Human Gene CAST (uc010jbj.3) Description and Page Index
Description: Homo sapiens calpastatin (CAST), transcript variant 2, mRNA. RefSeq Summary (NM_173060): The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]. Transcript (Including UTRs) Position: hg19 chr5:96,076,970-96,110,385 Size: 33,416 Total Exon Count: 18 Strand: + Coding Region Position: hg19 chr5:96,078,365-96,107,383 Size: 29,019 Coding Exon Count: 15
Alcohol dependence Treutlein ,et al. 2009, Genome-wide association study of alcohol dependence, Archives of general psychiatry 2009 66- 7 : 773-84.
blood pressure, arterial hypertension Kokubo, Y. et al. 2006, Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension, Hypertens Res 2006 29(8) 611-9.
Hodgkin Disease Kevin Y Urayama et al. Journal of the National Cancer Institute 2012, Genome-wide association study of classical Hodgkin lymphoma and Epstein-Barr virus status-defined subgroups., Journal of the National Cancer Institute.
Overall, these results provide strong evidence that EBV status is an etiologically important classification of cHL and also suggest that some components of the pathological process are common to both EBV-positive and EBV-negative patients.
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.
ModBase Predicted Comparative 3D Structure on Q86YM9
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.