• Gene id: 10580

Gene Summary

• Gene Symbol: SORBS1   Gene   UCSC   Ensembl
• Aliases: CAP, FLAF2, R85FL, SH3D5, SH3P12, SORB1
• Gene name: sorbin and SH3 domain containing 1
• Alternate names: sorbin and SH3 domain-containing protein 1, Fas-ligand associated factor 2, SH3 domain protein 5, c-Cbl associated protein, ponsin,
• Gene location: 10q24.1 (95561438: 95311772)     Exons: 36     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 605264

Protein Summary

• Protein general information: Q9BX66  
  • Name: Sorbin and SH3 domain containing protein 1 (Ponsin) (SH3 domain protein 5) (SH3P12) (c Cbl associated protein) (CAP)
  • Length: 1292  
  • Mass: 142513
  • Tissue specificity: Detected in skeletal muscle (at protein level). Widely expressed with highest levels in heart and skeletal muscle. {ECO
• Sequence:

  MSSECDGGSKAVMNGLAPGSNGQDKATADPLRARSISAVKIIPVKTVKNASGLVLPTDMDLTKICTGKGAVTLRA
  SSSYRETPSSSPASPQETRQHESKPGLEPEPSSADEWRLSSSADANGNAQPSSLAAKGYRSVHPNLPSDKSQDAT
  SSSAAQPEVIVVPLYLVNTDRGQEGTARPPTPLGPLGCVPTIPATASAASPLTFPTLDDFIPPHLQRWPHHSQPA
  RASGSFAPISQTPPSFSPPPPLVPPAPEDLRRVSEPDLTGAVSSTDSSPLLNEVSSSLIGTDSQAFPSVSKPSSA
  YPSTTIVNPTIVLLQHNREQQKRLSSLSDPVSERRVGEQDSAPTQEKPTSPGKAIEKRAKDDSRRVVKSTQDLSD
  VSMDEVGIPLRNTERSKDWYKTMFKQIHKLNRDTPEENPYFPTYKFPELPEIQQTSEEDNPYTPTYQFPASTPSP
  KSEDDDSDLYSPRYSFSEDTKSPLSVPRSKSEMSYIDGEKVVKRSATLPLPARSSSLKSSSERNDWEPPDKKVDT
  RKYRAEPKSIYEYQPGKSSVLTNEKMSRDISPEEIDLKNEPWYKFFSELEFGKPPPKKIWDYTPGDCSILPREDR
  KTNLDKDLSLCQTELEADLEKMETLNKAPSANVPQSSAISPTPEISSETPGYIYSSNFHAVKRESDGAPGDLTSL
  ENERQIYKSVLEGGDIPLQGLSGLKRPSSSASTKDSESPRHFIPADYLESTEEFIRRRHDDKEKLLADQRRLKRE
  QEEADIAARRHTGVIPTHHQFITNERFGDLLNIDDTAKRKSGSEMRPARAKFDFKAQTLKELPLQKGDIVYIYKQ
  IDQNWYEGEHHGRVGIFPRTYIELLPPAEKAQPKKLTPVQVLEYGEAIAKFNFNGDTQVEMSFRKGERITLLRQV
  DENWYEGRIPGTSRQGIFPITYVDVIKRPLVKNPVDYMDLPFSSSPSRSATASPQFSSHSKLITPAPSSLPHSRR
  ALSPEMHAVTSEWISLTVGVPGRRSLALTPPLPPLPEASIYNTDHLALSPRASPSLSLSLPHLSWSDRPTPRSVA
  SPLALPSPHKTYSLAPTSQASLHMNGDGGVHTPSSGIHQDSFLQLPLGSSDSVISQLSDAFSSQSKRQPWREESG
  QYERKAERGAGERGPGGPKISKKSCLKPSDVVRCLSTEQRLSDLNTPEESRPGKPLGSAFPGSEAEQTERHRGGE
  QAGRKAARRGGSQQPQAQQRRVTPDRSQTSQDLFSYQALYSYIPQNDDELELRDGDIVDVMEKCDDGWFVGTSRR
  TKQFGTFPGNYVKPLYL

• Structural information:
  • Protein Domains: (366..46-)
    (/note="SoHo-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00195-)
    (793..85-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (867..92-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (-)
  • Interpro: IPR036028  IPR001452  IPR003127  IPR035606  IPR035610   IPR035611  
  • Prosite: PS50002 PS50831
  • CDD: cd11919 cd11922 cd11916
  • PDB: 2DL3 2ECZ 2LJ0 2LJ1 2MOX 2O2W 2O31 2O9S 2O9V 4LN2 4LNP
  • PDBsum: 2DL3 2ECZ 2LJ0 2LJ1 2MOX 2O2W 2O31 2O9S 2O9V 4LN2 4LNP
  • STRING: ENSP00000360293
• Other Databases: GeneCards:  SORBS1  Malacards:  SORBS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030054	cell junction	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003779	actin binding	TAS	molecular function
GO:0008092	cytoskeletal protein binding	TAS	molecular function
GO:0005912	adherens junction	TAS	cellular component
GO:0005915	zonula adherens	TAS	cellular component
GO:0007160	cell-matrix adhesion	TAS	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030159	signaling receptor complex adaptor activity	IDA	molecular function
GO:0005158	insulin receptor binding	IDA	molecular function
GO:0030159	signaling receptor complex adaptor activity	ISS	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0032869	cellular response to insulin stimulus	ISS	biological process
GO:0045725	positive regulation of glycogen biosynthetic process	ISS	biological process
GO:0046326	positive regulation of glucose import	ISS	biological process
GO:0046889	positive regulation of lipid biosynthetic process	ISS	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	ISS	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005925	focal adhesion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005158	insulin receptor binding	IDA	molecular function
GO:0030055	cell-substrate junction	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001725	stress fiber	ISS	cellular component
GO:0008286	insulin receptor signaling pathway	ISS	biological process
GO:0043149	stress fiber assembly	ISS	biological process
GO:0046326	positive regulation of glucose import	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048041	focal adhesion assembly	ISS	biological process
GO:0045121	membrane raft	ISS	cellular component
GO:0005912	adherens junction	ISS	cellular component
GO:0046628	positive regulation of insulin receptor signaling pathway	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04910	Insulin signaling pathway
hsa03320	PPAR signaling pathway
hsa04520	Adherens junction

Diseases

Associated diseases	References
type 2 diabetes mellitus	PMID:11532984
obesity	PMID:11532984
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 22906644
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
22906644	Hypospadias	Methylation site (cg22640982)		20 (12 patients with isolated hypospadias and 8 healthy controls)	Male infertility	Microarray