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SHANK1 (SH3 and multiple ankyrin repeat domains 1)

Identity

Alias_symbol (synonym)SSTRIP
SPANK-1
synamon
Other alias
HGNC (Hugo) SHANK1
LocusID (NCBI) 50944
Atlas_Id 73217
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 50659257 and ends at 50716938 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SHANK1 (19q13.33) / MTHFD1L (6q25.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SHANK1   15474
Cards
Entrez_Gene (NCBI)SHANK1  50944  SH3 and multiple ankyrin repeat domains 1
AliasesSPANK-1; SSTRIP; synamon
GeneCards (Weizmann)SHANK1
Ensembl hg19 (Hinxton)ENSG00000161681 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000161681 [Gene_View]  chr19:50659257-50716938 [Contig_View]  SHANK1 [Vega]
ICGC DataPortalENSG00000161681
TCGA cBioPortalSHANK1
AceView (NCBI)SHANK1
Genatlas (Paris)SHANK1
WikiGenes50944
SOURCE (Princeton)SHANK1
Genetics Home Reference (NIH)SHANK1
Genomic and cartography
GoldenPath hg38 (UCSC)SHANK1  -     chr19:50659257-50716938 -  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SHANK1  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblSHANK1 - 19q13.33 [CytoView hg19]  SHANK1 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBISHANK1 [Mapview hg19]  SHANK1 [Mapview hg38]
OMIM604999   
Gene and transcription
Genbank (Entrez)AF163302 AF226728 AY461451 BU633092 EU872208
RefSeq transcript (Entrez)NM_016148
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SHANK1
Cluster EST : UnigeneHs.715488 [ NCBI ]
CGAP (NCI)Hs.715488
Alternative Splicing GalleryENSG00000161681
Gene ExpressionSHANK1 [ NCBI-GEO ]   SHANK1 [ EBI - ARRAY_EXPRESS ]   SHANK1 [ SEEK ]   SHANK1 [ MEM ]
Gene Expression Viewer (FireBrowse)SHANK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50944
GTEX Portal (Tissue expression)SHANK1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y566   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y566  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y566
Splice isoforms : SwissVarQ9Y566
PhosPhoSitePlusQ9Y566
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    PDZ (PS50106)    SAM_DOMAIN (PS50105)    SH3 (PS50002)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    FERM_f0    PDZ    SAM    SAM/pointed    SH3_2    SH3_domain   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    FERM_f0 (PF16511)    PDZ (PF00595)    SAM_1 (PF00536)    SH3_2 (PF07653)   
Domain families : Pfam (NCBI)pfam12796    pfam16511    pfam00595    pfam00536    pfam07653   
Domain families : Smart (EMBL)ANK (SM00248)  PDZ (SM00228)  SAM (SM00454)  SH3 (SM00326)  
Conserved Domain (NCBI)SHANK1
DMDM Disease mutations50944
Blocks (Seattle)SHANK1
SuperfamilyQ9Y566
Human Protein AtlasENSG00000161681
Peptide AtlasQ9Y566
HPRD05413
IPIIPI00007695   IPI00220164   IPI00220165   IPI00794166   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y566
IntAct (EBI)Q9Y566
FunCoupENSG00000161681
BioGRIDSHANK1
STRING (EMBL)SHANK1
ZODIACSHANK1
Ontologies - Pathways
QuickGOQ9Y566
Ontology : AmiGOprotein binding  intracellular  cytosol  plasma membrane  plasma membrane  protein complex assembly  cytoskeletal anchoring at plasma membrane  long-term memory  protein C-terminus binding  associative learning  ionotropic glutamate receptor complex  postsynaptic density  membrane  SH3 domain binding  NMDA selective glutamate receptor complex  cell junction  GKAP/Homer scaffold activity  dendrite  adult behavior  somatostatin receptor binding  negative regulation of actin filament bundle assembly  protein complex binding  social behavior  ionotropic glutamate receptor binding  protein localization to synapse  olfactory behavior  identical protein binding  neuron projection  dendritic spine  postsynaptic membrane  postsynaptic membrane  habituation  neuromuscular process controlling balance  determination of affect  righting reflex  synapse maturation  excitatory synapse  dendritic spine morphogenesis  positive regulation of dendritic spine development  ankyrin repeat binding  vocalization behavior  scaffold protein binding  regulation of AMPA receptor activity  positive regulation of excitatory postsynaptic potential  
Ontology : EGO-EBIprotein binding  intracellular  cytosol  plasma membrane  plasma membrane  protein complex assembly  cytoskeletal anchoring at plasma membrane  long-term memory  protein C-terminus binding  associative learning  ionotropic glutamate receptor complex  postsynaptic density  membrane  SH3 domain binding  NMDA selective glutamate receptor complex  cell junction  GKAP/Homer scaffold activity  dendrite  adult behavior  somatostatin receptor binding  negative regulation of actin filament bundle assembly  protein complex binding  social behavior  ionotropic glutamate receptor binding  protein localization to synapse  olfactory behavior  identical protein binding  neuron projection  dendritic spine  postsynaptic membrane  postsynaptic membrane  habituation  neuromuscular process controlling balance  determination of affect  righting reflex  synapse maturation  excitatory synapse  dendritic spine morphogenesis  positive regulation of dendritic spine development  ankyrin repeat binding  vocalization behavior  scaffold protein binding  regulation of AMPA receptor activity  positive regulation of excitatory postsynaptic potential  
Pathways : KEGGGlutamatergic synapse   
NDEx NetworkSHANK1
Atlas of Cancer Signalling NetworkSHANK1
Wikipedia pathwaysSHANK1
Orthology - Evolution
OrthoDB50944
GeneTree (enSembl)ENSG00000161681
Phylogenetic Trees/Animal Genes : TreeFamSHANK1
HOVERGENQ9Y566
HOGENOMQ9Y566
Homologs : HomoloGeneSHANK1
Homology/Alignments : Family Browser (UCSC)SHANK1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHANK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHANK1
dbVarSHANK1
ClinVarSHANK1
1000_GenomesSHANK1 
Exome Variant ServerSHANK1
ExAC (Exome Aggregation Consortium)SHANK1 (select the gene name)
Genetic variants : HAPMAP50944
Genomic Variants (DGV)SHANK1 [DGVbeta]
DECIPHERSHANK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSHANK1 
Mutations
ICGC Data PortalSHANK1 
TCGA Data PortalSHANK1 
Broad Tumor PortalSHANK1
OASIS PortalSHANK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSHANK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSHANK1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SHANK1
DgiDB (Drug Gene Interaction Database)SHANK1
DoCM (Curated mutations)SHANK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHANK1 (select a term)
intoGenSHANK1
Cancer3DSHANK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604999   
Orphanet
MedgenSHANK1
Genetic Testing Registry SHANK1
NextProtQ9Y566 [Medical]
TSGene50944
GENETestsSHANK1
Target ValidationSHANK1
Huge Navigator SHANK1 [HugePedia]
snp3D : Map Gene to Disease50944
BioCentury BCIQSHANK1
ClinGenSHANK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD50944
Chemical/Pharm GKB GenePA37965
Clinical trialSHANK1
Miscellaneous
canSAR (ICR)SHANK1 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHANK1
EVEXSHANK1
GoPubMedSHANK1
iHOPSHANK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:40:40 CEST 2017

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