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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameSH3 and multiple ankyrin repeat domains 1
OMIM IDMIM:604999
Ensembl IDEnsembl:ENSG00000161681
HGNC IDHGNC:HGNC:15474
PHARMGKB IDPA37965
Map Location19q13.33

Gene Categories:

TRANSPORTERION CHANNEL

GO terms in SHANK1


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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
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Gene expression in normal tissue: SHANK1

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 1

Gene-drug pathway distribution

ERK MAPK signaling1

Pathways in SHANK1


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD536 PLX-4720 1
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SHANK1

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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