• Gene id: 50944

Gene Summary

• Gene Symbol: SHANK1   Gene   UCSC   Ensembl
• Aliases: SPANK-1, SSTRIP, synamon
• Gene name: SH3 and multiple ankyrin repeat domains 1
• Alternate names: SH3 and multiple ankyrin repeat domains protein 1, SSTR-interacting protein, somatostatin receptor-interacting protein,
• Gene location: 19q13.33 (50719801: 50659254)     Exons: 25     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 614336

Protein Summary

• Protein general information: Q9Y566  
  • Name: SH3 and multiple ankyrin repeat domains protein 1 (Shank1) (Somatostatin receptor interacting protein) (SSTR interacting protein) (SSTRIP)
  • Length: 2161  
  • Mass: 224959
  • Tissue specificity: Expressed in brain particularly in the amygdala, hippocampus, substantia nigra and thalamus. Isoform 2 seems to be expressed ubiquitously.
• Sequence:

  MTHSPATSEDEERHSASECPEGGSESDSSPDGPGRGPRGTRGQGSGAPGSLASVRGLQGRSMSVPDDAHFSMMVF
  RIGIPDLHQTKCLRFNPDATIWTAKQQVLCALSESLQDVLNYGLFQPATSGRDANFLEEERLLREYPQSFEKGVP
  YLEFRYKTRVYKQTNLDEKQLAKLHTKTGLKKFLEYVQLGTSDKVARLLDKGLDPNYHDSDSGETPLTLAAQTEG
  SVEVIRTLCLGGAHIDFRARDGMTALHKAACARHCLALTALLDLGGSPNYKDRRGLTPLFHTAMVGGDPRCCELL
  LFNRAQLGIADENGWQEIHQACQRGHSQHLEHLLFYGAEPGAQNASGNTALHICALYNKETCARILLYRGADKDV
  KNNNGQTPFQVAVIAGNFELGELIRNHREQDVVPFQESPKYAARRRGPPGTGLTVPPALLRANSDTSMALPDWMV
  FSAPGAASSGAPGPTSGSQGQSQPSAPTTKLSSGTLRSASSPRGARARSPSRGRHPEDAKRQPRGRPSSSGTPRE
  GPAGGTGGSGGPGGSLGSRGRRRKLYSAVPGRSFMAVKSYQAQAEGEISLSKGEKIKVLSIGEGGFWEGQVKGRV
  GWFPSDCLEEVANRSQESKQESRSDKAKRLFRHYTVGSYDSFDAPSLMDGIGPGSDYIIKEKTVLLQKKDSEGFG
  FVLRGAKAQTPIEEFTPTPAFPALQYLESVDEGGVAWRAGLRMGDFLIEVNGQNVVKVGHRQVVNMIRQGGNTLM
  VKVVMVTRHPDMDEAVHKKAPQQAKRLPPPTISLRSKSMTSELEEMEYEQQPAPVPSMEKKRTVYQMALNKLDEI
  LAAAQQTISASESPGPGGLASLGKHRPKGFFATESSFDPHHRAQPSYERPSFLPPGPGLMLRQKSIGAAEDDRPY
  LAPPAMKFSRSLSVPGSEDIPPPPTTSPPEPPYSTPPVPSSSGRLTPSPRGGPFNPGSGGPLPASSPASFDGPSP
  PDTRVGSREKSLYHSGPLPPAHHHPPHHHHHHAPPPQPHHHHAHPPHPPEMETGGSPDDPPPRLALGPQPSLRGW
  RGGGPSPTPGAPSPSHHGSAGGGGGSSQGPALRYFQLPPRAASAAMYVPARSGRGRKGPLVKQTKVEGEPQKGGG
  LPPAPSPTSPASPQPPPAVAAPSEKNSIPIPTIIIKAPSTSSSGRSSQGSSTEAEPPTQPEPTGGGGGGGSSPSP
  APAMSPVPPSPSPVPTPASPSGPATLDFTSQFGAALVGAARREGGWQNEARRRSTLFLSTDAGDEDGGDGGLGTG
  AAPGPRLRHSKSIDEGMFSAEPYLRLESAGSGAGYGGYGAGSRAYGGGGGSSAFTSFLPPRPLVHPLTGKALDPA
  SPLGLALAARERALKESSEGGGAPQPPPRPPSPRYEAPPPTPHHHSPHAHHEPVLRLWGASPPDPARRELGYRAG
  LGSQEKSLPASPPAARRSLLHRLPPTAPGVGPLLLQLGTEPPAPHPGVSKPWRSAAPEEPERLPLHVRFLENCQP
  RAPVTSGRGPPSEDGPGVPPPSPRRSVPPSPTSPRASEENGLPLLVLPPPAPSVDVEDGEFLFVEPLPPPLEFSN
  SFEKPESPLTPGPPHPLPDTPAPATPLPPVPPPAVAAAPPTLDSTASSLTSYDSEVATLTQGASAAPGDPHPPGP
  PAPAAPAPAAPQPGPDPPPGTDSGIEEVDSRSSSDHPLETISSASTLSSLSAEGGGSAGGGGGAGAGVASGPELL
  DTYVAYLDGQAFGGSSTPGPPYPPQLMTPSKLRGRALGASGGLRPGPSGGLRDPVTPTSPTVSVTGAGTDGLLAL
  RACSGPPTAGVAGGPVAVEPEVPPVPLPTASSLPRKLLPWEEGPGPPPPPLPGPLAQPQASALATVKASIISELS
  SKLQQFGGSSAAGGALPWARGGSGGGGDSHHGGASYVPERTSSLQRQRLSDDSQSSLLSKPVSSLFQNWPKPPLP
  PLPTGTGVSPTAAAAPGATSPSASSSSTSTRHLQGVEFEMRPPLLRRAPSPSLLPASEHKVSPAPRPSSLPILPS
  GPLYPGLFDIRGSPTGGAGGSADPFAPVFVPPHPGISGGLGGALSGASRSLSPTRLLSLPPDKPFGAKPLGFWTK
  FDVADWLEWLGLAEHRAQFLDHEIDGSHLPALTKEDYVDLGVTRVGHRMNIDRALKFFLER

• Structural information:
  • Protein Domains: (554..61-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (663..75-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (2098..216-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR001478  IPR041489   IPR036034  IPR001660  IPR013761  IPR036028  IPR001452  
  • Prosite: PS50297 PS50088 PS50106 PS50105 PS50002
  • PDB: 6CPI
  • PDBsum: 6CPI
  • DIP: 40834
  • STRING: ENSP00000293441
• Other Databases: GeneCards:  SHANK1  Malacards:  SHANK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000463	positive regulation of excitatory postsynaptic potential	IBA	biological process
GO:0060999	positive regulation of dendritic spine development	IBA	biological process
GO:0060291	long-term synaptic potentiation	IBA	biological process
GO:0051968	positive regulation of synaptic transmission, glutamatergic	IBA	biological process
GO:0051124	synaptic growth at neuromuscular junction	IBA	biological process
GO:0048854	brain morphogenesis	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0035255	ionotropic glutamate receptor binding	IBA	molecular function
GO:0030425	dendrite	IBA	cellular component
GO:0030159	signaling receptor complex adaptor activity	IBA	molecular function
GO:0008328	ionotropic glutamate receptor complex	IBA	colocalizes with
GO:2000311	regulation of AMPA receptor activity	IBA	biological process
GO:0097107	postsynaptic density assembly	IBA	biological process
GO:0060997	dendritic spine morphogenesis	IBA	biological process
GO:0045211	postsynaptic membrane	IBA	colocalizes with
GO:0044309	neuron spine	IBA	cellular component
GO:0043197	dendritic spine	IBA	cellular component
GO:0030160	synaptic receptor adaptor activity	IBA	molecular function
GO:0014069	postsynaptic density	IBA	cellular component
GO:0007416	synapse assembly	IBA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0071532	ankyrin repeat binding	IEA	molecular function
GO:0060999	positive regulation of dendritic spine development	IEA	biological process
GO:0035255	ionotropic glutamate receptor binding	IEA	molecular function
GO:0031877	somatostatin receptor binding	IEA	molecular function
GO:0030159	signaling receptor complex adaptor activity	IEA	molecular function
GO:0017146	NMDA selective glutamate receptor complex	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:2000463	positive regulation of excitatory postsynaptic potential	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0060013	righting reflex	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0035255	ionotropic glutamate receptor binding	IEA	molecular function
GO:0035176	social behavior	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0008328	ionotropic glutamate receptor complex	IEA	cellular component
GO:0007616	long-term memory	IEA	biological process
GO:0097110	scaffold protein binding	IEA	molecular function
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0060074	synapse maturation	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043197	dendritic spine	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0030160	synaptic receptor adaptor activity	IEA	molecular function
GO:2000311	regulation of AMPA receptor activity	IEA	biological process
GO:0099173	postsynapse organization	IEA	biological process
GO:0071625	vocalization behavior	IEA	biological process
GO:0060997	dendritic spine morphogenesis	IEA	biological process
GO:0060076	excitatory synapse	IEA	cellular component
GO:0046959	habituation	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0042048	olfactory behavior	IEA	biological process
GO:0035418	protein localization to synapse	IEA	biological process
GO:0032232	negative regulation of actin filament bundle assembly	IEA	biological process
GO:0030160	synaptic receptor adaptor activity	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0008306	associative learning	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0008022	protein C-terminus binding	ISS	molecular function
GO:0017124	SH3 domain binding	ISS	molecular function
GO:0031877	somatostatin receptor binding	ISS	molecular function
GO:0035255	ionotropic glutamate receptor binding	ISS	molecular function
GO:0035255	ionotropic glutamate receptor binding	ISS	molecular function
GO:0071532	ankyrin repeat binding	ISS	molecular function
GO:0030160	synaptic receptor adaptor activity	ISS	molecular function
GO:0030160	synaptic receptor adaptor activity	ISS	molecular function
GO:0044877	protein-containing complex binding	ISS	molecular function
GO:0042802	identical protein binding	ISS	molecular function
GO:0097110	scaffold protein binding	ISS	molecular function
GO:0007616	long-term memory	ISS	biological process
GO:0008328	ionotropic glutamate receptor complex	ISS	colocalizes with
GO:0017146	NMDA selective glutamate receptor complex	ISS	colocalizes with
GO:0035176	social behavior	IMP	biological process
GO:0043005	neuron projection	ISS	cellular component
GO:0050885	neuromuscular process controlling balance	ISS	biological process
GO:0050894	determination of affect	IMP	biological process
GO:0060999	positive regulation of dendritic spine development	ISS	biological process
GO:2000463	positive regulation of excitatory postsynaptic potential	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0065003	protein-containing complex assembly	ISS	biological process
GO:0008306	associative learning	ISS	biological process
GO:0030534	adult behavior	IMP	biological process
GO:0032232	negative regulation of actin filament bundle assembly	ISS	biological process
GO:0035418	protein localization to synapse	ISS	biological process
GO:0043197	dendritic spine	ISS	cellular component
GO:0043197	dendritic spine	ISS	cellular component
GO:0045211	postsynaptic membrane	ISS	cellular component
GO:0045211	postsynaptic membrane	ISS	colocalizes with
GO:0060074	synapse maturation	ISS	biological process
GO:0060076	excitatory synapse	ISS	cellular component
GO:0060997	dendritic spine morphogenesis	ISS	biological process
GO:0071625	vocalization behavior	IMP	biological process
GO:0014069	postsynaptic density	ISS	cellular component
GO:2000311	regulation of AMPA receptor activity	ISS	biological process
GO:0045202	synapse	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0030425	dendrite	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04724	Glutamatergic synapse

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq