ENSG00000161681


Homo sapiens

Features
Gene ID: ENSG00000161681
  
Biological name :SHANK1
  
Synonyms : Q9Y566 / SH3 and multiple ankyrin repeat domains 1 / SHANK1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.33
Gene start: 50661827
Gene end: 50719450
  
Corresponding Affymetrix probe sets: 220563_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000351984
Ensembl peptide - ENSP00000375690
Ensembl peptide - ENSP00000469719
Ensembl peptide - ENSP00000293441
Ensembl peptide - ENSP00000375689
NCBI entrez gene - 50944     See in Manteia.
OMIM - 604999
RefSeq - XM_011527014
RefSeq - NM_016148
RefSeq - XM_006723233
RefSeq - XM_011527013
RefSeq Peptide - NP_057232
swissprot - Q9Y566
swissprot - M0QYB5
swissprot - H9KV90
Ensembl - ENSG00000161681
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 shank1ENSDARG00000060539Danio rerio
 D3YZU1ENSMUSG00000038738Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SHANK3 / SH3 and multiple ankyrin repeat domains 3ENSG0000025132235
Q9UPX8 / SHANK2 / SH3 and multiple ankyrin repeat domains 2ENSG0000016210523


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR001478  PDZ domain
 IPR001660  Sterile alpha motif domain
 IPR002110  Ankyrin repeat
 IPR013761  Sterile alpha motif/pointed domain superfamily
 IPR020683  Ankyrin repeat-containing domain
 IPR032425  Talin, N-terminal F0 domain
 IPR035735  Shank1, SH3 domain
 IPR036028  SH3-like domain superfamily
 IPR036034  PDZ superfamily
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007016 cytoskeletal anchoring at plasma membrane NAS
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007616 long-term memory ISS
 biological_processGO:0008306 associative learning ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030534 adult behavior IMP
 biological_processGO:0032232 negative regulation of actin filament bundle assembly ISS
 biological_processGO:0035176 social behavior IMP
 biological_processGO:0035418 protein localization to synapse ISS
 biological_processGO:0042048 olfactory behavior IEA
 biological_processGO:0046959 habituation IEA
 biological_processGO:0050885 neuromuscular process controlling balance ISS
 biological_processGO:0050894 determination of affect IMP
 biological_processGO:0060013 righting reflex IEA
 biological_processGO:0060074 synapse maturation ISS
 biological_processGO:0060997 dendritic spine morphogenesis ISS
 biological_processGO:0060999 positive regulation of dendritic spine development ISS
 biological_processGO:0065003 protein-containing complex assembly ISS
 biological_processGO:0071625 vocalization behavior IMP
 biological_processGO:2000311 regulation of AMPA receptor activity ISS
 biological_processGO:2000463 positive regulation of excitatory postsynaptic potential ISS
 cellular_componentGO:0005622 intracellular NAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane ISS
 cellular_componentGO:0008328 ionotropic glutamate receptor complex ISS
 cellular_componentGO:0014069 postsynaptic density ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0017146 NMDA selective glutamate receptor complex ISS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030425 dendrite NAS
 cellular_componentGO:0043005 neuron projection ISS
 cellular_componentGO:0043197 dendritic spine ISS
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane ISS
 cellular_componentGO:0060076 excitatory synapse ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding ISS
 molecular_functionGO:0017124 SH3 domain binding ISS
 molecular_functionGO:0030159 receptor signaling complex scaffold activity IEA
 molecular_functionGO:0030160 GKAP/Homer scaffold activity ISS
 molecular_functionGO:0031877 somatostatin receptor binding ISS
 molecular_functionGO:0035255 ionotropic glutamate receptor binding ISS
 molecular_functionGO:0042802 identical protein binding ISS
 molecular_functionGO:0044877 protein-containing complex binding ISS
 molecular_functionGO:0071532 ankyrin repeat binding ISS
 molecular_functionGO:0097110 scaffold protein binding ISS


Pathways (from Reactome)
Pathway description
Neurexins and neuroligins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / complex / reaction
 ENSG00000152822 GRM1 / Q13255 / glutamate metabotropic receptor 1  / reaction / complex
 ENSG00000051128 HOMER3 / Q9NSC5 / homer scaffolding protein 3  / complex / reaction
 ENSG00000136279 DBNL / Q9UJU6 / drebrin like  / complex / reaction
 ENSG00000150672 DLG2 / Q15700 / discs large MAGUK scaffold protein 2  / complex / reaction
 ENSG00000116544 DLGAP3 / O95886 / DLG associated protein 3  / reaction / complex
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex / reaction
 ENSG00000168959 GRM5 / P41594 / glutamate metabotropic receptor 5  / reaction / complex
 ENSG00000152413 HOMER1 / Q86YM7 / homer scaffolding protein 1  / reaction / complex
 ENSG00000198010 DLGAP2 / Q9P1A6 / DLG associated protein 2  / complex / reaction
 ENSG00000080845 DLGAP4 / Q9Y2H0 / DLG associated protein 4  / reaction / complex
 ENSG00000170579 DLGAP1 / O14490 / DLG associated protein 1  / reaction / complex
 ENSG00000103942 HOMER2 / Q9NSB8 / homer scaffolding protein 2  / complex / reaction
 ENSG00000179526 Q9H0F6 / SHARPIN / SHANK associated RH domain interactor  / complex / reaction






 

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