AutismKB 2.0

Annotation Details for SORBS1


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Basic Information Top
Gene Symbol:SORBS1 ( CAP,DKFZp451C066,DKFZp586P1422,FLAF2,FLJ12406,KIAA1296,R85FL,SH3D5,SH3P12,SORB1 )
Gene Full Name: sorbin and SH3 domain containing 1
Band: 10q24.1
Quick LinksEntrez ID:10580; OMIM: 605264; Uniprot ID:SRBS1_HUMAN; ENSEMBL ID: ENSG00000095637; HGNC ID: 14565
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001725ISS-stress fiber-
GO:0005634IDA-nucleus11371513
GO:0005813IDA-centrosome-
GO:0005829ISS-cytosol9447983
GO:0005829TAS-cytosol-
GO:0005886IDA-plasma membrane-
GO:0005899IDAcolocalizes_withinsulin receptor complex11374898
GO:0005913ISS-cell-cell adherens junction-
GO:0005915TAS-zonula adherens10085297
GO:0005924ISS-cell-substrate adherens junction-
GO:0005925IDA-focal adhesion-
GO:0016363IEA-nuclear matrix-
GO:0045121ISS-membrane raft-
GO ID Evidence Qualifier GO_term References
GO:0003779TAS-actin binding10085297
GO:0005070IC-SH3/SH2 adaptor activity11374898
GO:0005070ISS-SH3/SH2 adaptor activity9447983
GO:0005158IDA-insulin receptor binding11374898
GO:0005515IPI-protein binding11371513
GO:0008092TAS-cytoskeletal protein binding10085297
GO ID Evidence Qualifier GO_term References
GO:0006936TAS-muscle contraction-
GO:0007160TAS-cell-matrix adhesion10085297
GO:0008286ISS-insulin receptor signaling pathway-
GO:0009967IEA-positive regulation of signal transduction-
GO:0015758ISS-glucose transport-
GO:0032869ISS-cellular response to insulin stimulus11001060
GO:0043149ISS-stress fiber assembly-
GO:0045725ISS-positive regulation of glycogen biosynthetic process11001060
GO:0046326ISS-positive regulation of glucose import11001060
GO:0046889ISS-positive regulation of lipid biosynthetic process11001060
GO:0048041ISS-focal adhesion assembly-
GO:0090004ISS-positive regulation of establishment of protein localization to plasma membrane-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SORBS1ABL110654311374898 Affinity Capture-Western
SORBS1ABL111583111374898 Affinity Capture-Western
SORBS1CBL10731512504111 15128873 Affinity Capture-Western
SORBS1CBL11583112504111 15128873 Affinity Capture-Western
SORBS1PTK2B10848015128873 Affinity Capture-Western
SORBS1PTK2B11583115128873 Affinity Capture-Western
SORBS1INPPL110984812504111 Affinity Capture-Western; Two-hybrid
SORBS1INPPL111583112504111 Affinity Capture-Western; Two-hybrid
SORBS1INSM110985312079283 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SORBS1INSM111583112079283 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SORBS1INSR10985411374898 Affinity Capture-Western
SORBS1INSR11583111374898 Affinity Capture-Western
SORBS1EIF611583117353931 Affinity Capture-MS
SORBS1EIF610989817353931 Affinity Capture-MS
SORBS1MLLT411044710085297 Affinity Capture-Western; Reconstituted Complex
SORBS1MLLT411583110085297 Affinity Capture-Western; Reconstituted Complex
SORBS1VCL11325710085297 Affinity Capture-Western; Reconstituted Complex
SORBS1VCL11583110085297 Affinity Capture-Western; Reconstituted Complex
SORBS1MAP4K311406320936779 Two-hybrid
SORBS1MAP4K311583120936779 Two-hybrid
SORBS1FLOT111550611001060 11481476 15128873 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SORBS1FLOT111583111001060 11481476 15128873 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
Gene Symbol Interactant Interaction ID References Description
SORBS1FLOT119974815128873 CAP interacts with flotillin-1. This interaction was modeled on a demonstrated interaction between CAP and flotillin-1 both from an unspecified species.
Gene Symbol Interactant Interaction ID References Description
SORBS1INPPL10290012504111 -
SORBS1INPPL10558712504111 -
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:700014
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018