMDA selective glutamate receptor complex
CCIEAGO:0030054cell junction
CCIBAGO:0030425dendrite
CCNASGO:0030425dendrite
CCIBAGO:0043005neuron projection
CCISSGO:0043005neuron projection
CCIBAGO:0043197dendritic spine
CCISSGO:0043197dendritic spine
CCIBAGO:0044309neuron spine
CCIBAGO:0045211postsynaptic membrane
CCISSGO:0045211postsynaptic membrane
CCISSGO:0045211postsynaptic membrane
CCISSGO:0060076excitatory synapse

Gene expression in normal tissue: SHANK1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in SHANK1


DatabasePathway IDPathway Des.
reactomeR-HSA-112316Neuronal System
reactomeR-HSA-112316Neuronal System
reactomeR-HSA-6794361Neurexins and neuroligins
reactomeR-HSA-6794361Neurexins and neuroligins
reactomeR-HSA-6794362Protein-protein interactions at synapses
reactomeR-HSA-6794362Protein-protein interactions at synapses
kegghsa04724Glutamatergic synapse - Homo sapiens (human)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD536PLX-47201

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SHANK1

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