Gene Gene information from NCBI Gene database.
Entrez ID 10580
Gene name Sorbin and SH3 domain containing 1
Gene symbol SORBS1
Synonyms (NCBI Gene)
CAPFLAF2R85FLSH3D5SH3P12SORB1
Chromosome 10
Chromosome location 10q24.1
Summary 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. [pro
miRNA miRNA information provided by mirtarbase database.
51
miRTarBase ID miRNA Experiments Reference
MIRT044804 hsa-miR-320a CLASH 23622248
MIRT755733 hsa-miR-503-5p Luciferase reporter assayWestern blottingMicroarrayqRT-PCRImmunoprecipitaion (IP)Immunohistochemistry (IHC)ImmunofluorescenceFlow cytometry 34746123
MIRT1379477 hsa-miR-129-5p CLIP-seq
MIRT1379478 hsa-miR-3674 CLIP-seq
MIRT1379479 hsa-miR-802 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber ISS
GO:0003779 Function Actin binding TAS 10085297
GO:0005158 Function Insulin receptor binding IDA 11374898
GO:0005515 Function Protein binding IPI 11371513, 11374898, 12504111, 16374509, 17500595, 19116150, 23892081, 31413325, 32296183
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605264 14565 ENSG00000095637
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BX66
Protein name Sorbin and SH3 domain-containing protein 1 (Ponsin) (SH3 domain protein 5) (SH3P12) (c-Cbl-associated protein) (CAP)
Protein 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). {ECO:0000250|UniProtKB:Q
PDB 2DL3 , 2ECZ , 2LJ0 , 2LJ1 , 2MOX , 2O2W , 2O31 , 2O9S , 2O9V , 4LN2 , 4LNP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02208 Sorb 370 411 Sorbin homologous domain Family
PF07653 SH3_2 797 850 Variant SH3 domain Domain
PF00018 SH3_1 873 920 SH3 domain Domain
PF14604 SH3_9 1238 1288 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in skeletal muscle (at protein level). Widely expressed with highest levels in heart and skeletal muscle. {ECO:0000269|PubMed:11374898, ECO:0000269|PubMed:17462669}.
Sequence
MSSECDGGSKAVMNGLAPGSNGQDKATADPLRARSISAVKIIPVKTVKNASGLVLPTDMD
LTKICTGKGAVTLRASSSYRETPSSSPASPQETRQHESKPGLEPEPSSADEWRLSSSADA
NGNAQPSSLAAKGYRSVHPNLPSDKSQDATSSSAAQPEVIVVPLYLVNTDRGQEGTARPP
TPLGPLGCVPTIPATASAASPLTFPTLDDFIPPHLQRWPHHSQPARASGSFAPISQTPPS
FSPPPPLVPPAPEDLRRVSEPDLTGAVSSTDSSPLLNEVSSSLIGTDSQAFPSVSKPSSA
YPSTTIVNPTIVLLQHNREQQKRLSSLSDPVSERRVGEQDSAPTQEKPTSPGKAIEKRAK
DDSRRVVKSTQDLSDVSMDEVGIPLRNTERSKDWYKTMFKQIHKLNRDTPEENPYFPTYK
FPELPEIQQTSEEDNPYTPTYQFPASTPSPKSEDDDSDLYSPRYSFSEDTKSPLSVPRSK
SEMSYIDGEKVVKRSATLPLPARSSSLKSSSERNDWEPPDKKVDTRKYRAEPKSIYEYQP
GKSSVLTNEKMSRDISPEEIDLKNEPWYKFFSELEFGKPPPKKIWDYTPGDCSILPREDR
KTNLDKDLSLCQTELEADLEKMETLNKAPSANVPQSSAISPTPEISSETPGYIYSSNFHA
VKRESDGAPGDLTSLENERQIYKSVLEGGDIPLQGLSGLKRPSSSASTKDSESPRHFIPA
DYLESTEEFIRRRHDDKEKLLADQRRLKREQEEADIAARRHTGVIPTHHQFITNERFGDL
LNIDDTAKRKSGSEMRPARAKFDFKAQTLKELPLQKGDIVYIYKQIDQNWYEGEHHGRVG
IFPRTYIELL
PPAEKAQPKKLTPVQVLEYGEAIAKFNFNGDTQVEMSFRKGERITLLRQV
DENWYEGRIPGTSRQGIFPI
TYVDVIKRPLVKNPVDYMDLPFSSSPSRSATASPQFSSHS
KLITPAPSSLPHSRRALSPEMHAVTSEWISLTVGVPGRRSLALTPPLPPLPEASIYNTDH
LALSPRASPSLSLSLPHLSWSDRPTPRSVASPLALPSPHKTYSLAPTSQASLHMNGDGGV
HTPSSGIHQDSFLQLPLGSSDSVISQLSDAFSSQSKRQPWREESGQYERKAERGAGERGP
GGPKISKKSCLKPSDVVRCLSTEQRLSDLNTPEESRPGKPLGSAFPGSEAEQTERHRGGE
QAGRKAARRGGSQQPQAQQRRVTPDRSQTSQDLFSYQALYSYIPQNDDELELRDGDIVDV
MEKCDDGWFVGTSRRTKQFGTFPGNYVK
PLYL
Sequence length 1292
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 29456727
★☆☆☆☆
Found in Text Mining only
Allergic sensitization Allergic Sensitization BEFREE 28477791
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 2624428
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 22913580
★☆☆☆☆
Found in Text Mining only
beta Thalassemia beta Thalassemia BEFREE 1643026
★☆☆☆☆
Found in Text Mining only
Beta thalassemia intermedia beta Thalassemia BEFREE 26418075
★☆☆☆☆
Found in Text Mining only
beta^+^ Thalassemia beta Thalassemia BEFREE 1643026
★☆☆☆☆
Found in Text Mining only
Brain Infarction Brain Infarction BEFREE 18394047
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19289584, 19369627, 19864236, 24698965, 25367072, 25818873, 26473483, 26754674, 27180259, 27455837, 27791200, 28764718, 30953146, 31076089, 31732618
View all (1 more)
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31789129 Associate
★☆☆☆☆
Found in Text Mining only