SORBS1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

SORBS1

Aliases

CAP, FLAF2, R85FL, SH3D5, SH3P12, SORB1

Entrez Gene ID

10580

Gene Name

Sorbin and SH3 domain containing 1

Chromosomal Location

10q24.1

HGNC ID

HGNC:14565

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. [provided by RefSeq, Mar 2014]

RefSeq DNA

NG_034041.1

RefSeq mRNA

NM_024991.3, NM_006434.3, NM_015385.4, NM_001034954.2, NM_001034955.2, NM_001034956.2, NM_001034957.2, NM_001290294.2, NM_001290295.2, NM_001290296.2, NM_001290297.2, NM_001290298.2, NM_001377197.1, NM_001377198.1, NM_001377199.1, NM_001377200.1, NM_001377201.1, NM_001377202.1, NM_001377203.1, NM_001377204.1, NM_001377205.1, NM_001377206.1, NM_001377207.1, NM_001377208.1, NM_001377209.1

e!Ensembl

Gene	ENSG00000095637
Transcript	ENST00000371227, ENST00000649911, ENST00000371249, ENST00000306402, ENST00000634504, ENST00000607232, ENST00000647619, ENST00000649575, ENST00000361941, ENST00000277982, ENST00000371245, ENST00000371241, ENST00000354106, ENST00000371239, ENST00000371228, ENST00000486141, ENST00000492542, ENST00000371246, ENST00000371247
Protein	ENSP00000360271, ENSP00000497554, ENSP00000360295, ENSP00000302556, ENSP00000489022, ENSP00000475901, ENSP00000496969, ENSP00000497106, ENSP00000355136, ENSP00000277982, ENSP00000360291, ENSP00000360285, ENSP00000277984, ENSP00000360283, ENSP00000360272, ENSP00000473813, ENSP00000474932, ENSP00000360292, ENSP00000360293

Gene Ontology (GO)

Show/Hide all(15 )

GO ID	Ontology	Function	Evidence	Reference
GO:0007160	Biological process	Cell-matrix adhesion	TAS	10085297
GO:0032869	Biological process	Cellular response to insulin stimulus	ISS	11001060
GO:0045725	Biological process	Positive regulation of glycogen biosynthetic process	ISS	11001060
GO:0046326	Biological process	Positive regulation of glucose import	ISS	11001060
GO:0046889	Biological process	Positive regulation of lipid biosynthetic process	ISS	11001060
GO:0005634	Cellular component	Nucleus	IDA	11371513
GO:0005829	Cellular component	Cytosol	ISS	9447983
GO:0005899	Cellular component	Insulin receptor complex	IDA	11374898
GO:0005915	Cellular component	Zonula adherens	TAS	10085297
GO:0003779	Molecular function	Actin binding	TAS	10085297
GO:0005070	Molecular function	SH3/SH2 adaptor activity	IC	11374898
GO:0005070	Molecular function	SH3/SH2 adaptor activity	ISS	9447983
GO:0005158	Molecular function	Insulin receptor binding	IDA	11374898
GO:0005515	Molecular function	Protein binding	IPI	11371513, 11374898, 12504111, 16374509, 17500595, 19116150, 23892081
GO:0008092	Molecular function	Cytoskeletal protein binding	TAS	10085297

Protein Information

Protein Name

Sorbin and SH3 domain-containing protein 1, Fas-ligand associated factor 2, SH3 domain protein 5, c-Cbl associated protein, ponsin

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).

Refseq Proteins

NP_079267.2, NP_006425.3, NP_056200.2, NP_001030126.2, NP_001030127.2, NP_001030128.2, NP_001030129.2, NP_001277223.2, NP_001277224.2, NP_001277225.2, NP_001277226.2, NP_001277227.2, NP_001364126.1, NP_001364127.1, NP_001364128.1, NP_001364129.1, NP_001364130.1, NP_001364131.1, NP_001364132.1, NP_001364133.1, NP_001364134.1, NP_001364135.1, NP_001364136.1, NP_001364137.1, NP_001364138.1

UniProt

Q9BX66

PDB

2O9V, 2DL3, 2ECZ, 2LJ0, 2LJ1, 2MOX, 2O2W, 2O31, 2O9S, 4LN2, 4LNP