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SORBS1 Gene

protein-coding   GIFtS: 65
GCID: GC10M097061

Sorbin And SH3 Domain Containing 1

(Previous name: SH3-domain protein 5 (ponsin))
(Previous symbol: SH3D5)
  See SORBS1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Sorbin And SH3 Domain Containing 11 2     R85FL2
SH3D51 2 3 5     SORB12
SH3P122 3 5     C-Cbl Associated Protein2
C-Cbl-Associated Protein1 3     Fas-Ligand Associated Factor 22
CAP2 3     ponsin2
SH3 Domain Protein 52 3     Sorbin And SH3 Domain-Containing Protein 12
KIAA12963 5     KIAA08943
SH3-Domain Protein 5 (Ponsin)1     Ponsin3
FLAF22     

External Ids:    HGNC: 145651   Entrez Gene: 105802   Ensembl: ENSG000000956377   OMIM: 6052645   UniProtKB: Q9BX663   
ORGUL members:         

Export aliases for SORBS1 gene to outside databases

Previous GC identifers: GC10M095964 GC10M096305 GC10M097202 GC10M096736 GC10M090698


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SORBS1 Gene:
This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations
in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in
multiple transcript variants. (provided by RefSeq, Mar 2014)

GeneCards Summary for SORBS1 Gene:
SORBS1 (sorbin and SH3 domain containing 1) is a protein-coding gene. Diseases associated with SORBS1 include insulin resistance. GO annotations related to this gene include SH3/SH2 adaptor activity and actin binding. An important paralog of this gene is SH3RF3.

UniProtKB/Swiss-Prot: SRBS1_HUMAN, Q9BX66
Function: Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for
insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By
similarity)

Gene Wiki entry for SORBS1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SORBS1 gene promoter:
         AREB6   Spz1   NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SORBS1 promoter sequence
   Search Chromatin IP Primers for SORBS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SORBS1


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

Entrez Gene cytogenetic band: 10q23.33   Ensembl cytogenetic band:  10q24.1   HGNC cytogenetic band: 10q23.33

SORBS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SORBS1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M097061:  view genomic region     (about GC identifiers)

Start:
97,071,528 bp from pter      End:
97,321,171 bp from pter
Size:
249,644 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SRBS1_HUMAN, Q9BX66 (See protein sequence)
Recommended Name: Sorbin and SH3 domain-containing protein 1  
Size: 1292 amino acids; 142513 Da
Subunit: Interacts (via third SH3 domain) with the Ten-1 ICD form of TENM1; the interaction induces the
translocation of SORBS1 to the nucleus. Interacts with INSM1 (By similarity). Interacts with the long isoform of
MLLT4/afadin and with VCL. MLLT4 and VCL bind to SORBS1 in a competitive manner and do not form a ternary
complex. Interacts with ABL1, CBL, CBLB and INPPL1/SHIP2 through the third SH3 domain. Interaction with ABL1
occurs only after insulin stimulation while this has no effect on the interaction with INPPL1. Interacts with the
insulin receptor but dissociates from it following insulin stimulation. Also interacts with SCA7, PTK2/FAK1 and
flotillin. Interacts (via SH3 domain 2) with PXN
Sequence caution: Sequence=AAB93496.1; Type=Frameshift; Positions=861, 867, 885; Sequence=BAA92534.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened;
Selected PDB 3D structures from and Proteopedia for SORBS1 (see all 8):
2DL3 (3D)        2ECZ (3D)        2LJ0 (3D)        2LJ1 (3D)        2O2W (3D)        2O31 (3D)    
Secondary accessions: A0AED4 A6NEK3 A6NID8 A6NJS4 A7MD40 D3DR42 O43857 Q5T923 Q5T924 Q5T927
Q5T928 Q5T929 Q5T930 Q5T931 Q5T932 Q7LBE5 Q8IVK0 Q8IVQ4 Q96KF3 Q96KF4 Q9BX64 Q9BX65 Q9P2Q0
Q9UFT2 Q9UHN7 Q9Y338
Alternative splicing: 12 isoforms:  Q9BX66-1   Q9BX66-2   Q9BX66-3   Q9BX66-4   Q9BX66-5   Q9BX66-6   Q9BX66-7   Q9BX66-8   
Q9BX66-9   Q9BX66-10   Q9BX66-11   Q9BX66-12   (No experimental confirmation available. Derived from mouse ortholog data. Contains a phosphoserine at position 1213)

Explore the universe of human proteins at neXtProt for SORBS1: NX_Q9BX66

Explore proteomics data for SORBS1 at MOPED

Post-translational modifications: 

  • O-glycosylated (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SORBS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (12 alternative transcripts): 
    NP_001030126.1  NP_001030127.1  NP_001030128.1  NP_001030129.1  NP_001277223.1  NP_001277224.1  NP_001277225.1  NP_001277226.1  
    NP_001277227.1  NP_006425.2  NP_056200.1  NP_079267.1  

    ENSEMBL proteins: 
     ENSP00000360271   ENSP00000360295   ENSP00000302556   ENSP00000475901   ENSP00000355136  
     ENSP00000277982   ENSP00000360291   ENSP00000360285   ENSP00000277984   ENSP00000360283  
     ENSP00000360272   ENSP00000473813   ENSP00000474932   ENSP00000360293   ENSP00000360292  
     ENSP00000377521   ENSP00000343998   ENSP00000277985  
    Reactome Protein details: Q9BX66

    SORBS1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for SORBS1
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SORBS1
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SORBS1

     
    Search eBioscience for Proteins for SORBS1 

    SORBS1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SORBS1
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SORBS1
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    Novus Biologicals SORBS1 Antibodies
    Abcam antibodies for SORBS1
    Cloud-Clone Corp. Antibodies for SORBS1
    ThermoFisher Antibody for SORBS1
    LSBio Antibodies in human, mouse, rat for SORBS1

    SORBS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SORBS1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SORBS1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SORBS1
    Cloud-Clone Corp. CLIAs for SORBS1
    Search eBioscience for ELISAs for SORBS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR011511 SH3_2
     IPR001452 SH3_domain
     IPR003127 Sorb
     IPR028506 CAP/ponsin

    Graphical View of Domain Structure for InterPro Entry Q9BX66

    ProtoNet protein and cluster: Q9BX66

    1 Blocks protein domain: IPB003127 Sorbin-like

    UniProtKB/Swiss-Prot: SRBS1_HUMAN, Q9BX66
    Similarity: Contains 3 SH3 domains
    Similarity: Contains 1 SoHo domain


    Find genes that share domains with SORBS1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SRBS1_HUMAN, Q9BX66
    Function: Plays a role in tyrosine phosphorylation of CBL by linking CBL to the insulin receptor. Required for
    insulin-stimulated glucose transport. Involved in formation of actin stress fibers and focal adhesions (By
    similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS10085297
    GO:0005070SH3/SH2 adaptor activity ISS9447983
    GO:0005158insulin receptor binding IDA11374898
    GO:0005515protein binding IPI11371513
    GO:0008092cytoskeletal protein binding TAS10085297
         
    Find genes that share ontologies with SORBS1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SORBS1:
     Synthetic lethal with imatinib 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sorbs1):
     adipose tissue  hematopoietic system  homeostasis/metabolism  immune system 

    Find genes that share phenotypes with SORBS1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Sorbs1tm1Krc for SORBS1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SORBS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SORBS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SORBS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SORBS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SORBS1:
    hsa-mir-320a (MIRT044804)

    Block miRNA regulation of human, mouse, rat SORBS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SORBS1 (see all 78):
    hsa-miR-579 hsa-miR-607 hsa-miR-300 hsa-miR-4272 hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-342-3p hsa-miR-3122
    SwitchGear 3'UTR luciferase reporter plasmidSORBS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SORBS1
    Predesigned siRNA for gene silencing in human, mouse, rat SORBS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SORBS1

    Clone
    Products:
         
    OriGene clones in human, mouse for SORBS1 (see all 39)
    OriGene ORF clones in mouse, rat for SORBS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): SORBS1 (NM_015385)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SORBS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SORBS1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SORBS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SORBS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SRBS1_HUMAN, Q9BX66: Cell junction, adherens junction. Cell membrane. Cytoplasm, cytoskeleton. Cell junction,
    focal adhesion. Nucleus (By similarity). Nucleus matrix (By similarity). Note=Colocalizes with the Ten-1 ICD form
    of TENM1 in the nucleus (By similarity). Colocalizes with actin stress fibers. Also detected at the plasma
    membrane and in neuronal intranuclear inclusions. Colocalized with PXN at focal adhesions during myogenic
    differentiation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    plasma membrane5
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber ISS--
    GO:0005634nucleus IDA11371513
    GO:0005737cytoplasm ----
    GO:0005813centrosome ----
    GO:0005829cytosol TAS--

    Find genes that share ontologies with SORBS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SORBS1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Muscle contraction0.61
    Smooth Muscle Contraction0.47
    2Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Germ Cell-Sertoli Cell Junction Dynamics0.38
    3Focal adhesion
    Integrin-mediated cell adhesion0.38
    4PAK Pathway
    Epithelial Adherens Junctions0.36
    5IL-9 Signaling Pathways
    Adipocytokines and Insulin Signaling0.34


    Find genes that share SuperPaths with SORBS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for SORBS1
        Adipocytokines & Insulin Signaling

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SORBS1
        Sertoli-Sertoli Cell Junction Dynamics
    Germ Cell-Sertoli Cell Junction Dynamics
    Epithelial Adherens Junctions

    3 BioSystems Pathways for SORBS1
        Integrin-mediated cell adhesion
    Insulin Signaling
    Insulin Pathway

    1 Reactome Pathway for SORBS1
        Smooth Muscle Contraction


    3 Kegg Pathways  (Kegg details for SORBS1):
        PPAR signaling pathway
    Adherens junction
    Insulin signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SORBS1: 
              Insulin Signaling Pathway in human mouse rat
              Adherens Junctions in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              PPAR Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SORBS1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    Selected Interacting proteins for SORBS1 (Q9BX661, 2, 3 ENSP000003602724) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN7O152651, 2EBI-433642,EBI-708350 MINT-8434461 MINT-8434443 MINT-8434517 MINT-8434259 MINT-8434409 MINT-8434496 MINT-8434424 MINT-8434535 MINT-8434572 MINT-8434379 MINT-8434554 MINT-8434711 MINT-8434598 MINT-8434479 MINT-8434351
    PAK2Q131771, 2, 3EBI-433642,EBI-1045887 MINT-2792264 MINT-2792874 I2D: score=2 
    DNM2P505702, 3MINT-6804344 MINT-6804446 MINT-6804464 I2D: score=1 
    ABL1P005191, 3EBI-433642,EBI-375543 I2D: score=3 
    INPPL1O153571, 3EBI-433642,EBI-1384248 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006936muscle contraction TAS--
    GO:0007015actin filament organization ----
    GO:0007160cell-matrix adhesion TAS10085297
    GO:0008286insulin receptor signaling pathway ISS--
    GO:0009967positive regulation of signal transduction ISS9447983

    Find genes that share ontologies with SORBS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SORBS1 (SRBS1)

    4 Novoseek inferred chemical compound relationships for SORBS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    11beta-hydroxysteroid 48.3 2 14742839 (1), 15220243 (1)
    tyrosine 26.1 3 19891780 (2), 10734046 (1)
    glucose 19.5 6 15047181 (3), 12849814 (1), 11532984 (1)
    lipid 2.35 5 17548467 (2), 11481476 (1)



    Find genes that share compounds with SORBS1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SORBS1 gene (12 alternative transcripts): 
    NM_001034954.1  NM_001034955.1  NM_001034956.1  NM_001034957.1  NM_001290294.1  NM_001290295.1  NM_001290296.1  NM_001290297.1  
    NM_001290298.1  NM_006434.2  NM_015385.3  NM_024991.2  

    Unigene Cluster for SORBS1:

    Sorbin and SH3 domain containing 1
    Hs.38621  [show with all ESTs]
    Unigene Representative Sequence: AM260536
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000371227(uc001kkw.3) ENST00000371249(uc001kkv.3) ENST00000306402(uc001kkr.3 uc001kks.3 uc001kku.3 uc010qoe.2)
    ENST00000607232 ENST00000361941 ENST00000277982 ENST00000371245(uc001kkk.3)
    ENST00000371241 ENST00000354106 ENST00000371239 ENST00000474353 ENST00000371228(uc021pwm.1)
    ENST00000472854 ENST00000465489 ENST00000486141 ENST00000492542 ENST00000482068
    ENST00000371247(uc001kkp.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat SORBS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SORBS1 (see all 78):
    hsa-miR-579 hsa-miR-607 hsa-miR-300 hsa-miR-4272 hsa-miR-3074-3p hsa-miR-138-2* hsa-miR-342-3p hsa-miR-3122
    SwitchGear 3'UTR luciferase reporter plasmidSORBS1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SORBS1
    Predesigned siRNA for gene silencing in human, mouse, rat SORBS1
    Clone
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    OriGene clones in human, mouse for SORBS1 (see all 39)
    OriGene ORF clones in mouse, rat for SORBS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 7): SORBS1 (NM_015385)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SORBS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SORBS1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SORBS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SORBS1
      QuantiTect SYBR Green Assays in human, mouse, rat SORBS1
      QuantiFast Probe-based Assays in human, mouse, rat SORBS1

    Additional mRNA sequence: 

    AB037717.1 AF136380.1 AF136381.1 AF330623.1 AF330624.1 AF356525.1 AF356526.1 AF356527.1 
    AJ489942.1 AK022468.1 AK294924.1 AK300407.1 AK304130.1 AK304753.1 AL117472.1 AL122082.1 
    AL832353.1 AL833125.1 AM260536.1 BC042612.1 BC152463.1 BX640814.1 BX648865.1 U70668.1 

    Selected DOTS entries (see all 36):

    DT.317571  DT.97845045  DT.100666865  DT.75169352  DT.75129181  DT.95306923  DT.100791994  DT.100791990 
    DT.40253974  DT.75191558  DT.91759624  DT.100791989  DT.100791997  DT.91759620  DT.121285256  DT.121285151 
    DT.100791999  DT.121285268  DT.424711  DT.87002072  DT.91750794  DT.95358091  DT.97833467  DT.100791998 

    Selected AceView cDNA sequences (see all 266):

    BX648865 CF457414 AA320050 CD172053 BE045611 AI459198 CF454638 AA884120 
    AI675352 CA390030 AA514481 AL599433 AA904920 AL117472 AA369404 AJ710850 
    AF143880 H99690 AI127602 AL603112 AI220492 AJ489942 T35144 AW008608 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SORBS1 (see all 21)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:                                                  -                       -                 -     -     -           -     -     -                           
    SP2:                    -           -                 -                       -                 -     -     -     -     -     -     -                           
    SP3:                                                                          -     -           -     -     -     -     -     -     -                           
    SP4:                                                  -           -           -     -           -     -                 -     -     -                           
    SP5:                                                              -           -                 -     -     -     -     -     -     -                           

    ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39 ^ 40a · 40b ^
    SP1:  -     -     -     -                                         -                       -                 -                                   -     -     -   
    SP2:  -     -     -     -                             -     -     -                       -                 -                                   -     -     -   
    SP3:              -     -                                   -     -                       -                 -                                   -     -     -   
    SP4:  -     -     -     -                             -     -     -                       -                                                     -     -     -   
    SP5:  -     -     -     -                                   -                             -                 -                                   -     -     -   

    ExUns: 41 ^ 42 ^ 43 ^ 44 ^ 45a · 45b · 45c · 45d · 45e · 45f
    SP1:        -                                                   
    SP2:  -     -                                                   
    SP3:  -     -                                                   
    SP4:  -     -                                                   
    SP5:  -     -                                                   


    ECgene alternative splicing isoforms for SORBS1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SORBS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTATGCAG
    SORBS1 Expression
    About this image


    SORBS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Heart (Cardiovascular System)
             Atrioventricular Node
    SORBS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SORBS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.38621

    UniProtKB/Swiss-Prot: SRBS1_HUMAN, Q9BX66
    Tissue specificity: Detected in skeletal muscle (at protein level). Widely expressed with highest levels in heart
    and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SORBS1: 
              Insulin Signaling Pathway in human mouse rat
              Adherens Junctions in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              PPAR Targets in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SORBS1

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for SORBS1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sorbs11 , 5 sorbin and SH3 domain containing 11, 5 87.64(n)1
    88.14(a)1
      19 (34.25 cM)5
    204111  NM_178362.11  NP_848139.11 
     402950495 
    chicken
    (Gallus gallus)
    Aves SORBS11 sorbin and SH3 domain containing 1 76.1(n)
    76.63(a)
      423749  XM_421625.4  XP_421625.4 
    lizard
    (Anolis carolinensis)
    Reptilia SORBS16
    sorbin and SH3 domain containing 1
    42(a)
    1 ↔ 1
    GL343297.1(1362072-1471635)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX715117.12   -- 80.25(n)    BX715117.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sorbs16
    sorbin and SH3 domain containing 1
    53(a)
    1 ↔ 1
    13(23347222-23446878) ENSDARG00000079230
    fruit fly
    (Drosophila melanogaster)
    Insecta CAP6
    CAP
    11(a)
    1 → many
    2R(6156528-6194529)


    ENSEMBL Gene Tree for SORBS1 (if available)
    TreeFam Gene Tree for SORBS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SORBS1 gene
    SH3RF32  SH3RF22  SORBS32  SH3RF12  SORBS22  SH3D192  
    6 SIMAP similar genes for SORBS1 using alignment to 5 protein entries:     SRBS1_HUMAN (see all proteins):
    KIAA0894    SH3GL2    SH3GL1    ARHGEF7    SORBS3    DKFZp686N08224

    Find genes that share paralogs with SORBS1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SORBS1 (see all 5176)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356614
    A breast cancer sample4--see VAR_0356612 T A mis40--------
    rs57871461,2
    C--90932955(+) aaaaa-/A/AA  
            
    GGGAG
    2 -- int11NA 2
    rs343807661,2
    C--97071039(+) CAGGG-/GAGACTG 7 -- ds50010--------
    rs13600051,2
    C,F,A,H--97071060(-) GTGTTG/AAGGCA 7 -- ds5001112Minor allele frequency- A:0.22NS NA EA PA EU CA WA CSA 7254
    rs1903560981,2
    --97071078(+) TTGGAA/GGAGAA 7 -- ds50010--------
    rs1817171721,2
    --97071103(+) ATTTTC/TGCCCA 7 -- ds50010--------
    rs1146973271,2
    C,F--97071110(+) CCCACC/TCATAC 7 -- ds50011Minor allele frequency- T:0.02WA 118
    rs760720801,2
    F--97071262(+) TGCATC/TACTTT 7 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1874266271,2
    C--97071285(+) AAATAC/TGAACA 7 -- ds50010--------
    rs38141471,2
    C,F,A,H--97071334(+) ATTAAG/TTCAGA 7 -- ds500121Minor allele frequency- T:0.45EA NS NA CSA WA 3536

    HapMap Linkage Disequilibrium report for SORBS1 (97071528 - 97321171 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SORBS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739718CNV Deletion23290073
    esv5409CNV Deletion18987735
    esv4805CNV Duplication18987735
    esv268720CNV Insertion20981092
    esv2494950CNV Insertion19546169
    esv272336CNV Insertion20981092
    esv9481CNV Loss19470904
    nsv512178CNV Loss21212237
    esv22688CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): SORBS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SORBS1
    DNA2.0 Custom Variant and Variant Library Synthesis for SORBS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605264    OMIM disorders: --

    1 disease for SORBS1:    
    About MalaCards
    insulin resistance


    Find genes that share disorders with SORBS1           About GenesLikeMe

    2 Novoseek inferred disease relationships for SORBS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    insulin resistance 28.4 4 11532984 (2), 18394047 (1)
    obesity 6.15 6 11532984 (3), 12849814 (1)

    Genetic Association Database (GAD): SORBS1
    Human Genome Epidemiology (HuGE) Navigator: SORBS1 (11 documents)

    Export disorders for SORBS1 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)
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    PubMed articles for SORBS1 gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with SORBS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes. (PubMed id 11532984)1, 2, 4, 9 Lin W.-H.... Chuang L.-M. (Hum. Mol. Genet. 2001)
    2. Paxillin and ponsin interact in nascent costameres of muscle cells. (PubMed id 17462669)1, 2, 9 Gehmlich K.... Furst D.O. (J. Mol. Biol. 2007)
    3. Ponsin/SH3P12: an l-afadin- and vinculin-binding protein localized at cell-cell and cell-matrix adherens junctions. (PubMed id 10085297)1, 3, 9 Mandai K....Takai Y. (J. Cell Biol. 1999)
    4. Frequency of the T228A polymorphism in the SORBS1 gene in children with premature pubarche and in adolescent girls with hyperandrogenism. (PubMed id 12849814)1, 4, 9 Witchel S.F....Kammerer C. (Fertil. Steril. 2003)
    5. Cloning, mapping, and characterization of the human sorbin and SH3 domain containing 1 (SORBS1) gene: a protein associated with c-Abl during insulin signaling in the hepatoma cell line Hep3B. (PubMed id 11374898)1, 2, 9 Lin W.-H....Chuang L.-M. (Genomics 2001)
    6. Polymorphism in the sorbin and SH3-domain-containing-1 (SORBS1) gene and the risk of brain infarction in the Japanese population: the Fukuoka Stroke Registry and the Hisayama study. (PubMed id 18394047)1, 4, 9 Hagiwara N.... . (Eur. J. Neurol. 2008)
    7. Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. (PubMed id 11371513)1, 2, 9 Lebre A.-S.... Brice A. (Hum. Mol. Genet. 2001)
    8. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Association of polymorphisms of SORBS1, GCK and WISP1 with hypertension in community-dwelling Japanese individuals. (PubMed id 19282865)1, 4 Yamada Y....Shimokata H. (Hypertens. Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 10580 HGNC: 14565 AceView: SORBS1 Ensembl:ENSG00000095637 euGenes: HUgn10580
    ECgene: SORBS1 Kegg: 10580 H-InvDB: SORBS1

    (According to HUGE)
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    HUGE: KIAA1296 KIAA0894

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SORBS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SORBS1 gene:
    Search GeneIP for patents involving SORBS1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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