Database for Annotation, Visualization and Integrated Discovery 2.1
National Institute of Allergy and Infectious Disease
The Database for Annotation, Visualization and Integrated Discovery
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DAVID Functional Annotation Table
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sorbin and SH3 domain containing 1(SORBS1) sorbin and SH3 domain containing 1(SORBS1) Related Genes Homo sapiens
CHROMOSOME 10,
CYTOBAND 10q23.3-q24.1,
ENSEMBL_GENE_ID ENSG00000095637,
ENTREZ_GENE_ID 10580,
GENERIF_SUMMARY regulates cytoskeletal organization and signal transduction--review, preliminary results indicate the depot-specific differential expression of sorbin and SH3 domain-containing-1(SORBS1) in relation to body mass index, SORBS1 polymorphism does not play a major role in premature pubarche, hyperandrogenism, and/or polycystic ovary syndrome in children and adolescent girls., A novel isoform was identified in a yeast two-hybrid screen for A-kinase anchoring proteins expressed in the heart., Soluble intracellular domain of teneurin-1 binds to the cell membrane enriched in CAP/ponsin, analysis of paxillin and ponsin interaction in nascent costameres of muscle cells, AA genotype of SORBS1 T228A polymorphism may play a role in lacunar infarction in the Japanese population., Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia., These results suggest that SORBS1 and GCK are susceptibility loci for hypertension in Japanese women and that WISP1 is such a locus in men., Mutation of Tyr326 altered the function of CAP during cell spreading., The novel ponsin isoform and its interaction with Nck1/2 provide exciting insight into the convergence of signalling pathways at the costameres, and its crucial role for skeletal muscle differentiation and re-generation., a novel signaling network containing FRS2, CAP and flotillin-1, Sequestration of the ponsin splice variant R85FL by the polyglutamine-expanded Atx7 in cell is mediated by the specific SH3C-PRR interaction, which is implicated in the pathogenesis of spinocerebellar ataxia 7., Our NMR and ITC data indicate that the SH3a and SH3b domains of CAP simultaneously bind to a long proline-rich region of vinculin with different binding specificities, data suggest that SORBS1 might be a gene involved in diabetic nephropathy.,
SP_COMMENT 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., PTM:O-glycosylated., similarity:Contains 1 SoHo domain., similarity:Contains 3 SH3 domains., subcellular location:Colocalizes with actin stress fibers. Also detected at the plasma membrane and in neuronal intranuclear inclusions., subunit: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/p125FAK and flotillin., tissue specificity:Widely expressed with highest levels in heart and skeletal muscle.,