Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10580
Gene name Gene Name - the full gene name approved by the HGNC.	Sorbin and SH3 domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SORBS1
Synonyms (NCBI Gene) Gene synonyms aliases	CAP, FLAF2, R85FL, SH3D5, SH3P12, SORB1
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q24.1
Summary Summary of gene provided in NCBI Entrez 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. [pro

Show/Hide all(51)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044804	hsa-miR-320a	CLASH	23622248
MIRT755733	hsa-miR-503-5p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, Immunoprecipitaion (IP), Immunohistochemistry (IHC), Immunofluorescence, Flow cytometry	34746123
MIRT1379477	hsa-miR-129-5p	CLIP-seq
MIRT1379478	hsa-miR-3674	CLIP-seq
MIRT1379479	hsa-miR-802	CLIP-seq
MIRT1379480	hsa-miR-3185	CLIP-seq
MIRT1379481	hsa-miR-3609	CLIP-seq
MIRT1379482	hsa-miR-548ah	CLIP-seq
MIRT1379483	hsa-miR-548n	CLIP-seq
MIRT1379484	hsa-miR-548t	CLIP-seq
MIRT1379485	hsa-miR-610	CLIP-seq
MIRT1379486	hsa-miR-654-3p	CLIP-seq
MIRT1379487	hsa-miR-656	CLIP-seq
MIRT1379488	hsa-miR-1291	CLIP-seq
MIRT1379489	hsa-miR-1324	CLIP-seq
MIRT1379490	hsa-miR-2467-5p	CLIP-seq
MIRT1379491	hsa-miR-3173-5p	CLIP-seq
MIRT1379492	hsa-miR-3188	CLIP-seq
MIRT1379493	hsa-miR-3194-3p	CLIP-seq
MIRT1379494	hsa-miR-3975	CLIP-seq
MIRT1379495	hsa-miR-4255	CLIP-seq
MIRT1379496	hsa-miR-4316	CLIP-seq
MIRT1379497	hsa-miR-450b-3p	CLIP-seq
MIRT1379498	hsa-miR-4642	CLIP-seq
MIRT1379499	hsa-miR-4662a-3p	CLIP-seq
MIRT1379500	hsa-miR-4712-3p	CLIP-seq
MIRT1379501	hsa-miR-4720-5p	CLIP-seq
MIRT1379502	hsa-miR-4753-5p	CLIP-seq
MIRT1379503	hsa-miR-4799-3p	CLIP-seq
MIRT1379504	hsa-miR-485-5p	CLIP-seq
MIRT1379505	hsa-miR-570	CLIP-seq
MIRT1379506	hsa-miR-769-3p	CLIP-seq
MIRT2113309	hsa-miR-4291	CLIP-seq
MIRT2113310	hsa-miR-4666-3p	CLIP-seq
MIRT2336411	hsa-miR-1200	CLIP-seq
MIRT2336411	hsa-miR-1200	CLIP-seq
MIRT2442687	hsa-miR-146a	CLIP-seq
MIRT2442688	hsa-miR-146b-5p	CLIP-seq
MIRT2442689	hsa-miR-3074-5p	CLIP-seq
MIRT2442690	hsa-miR-3124-3p	CLIP-seq
MIRT2442691	hsa-miR-34a	CLIP-seq
MIRT2442692	hsa-miR-34c-5p	CLIP-seq
MIRT2442693	hsa-miR-3677-5p	CLIP-seq
MIRT2442694	hsa-miR-4251	CLIP-seq
MIRT2442695	hsa-miR-4324	CLIP-seq
MIRT2442696	hsa-miR-4460	CLIP-seq
MIRT2442697	hsa-miR-449a	CLIP-seq
MIRT2442698	hsa-miR-449b	CLIP-seq
MIRT2442699	hsa-miR-4727-3p	CLIP-seq
MIRT2442700	hsa-miR-544b	CLIP-seq
MIRT2442701	hsa-miR-589	CLIP-seq

Show/Hide all(29)

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
GO:0005634	Component	Nucleus	IDA	11371513
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	ISS	9447983
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005912	Component	Adherens junction	ISS
GO:0005915	Component	Zonula adherens	TAS	10085297
GO:0005925	Component	Focal adhesion	IDA
GO:0006936	Process	Muscle contraction	TAS
GO:0007160	Process	Cell-matrix adhesion	TAS	10085297
GO:0008092	Function	Cytoskeletal protein binding	TAS	10085297
GO:0008286	Process	Insulin receptor signaling pathway	ISS
GO:0016363	Component	Nuclear matrix	IEA
GO:0030055	Component	Cell-substrate junction	ISS
GO:0030159	Function	Signaling receptor complex adaptor activity	IDA	11374898
GO:0030159	Function	Signaling receptor complex adaptor activity	ISS	9447983
GO:0032869	Process	Cellular response to insulin stimulus	ISS	11001060
GO:0043149	Process	Stress fiber assembly	ISS
GO:0045121	Component	Membrane raft	ISS
GO:0045725	Process	Positive regulation of glycogen biosynthetic process	ISS	11001060
GO:0046326	Process	Positive regulation of glucose import	ISS	11001060
GO:0046628	Process	Positive regulation of insulin receptor signaling pathway	ISS
GO:0046889	Process	Positive regulation of lipid biosynthetic process	ISS	11001060
GO:0048041	Process	Focal adhesion assembly	ISS
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	ISS

MIM	HGNC	e!Ensembl
605264	14565	ENSG00000095637

Protein

UniProt ID

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
IFPRTYIELLPPAEKAQPKKLTPVQVLEYGEAIAKFNFNGDTQVEMSFRKGERITLLRQV
DENWYEGRIPGTSRQGIFPITYVDVIKRPLVKNPVDYMDLPFSSSPSRSATASPQFSSHS
KLITPAPSSLPHSRRALSPEMHAVTSEWISLTVGVPGRRSLALTPPLPPLPEASIYNTDH
LALSPRASPSLSLSLPHLSWSDRPTPRSVASPLALPSPHKTYSLAPTSQASLHMNGDGGV
HTPSSGIHQDSFLQLPLGSSDSVISQLSDAFSSQSKRQPWREESGQYERKAERGAGERGP
GGPKISKKSCLKPSDVVRCLSTEQRLSDLNTPEESRPGKPLGSAFPGSEAEQTERHRGGE
QAGRKAARRGGSQQPQAQQRRVTPDRSQTSQDLFSYQALYSYIPQNDDELELRDGDIVDV
MEKCDDGWFVGTSRRTKQFGTFPGNYVKPLYL

Sequence length

1292

Interactions

View interactions

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Hypertension	Hypertension	GWAS
Metabolic Syndrome	Metabolic Syndrome	GWAS
Sarcoidosis	Sarcoidosis	GWAS

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	35196185
Breast Neoplasms	Associate	31789129
Cardiovascular Diseases	Associate	24905834
Colorectal Neoplasms	Associate	32319594, 37164919
Dementia	Associate	36421848
Diabetes Mellitus	Associate	12849814, 30002559
Diabetes Mellitus Type 1	Associate	25476525
Diabetes Mellitus Type 2	Stimulate	24403596
Diabetes Mellitus Type 2	Associate	26962801
Diabetic Nephropathies	Associate	25476525
Endometriosis	Associate	34409913
Essential Hypertension	Associate	26962801
Graves Ophthalmopathy	Associate	34078122
Hypertension	Associate	26962801
Insulin Resistance	Associate	26962801
Mitral Valve Insufficiency	Associate	27250500
Neoplasm Metastasis	Associate	32319594
Neoplasms	Associate	26893365
Neoplasms	Inhibit	35196185, 36854874
Obesity	Associate	12690089, 12849814, 24905834, 26962801
Prostatic Neoplasms	Associate	34860853
Pulmonary Disease Chronic Obstructive	Associate	31937552
Spinocerebellar Ataxias	Associate	23892081
Urinary Bladder Neoplasms	Inhibit	36854874

SORBS1 (sorbin and SH3 domain containing 1)