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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SH3 and multiple ankyrin repeat domains 1 | MIM:604999 | Ensembl:ENSG00000161681 | HGNC:HGNC:15474 | PA37965 | 19q13.33 |
GO terms in SHANK1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0008022 | protein C-terminus binding |
| MF | ISS | GO:0017124 | SH3 domain binding |
| MF | IBA | GO:0030159 | receptor signaling complex scaffold activity |
| MF | IBA | GO:0030160 | GKAP/Homer scaffold activity |
| MF | ISS | GO:0030160 | GKAP/Homer scaffold activity |
| MF | ISS | GO:0031877 | somatostatin receptor binding |
| MF | IBA | GO:0035255 | ionotropic glutamate receptor binding |
| MF | ISS | GO:0035255 | ionotropic glutamate receptor binding |
| MF | ISS | GO:0042802 | identical protein binding |
| MF | ISS | GO:0044877 | protein-containing complex binding |
| MF | ISS | GO:0071532 | ankyrin repeat binding |
| MF | ISS | GO:0097110 | scaffold protein binding |
| BP | NAS | GO:0007016 | cytoskeletal anchoring at plasma membrane |
| BP | IBA | GO:0007416 | synapse assembly |
| BP | ISS | GO:0007616 | long-term memory |
| BP | ISS | GO:0008306 | associative learning |
| BP | IMP | GO:0030534 | adult behavior |
| BP | ISS | GO:0032232 | negative regulation of actin filament bundle assembly |
| BP | IMP | GO:0035176 | social behavior |
| BP | ISS | GO:0035418 | protein localization to synapse |
| BP | IEA | GO:0042048 | olfactory behavior |
| BP | IEA | GO:0046959 | habituation |
| BP | IBA | GO:0048854 | brain morphogenesis |
| BP | ISS | GO:0050885 | neuromuscular process controlling balance |
| BP | IMP | GO:0050894 | determination of affect |
| BP | IBA | GO:0051124 | synaptic growth at neuromuscular junction |
| BP | IBA | GO:0051705 | multi-organism behavior |
| BP | IBA | GO:0051968 | positive regulation of synaptic transmission, glutamatergic |
| BP | IEA | GO:0060013 | righting reflex |
| BP | ISS | GO:0060074 | synapse maturation |
| BP | IBA | GO:0060291 | long-term synaptic potentiation |
| BP | IBA | GO:0060997 | dendritic spine morphogenesis |
| BP | ISS | GO:0060997 | dendritic spine morphogenesis |
| BP | IBA | GO:0060999 | positive regulation of dendritic spine development |
| BP | ISS | GO:0060999 | positive regulation of dendritic spine development |
| BP | ISS | GO:0065003 | protein-containing complex assembly |
| BP | IMP | GO:0071625 | vocalization behavior |
| BP | IBA | GO:0097107 | postsynaptic density assembly |
| BP | IBA | GO:2000311 | regulation of AMPA receptor activity |
| BP | ISS | GO:2000311 | regulation of AMPA receptor activity |
| BP | IBA | GO:2000463 | positive regulation of excitatory postsynaptic potential |
| BP | ISS | GO:2000463 | positive regulation of excitatory postsynaptic potential |
| CC | NAS | GO:0005622 | intracellular |
| CC | TAS | GO:0005829 | cytosol |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0008328 | ionotropic glutamate receptor complex |
| CC | ISS | GO:0008328 | ionotropic glutamate receptor complex |
| CC | IBA | GO:0014069 | postsynaptic density |
| CC | ISS | GO:0014069 | postsynaptic density |
| CC | IDA | GO:0016020 | membrane |
| CC | ISS | GO:0017146 | NMDA selective glutamate receptor complex |
| CC | IEA | GO:0030054 | cell junction |
| CC | IBA | GO:0030425 | dendrite |
| CC | NAS | GO:0030425 | dendrite |
| CC | IBA | GO:0043005 | neuron projection |
| CC | ISS | GO:0043005 | neuron projection |
| CC | IBA | GO:0043197 | dendritic spine |
| CC | ISS | GO:0043197 | dendritic spine |
| CC | IBA | GO:0044309 | neuron spine |
| CC | IBA | GO:0045211 | postsynaptic membrane |
| CC | ISS | GO:0045211 | postsynaptic membrane |
| CC | ISS | GO:0045211 | postsynaptic membrane |
| CC | ISS | GO:0060076 | excitatory synapse |
Gene expression in normal tissue: SHANK1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SHANK1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-6794361 | Neurexins and neuroligins |
| reactome | R-HSA-6794361 | Neurexins and neuroligins |
| reactome | R-HSA-6794362 | Protein-protein interactions at synapses |
| reactome | R-HSA-6794362 | Protein-protein interactions at synapses |
| kegg | hsa04724 | Glutamatergic synapse - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SHANK1
CLASSFICATION
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