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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SHANK1 Gene

protein-coding   GIFtS: 59
GCID: GC19M051165

SH3 And Multiple Ankyrin Repeat Domains 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
SH3 And Multiple Ankyrin Repeat Domains 11 2     SPANK-12
Somatostatin Receptor-Interacting Protein1 2 3     SH3 And Multiple Ankyrin Repeat Domains Protein 12
SSTRIP2 3     synamon2
SSTR-Interacting Protein2 3     Shank13

External Ids:    HGNC: 154741   Entrez Gene: 509442   Ensembl: ENSG000001616817   OMIM: 6049995   UniProtKB: Q9Y5663   

Export aliases for SHANK1 gene to outside databases

Previous GC identifers: GC19M051793 GC19M051526 GC19M055841 GC19M055856 GC19M055818 GC19M047499


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for SHANK1 Gene: 
SHANK1 (SH3 and multiple ankyrin repeat domains 1) is a protein-coding gene. Diseases associated with SHANK1 include autism spectrum disorder, and mental retardation, and among its related super-pathways are Circadian entrainment and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include SH3 domain binding and identical protein binding. An important paralog of this gene is SHANK3.

UniProtKB/Swiss-Prot: SHAN1_HUMAN, Q9Y566
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, respectively, and the actin-based cytoskeleton. Plays a role in the
structural and functional organization of the dendritic spine and synaptic junction

Gene Wiki entry for SHANK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SHANK1 gene promoter:
         Max1   Pax-5   Tal-1   AP-1   NRSF form 1   STAT5A   NRSF form 2   E47   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SHANK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SHANK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SHANK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

SHANK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SHANK1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M051165:  view genomic region     (about GC identifiers)

Start:
51,165,084 bp from pter      End:
51,222,707 bp from pter
Size:
57,624 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SHAN1_HUMAN, Q9Y566 (See protein sequence)
Recommended Name: SH3 and multiple ankyrin repeat domains protein 1  
Size: 2161 amino acids; 224959 Da
Subunit: May homomultimerize via its SAM domain (By similarity). Interacts with the C-terminus of SSTR2 via the
PDZ domain. Interacts with IGSF9, SHARPIN, SPTAN1, HOMER1 and DLGAP1/GKAP isoforms 1 and 2 (By similarity). Part
of a complex with DLG4/PSD-95 and DLGAP1/GKAP (By similarity). Interacts with BAIAP2
Subcellular location: Cytoplasm (By similarity). Cell junction, synapse, postsynaptic cell membrane, postsynaptic
density (By similarity). Cell junction, synapse (By similarity). Note=Postsynaptic density of neuronal cells (By
similarity)
Secondary accessions: A8MXP5 B7WNY6 Q9NYW9
Alternative splicing: 3 isoforms:  Q9Y566-1   Q9Y566-2   Q9Y566-3   

Explore the universe of human proteins at neXtProt for SHANK1: NX_Q9Y566

Explore proteomics data for SHANK1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y566

  • SHANK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SHANK1 Protein Expression
    REFSEQ proteins: NP_057232.2  
    ENSEMBL proteins: 
     ENSP00000375689   ENSP00000293441   ENSP00000375690   ENSP00000351984   ENSP00000469719  

    Human Recombinant Protein Products for SHANK1: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SHANK1 

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular NAS10551867
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane ISS--
    GO:0008328colocalizes with ionotropic glutamate receptor complex ISS--
    GO:0014069postsynaptic density ----

    SHANK1 for ontologies           About GeneDecksing



    SHANK1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for SHANK1 
    Cloud-Clone Corp. CLIAs for SHANK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing
    SAMD: Sterile alpha motif (SAM) domain containing

    5/8 InterPro protein domains (see all 8):
     IPR011511 SH3_2
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR001478 PDZ
     IPR021129 SAM_type1

    Graphical View of Domain Structure for InterPro Entry Q9Y566

    ProtoNet protein and cluster: Q9Y566

    5 Blocks protein domains:
    IPB001452 SH3 domain signature
    IPB001478 PDZ/DHR/GLGF domain
    IPB001660 Sterile alpha motif SAM
    IPB002110 Ankyrin repeat signature
    IPB011511 Variant SH3


    UniProtKB/Swiss-Prot: SHAN1_HUMAN, Q9Y566
    Similarity: Belongs to the SHANK family
    Similarity: Contains 6 ANK repeats
    Similarity: Contains 1 PDZ (DHR) domain
    Similarity: Contains 1 SAM (sterile alpha motif) domain
    Similarity: Contains 1 SH3 domain


    SHANK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SHAN1_HUMAN, Q9Y566
    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, respectively, and the actin-based cytoskeleton. Plays a role in the
    structural and functional organization of the dendritic spine and synaptic junction

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10551867
    GO:0008022protein C-terminus binding IEA--
    GO:0017124SH3 domain binding ISS--
    GO:0030159receptor signaling complex scaffold activity ----
    GO:0030160GKAP/Homer scaffold activity ISS--
         
    SHANK1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SHANK1:
     Decreased homologous recombina 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Shank1):
     behavior/neurological  nervous system  reproductive system 

    SHANK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Shank1tm1Shng for SHANK1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SHANK1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SHANK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SHANK1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SHANK1 

    miRNA
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    hsa-miR-4257
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHANK1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SHANK1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Circadian entrainment
    Glutamatergic synapse0.39
    2Cytoskeleton remodeling Neurofilaments
    Cytoplasmic microtubules0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SHANK1
        Cytoplasmic microtubules



    1         Kegg Pathway  (Kegg details for SHANK1):
        Glutamatergic synapse


    SHANK1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SHANK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/41 Interacting proteins for SHANK1 (Q9Y5662, 3 ENSP000002934414) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LPHN2O954902, 3, ENSP000003222704MINT-72956 I2D: score=3 STRING: ENSP00000322270
    DLGAP1O144902, 3, ENSP000003163774MINT-7894188 I2D: score=6 STRING: ENSP00000316377
    BAI2O602412, 3, ENSP000003627624MINT-72957 I2D: score=3 STRING: ENSP00000362762
    ARHGEF7Q141553, ENSP000003648934I2D: score=3 STRING: ENSP00000364893
    LPHN1O949103, ENSP000003406884I2D: score=3 STRING: ENSP00000340688
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly ISS--
    GO:0007016cytoskeletal anchoring at plasma membrane NAS10551867
    GO:0007616long-term memory ISS--
    GO:0008306associative learning ISS--
    GO:0032232negative regulation of actin filament bundle assembly IEA--

    SHANK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SHANK1 (SHAN1)

    Search CenterWatch for drugs/clinical trials and news about SHANK1 / SHAN1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SHANK1 gene: 
    NM_016148.2  

    Unigene Cluster for SHANK1:

    SH3 and multiple ankyrin repeat domains 1
    Hs.274255  [show with all ESTs]
    Unigene Representative Sequence: AF163302
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391813(uc002psw.1) ENST00000293441(uc002psx.1) ENST00000391814(uc010yce.1)
    ENST00000359082 ENST00000483981 ENST00000468654 ENST00000461154 ENST00000483128

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SHANK1:
    hsa-miR-4257
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SHANK1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SHANK1

    Additional mRNA sequence: 

    AF163302.1 AF226728.1 

    4 DOTS entries:

    DT.92419193  DT.121486651  DT.92419190  DT.91699571 

    24 AceView cDNA sequences:

    AI554563 BF969037 AF163302 CK299116 BM475356 BI196108 AF226728 BF970858 
    BX283115 BF771112 BV196293 BF770520 AY461451 NM_016148 BQ422598 BE258286 
    R88191 AW857250 AW900154 BG251239 CK000629 BF952105 BI195188 BE066122 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SHANK1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
    SP1:                                                                                                            
    SP2:                                                                                                            
    SP3:                                                  -                                                         
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for SHANK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SHANK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACATCGACC
    SHANK1 Expression
    About this image


    See SHANK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SHANK1

    SOURCE GeneReport for Unigene cluster: Hs.274255

    UniProtKB/Swiss-Prot: SHAN1_HUMAN, Q9Y566
    Tissue specificity: Expressed in brain particularly in the amygdala, hippocampus, substantia nigra and thalamus.
    Isoform 2 seems to be expressed ubiquitously

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SHANK1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SHANK1 gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Shank11 , 5 SH3/ankyrin domain gene 11, 5 86.08(n)1
    94.29(a)1
      7 (28.83 cM)5
    2439611  NM_001034115.11  NP_001029287.11 
     443102535 
    lizard
    (Anolis carolinensis)
    Reptilia SHANK16
    Uncharacterized protein
    61(a)
    1 ↔ 1
    6(79302998-79427671)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5689081 uncharacterized LOC568908 56.67(n)
    56.97(a)
      568908  XM_003198122.1  XP_003198170.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Prosap6
    Prosap
    17(a)
    1 → many
    2R(9947961-10028403)
    worm
    (Caenorhabditis elegans)
    Secernentea C33B4.33 ankyrin and proline rich domains 44(a)   II(11384828-11390687)   --


    ENSEMBL Gene Tree for SHANK1 (if available)
    TreeFam Gene Tree for SHANK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SHANK1 gene
    SHANK32  SHANK22  
    3 SIMAP similar genes for SHANK1 using alignment to 3 protein entries:     SHAN1_HUMAN (see all proteins):
    ARHGEF7    SHANK2    ARHGAP23

    SHANK1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1127 SNPs in SHANK1 are shown (see all 1127)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365414
    A colorectal cancer sample4--see VAR_0365412 A D mis40--------
    VAR_0365424
    A colorectal cancer sample4--see VAR_0365422 G R mis40--------
    VAR_0221234
    ----see VAR_0221232 V A mis40--------
    rs341541081,2
    C--51164997(+) CGCTT-/CACACAC 1 -- ds50013Minor allele frequency- CA:0.00CSA 8
    rs38332361,2
    C--51165008(+) CACAC-/ACACACT 1 -- ds50010--------
    rs713061181,2
    C--51166540(-) CTTCA-/CT/TC 
            
    TCTCT
    1 -- int11NA 2
    rs719640581,2
    C--51167179(+) TCTTT-/T/TC  
            
    CTCTC
    1 -- int10--------
    rs1810102991,2
    --51173774(+) TCCCTA/CCTCTG 1 -- int10--------
    rs1149975611,2
    F--51173885(+) CCCTCA/GTGTCC 1 -- int11Minor allele frequency- G:0.06WA 118
    rs743711151,2
    C--51173908(+) CCCCT-/GGCTAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for SHANK1 (51165084 - 51222707 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for SHANK1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718745CNV Deletion23290073
    esv2718747CNV Deletion23290073
    esv2718744CNV Deletion23290073
    esv2718746CNV Deletion23290073
    nsv912287CNV Loss21882294
    nsv912286CNV Loss21882294
    nsv828583CNV Loss20364138
    nsv912285CNV Loss21882294


    Human Gene Mutation Database (HGMD): SHANK1
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SHANK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604999    OMIM disorders: --

    4 diseases for SHANK1:    About MalaCards
    autism spectrum disorder    mental retardation    schizophrenia    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SHANK1:
    Autistic disorder

    SHANK1 for disorders           About GeneDecksing


    Export disorders for SHANK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SHANK1 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with SHANK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Somatostatin receptor interacting protein defines a novel family of multidomain proteins present in human and rodent brain. (PubMed id 10551867)1, 2, 3, 9 Zitzer H.... Kreienkamp H.-J. (1999)
    2. The insulin receptor substrate IRSp53 links postsynaptic shank1 to the small G-protein cdc42. (PubMed id 12504591)1, 2 Soltau M.... Kreienkamp H.-J. (2002)
    3. The Shank family of scaffold proteins. (PubMed id 10806096)1, 2 Sheng M. and Kim E. (2000)
    4. Shank1 mRNA: dendritic transport by kinesin and trans lational control by the 5'untranslated region. (PubMed id 19416473)1, 9 Falley K....Kreienkamp H.J. (2009)
    5. Identification of proteins interacting with the rat somatostatin receptor subtype 2. (PubMed id 11087996)1, 9 Kreienkamp H.J....Richter D. (2000)
    6. A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosi s. (PubMed id 21901269)1 Lennertz L....Mossner R. (2012)
    7. SHANK1 Deletions in Males with Autism Spectrum Disorde r. (PubMed id 22503632)1 Sato D....Scherer S.W. (2012)
    8. The SH3 domain of postsynaptic density 95 mediates inf lammatory pain through phosphatidylinositol-3-kinase recruitment. (PubMed id 20467438)1 Arbuckle M.I....Grant S.G. (2010)
    9. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)
    10. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 50944 HGNC: 15474 AceView: SHANK1 Ensembl:ENSG00000161681 euGenes: HUgn50944
    ECgene: SHANK1 Kegg: 50944 H-InvDB: SHANK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SHANK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SHANK1 gene:
    Search GeneIP for patents involving SHANK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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