Human Gene SORBS1 (uc001kkx.1) Description and Page Index
Description: Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 2, mRNA. RefSeq Summary (NM_015385): 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]. Transcript (Including UTRs) Position: hg19 chr10:97,173,818-97,321,171 Size: 147,354 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr10:97,174,167-97,200,892 Size: 26,726 Coding Exon Count: 6
ID:F2Z2S3_HUMAN DESCRIPTION: SubName: Full=Sorbin and SH3 domain-containing protein 1; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
Genetic Association Studies of Complex Diseases and Disorders
diabetes, type 2 Lin WH et al. 2001, Molecular scanning of the human sorbin and SH3-domain-containing-1 (SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes., Human molecular genetics. 2001 Aug;10(17):1753-60.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
ModBase Predicted Comparative 3D Structure on F2Z2S3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.