Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	50944
Gene name	SH3 and multiple ankyrin repeat domains 1
Gene symbol	SHANK1
Synonyms (NCBI Gene)	SPANK-1SSTRIPsynamon
Chromosome	19
Chromosome location	19q13.33
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 a

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019080	hsa-miR-335-5p	Microarray	18185580
MIRT051440	hsa-let-7e-5p	CLASH	23622248

Show/Hide all (87)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001664	Function	G protein-coupled receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	10551867, 11583995, 30126976, 33436498, 34835087
GO:0005515	Function	Protein binding	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007616	Process	Long-term memory	IEA
GO:0007616	Process	Long-term memory	ISS
GO:0008306	Process	Associative learning	IBA
GO:0008306	Process	Associative learning	IEA
GO:0008306	Process	Associative learning	ISS
GO:0014069	Component	Postsynaptic density	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IDA	10551867
GO:0017124	Function	SH3 domain binding	IEA
GO:0017124	Function	SH3 domain binding	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030159	Function	Signaling receptor complex adaptor activity	IEA
GO:0030160	Function	Synaptic receptor adaptor activity	IBA
GO:0030160	Function	Synaptic receptor adaptor activity	IEA
GO:0030160	Function	Synaptic receptor adaptor activity	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	NAS	10551867
GO:0030534	Process	Adult behavior	IEA
GO:0030534	Process	Adult behavior	IMP	22503632
GO:0031877	Function	Somatostatin receptor binding	IEA
GO:0031877	Function	Somatostatin receptor binding	ISS
GO:0032232	Process	Negative regulation of actin filament bundle assembly	IEA
GO:0032232	Process	Negative regulation of actin filament bundle assembly	ISS
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	IMP	22503632
GO:0035255	Function	Ionotropic glutamate receptor binding	IBA
GO:0035255	Function	Ionotropic glutamate receptor binding	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	ISS
GO:0035418	Process	Protein localization to synapse	IEA
GO:0035418	Process	Protein localization to synapse	ISS
GO:0042048	Process	Olfactory behavior	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0044877	Function	Protein-containing complex binding	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0046959	Process	Habituation	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050808	Process	Synapse organization	IBA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0050885	Process	Neuromuscular process controlling balance	ISS
GO:0050890	Process	Cognition	IEA
GO:0050894	Process	Determination of affect	IMP	22503632
GO:0060013	Process	Righting reflex	IEA
GO:0060074	Process	Synapse maturation	IEA
GO:0060074	Process	Synapse maturation	ISS
GO:0060076	Component	Excitatory synapse	IEA
GO:0060076	Component	Excitatory synapse	ISS
GO:0060997	Process	Dendritic spine morphogenesis	IEA
GO:0060997	Process	Dendritic spine morphogenesis	ISS
GO:0060999	Process	Positive regulation of dendritic spine development	IEA
GO:0060999	Process	Positive regulation of dendritic spine development	ISS
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0065003	Process	Protein-containing complex assembly	ISS
GO:0071532	Function	Ankyrin repeat binding	IEA
GO:0071532	Function	Ankyrin repeat binding	ISS
GO:0071625	Process	Vocalization behavior	IEA
GO:0071625	Process	Vocalization behavior	IMP	22503632
GO:0097110	Function	Scaffold protein binding	IEA
GO:0097110	Function	Scaffold protein binding	ISS
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098919	Function	Structural constituent of postsynaptic density	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098990	Process	AMPA selective glutamate receptor signaling pathway	IEA
GO:0098990	Process	AMPA selective glutamate receptor signaling pathway	ISS
GO:0099562	Process	Maintenance of postsynaptic density structure	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS

MIM	HGNC	e!Ensembl
604999	15474	ENSG00000161681

Q9Y566

Protein name

SH3 and multiple ankyrin repeat domains protein 1 (Shank1) (Somatostatin receptor-interacting protein) (SSTR-interacting protein) (SSTRIP)

Protein function

Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer,

PDB

6CPI , 6YWZ , 6YX0 , 6YX1 , 6YX2 , 7A00 , 8S1R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	184 → 277	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	318 → 409	Ankyrin repeats (3 copies)	Repeat
PF07653	SH3_2	559 → 611	Variant SH3 domain	Domain
PF17820	PDZ_6	701 → 754	PDZ domain	Domain
PF00536	SAM_1	2096 → 2159	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain particularly in the amygdala, hippocampus, substantia nigra and thalamus. Isoform 2 seems to be expressed ubiquitously.

Sequence

MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGR
SMSVPDDAHFSMMVFRIGIPDLHQTKCLRFNPDATIWTAKQQVLCALSESLQDVLNYGLF
QPATSGRDANFLEEERLLREYPQSFEKGVPYLEFRYKTRVYKQTNLDEKQLAKLHTKTGL
KKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEGSVEVIRTLCLGGAHI
DFRARDGMTALHKAACARHCLALTALLDLGGSPNYKDRRGLTPLFHTAMVGGDPRCCELL
LFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKE
TCARILLYRGADKDVKNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARR
RGPPGTGLTVPPALLRANSDTSMALPDWMVFSAPGAASSGAPGPTSGSQGQSQPSAPTTK
LSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPREGPAGGTGGSGGPGGS
LGSRGRRRKLYSAVPGRSFMAVKSYQAQAEGEISLSKGEKIKVLSIGEGGFWEGQVKGRV
GWFPSDCLEEVANRSQESKQESRSDKAKRLFRHYTVGSYDSFDAPSLMDGIGPGSDYIIK
EKTVLLQKKDSEGFGFVLRGAKAQTPIEEFTPTPAFPALQYLESVDEGGVAWRAGLRMGD
FLIEVNGQNVVKVGHRQVVNMIRQGGNTLMVKVVMVTRHPDMDEAVHKKAPQQAKRLPPP
TISLRSKSMTSELEEMEYEQQPAPVPSMEKKRTVYQMALNKLDEILAAAQQTISASESPG
PGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPGLMLRQKSIGAAEDDRPY
LAPPAMKFSRSLSVPGSEDIPPPPTTSPPEPPYSTPPVPSSSGRLTPSPRGGPFNPGSGG
PLPASSPASFDGPSPPDTRVGSREKSLYHSGPLPPAHHHPPHHHHHHAPPPQPHHHHAHP
PHPPEMETGGSPDDPPPRLALGPQPSLRGWRGGGPSPTPGAPSPSHHGSAGGGGGSSQGP
ALRYFQLPPRAASAAMYVPARSGRGRKGPLVKQTKVEGEPQKGGGLPPAPSPTSPASPQP
PPAVAAPSEKNSIPIPTIIIKAPSTSSSGRSSQGSSTEAEPPTQPEPTGGGGGGGSSPSP
APAMSPVPPSPSPVPTPASPSGPATLDFTSQFGAALVGAARREGGWQNEARRRSTLFLST
DAGDEDGGDGGLGTGAAPGPRLRHSKSIDEGMFSAEPYLRLESAGSGAGYGGYGAGSRAY
GGGGGSSAFTSFLPPRPLVHPLTGKALDPASPLGLALAARERALKESSEGGGAPQPPPRP
PSPRYEAPPPTPHHHSPHAHHEPVLRLWGASPPDPARRELGYRAGLGSQEKSLPASPPAA
RRSLLHRLPPTAPGVGPLLLQLGTEPPAPHPGVSKPWRSAAPEEPERLPLHVRFLENCQP
RAPVTSGRGPPSEDGPGVPPPSPRRSVPPSPTSPRASEENGLPLLVLPPPAPSVDVEDGE
FLFVEPLPPPLEFSNSFEKPESPLTPGPPHPLPDTPAPATPLPPVPPPAVAAAPPTLDST
ASSLTSYDSEVATLTQGASAAPGDPHPPGPPAPAAPAPAAPQPGPDPPPGTDSGIEEVDS
RSSSDHPLETISSASTLSSLSAEGGGSAGGGGGAGAGVASGPELLDTYVAYLDGQAFGGS
STPGPPYPPQLMTPSKLRGRALGASGGLRPGPSGGLRDPVTPTSPTVSVTGAGTDGLLAL
RACSGPPTAGVAGGPVAVEPEVPPVPLPTASSLPRKLLPWEEGPGPPPPPLPGPLAQPQA
SALATVKASIISELSSKLQQFGGSSAAGGALPWARGGSGGGGDSHHGGASYVPERTSSLQ
RQRLSDDSQSSLLSKPVSSLFQNWPKPPLPPLPTGTGVSPTAAAAPGATSPSASSSSTST
RHLQGVEFEMRPPLLRRAPSPSLLPASEHKVSPAPRPSSLPILPSGPLYPGLFDIRGSPT
GGAGGSADPFAPVFVPPHPGISGGLGGALSGASRSLSPTRLLSLPPDKPFGAKPLGFWTK
FDVADWLEWLGLAEHRAQFLDHEIDGSHLPALTKEDYVDLGVTRVGHRMNIDRALKFFLE
R

Sequence length

2161

Interactions

View interactions

	KEGG		Reactome
	Glutamatergic synapse		Neurexins and neuroligins

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Pathogenic; Likely pathogenic	rs138273094, rs2513940332	RCV002287506 RCV002287592
See cases	Likely pathogenic; Pathogenic	rs2123136215	RCV005255495
SHANK1-associated disorder	Likely pathogenic; Pathogenic	rs1210431144	RCV005622164
SHANK1-related autism	Likely pathogenic	rs770588422	RCV003233357
SHANK1-related disorder	Likely pathogenic	rs2513919782	RCV003914151
SHANK1-related Neurodevelopmental Disorder	Likely pathogenic; Pathogenic	rs2123136215	RCV005401953

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	rs866837836	RCV004557943
SHANK1-associated neurodevelopmental disorder	Uncertain significance	rs866837836	RCV003885350

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autism Spectrum Disorder	Associate	22503632, 28720872, 37012247
Autistic Disorder	Associate	22503632, 27824329
Developmental Disabilities	Associate	24372385
Epilepsy	Associate	24372385
Epilepsy Rolandic	Associate	24372385
Epilepsy rolandic with paroxysmal exercise induced dystonia and writer's cramp	Associate	24372385
Fragile X Syndrome	Associate	25692235
Glioblastoma	Associate	38019838
Heredodegenerative Disorders Nervous System	Associate	28720872

SHANK1 (SH3 and multiple ankyrin repeat domains 1)