SORBS1

Gene Information
 
Gene Symbol
SORBS1
 
Aliases
CAP, FLAF2, R85FL, SH3D5, SH3P12, SORB1
 
Entrez Gene ID
 
Gene Name
Sorbin and SH3 domain containing 1
 
Chromosomal Location
10q23.33
 
HGNC ID
 
Summary
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006936 Biological process Muscle contraction EXP 14627618
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
Protein Information
 
Protein Name
SH3 domain protein 5 , SH3-domain protein 5 (ponsin) , FLAF2 , KIAA1296 , c-Cbl associated protein , sorbin and SH3 domain-containing protein 1 , OTTHUMP00000020144 , ponsin , OTTHUMP00000020147 , c-Cbl-associated protein , sorbin and SH3 domain containing 1, OTTHUMP00000020139 , CAP , FLJ12406 , Fas-ligand associated factor 2 , DKFZp451C066 , KIAA0894 , SH3D5 , SORB1 , OTTHUMP00000020145 , R85FL , OTTHUMP00000020140 , Ponsin , sh3p12 , SH3P12 , OTTHUMP00000020146 , OTTHUMP00000020142 , DKFZp586P1422 , OTTHUMP00000020143
 
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
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00018 SH3_1 SH3 domain
PF02208 Sorb Sorbin homologous domain
PF07653 SH3_2 Variant SH3 domain
PF14604 SH3_9 Variant SH3 domain
 
KEGG
 
OMIM
 
Interactions

Associated Diseases

Diseases References
Hyperandrogenism 12849814
Obesity 11532984, 12849814
   
References
 
Primary:

A single nucleotide polymorphism in exon 7 of sorbin and SH3-domain-containing-1 (SORBS1) in Korean PCOS patients.

Park Jung-Mi, Gu Bon-Hee, Lee Eung-Ji, Kim Jae-Young, Choi Sung-Woo, Baek Kwang-Hyun
Graduate School of Life Science and Biotechnology, Cell and Gene Therapy Research Institute, Pochon CHA University, CHA General Hospital, Seoul 135-081, Korea.
Mol Med Report. 2008 Jan-Feb;1(1):93-7.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
hyperandrogenism 
 
 
Related 
Premature pubarche (n = 79), adolescent girls with hyperandrogenism (n = 56), and healthy nondiabetic controls (n = 50) 
This SORBS1 polymorphism does not play a major role in premature pubarche, hyperandrogenism, and/or polycystic ovary syndrome in our patient population. 

 

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