Description: Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA. RefSeq Summary (NM_023083): Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]. Transcript (Including UTRs) Position: hg19 chr2:241,526,133-241,538,526 Size: 12,394 Total Exon Count: 12 Strand: + Coding Region Position: hg19 chr2:241,526,329-241,538,097 Size: 11,769 Coding Exon Count: 12
ID:CAN10_HUMAN DESCRIPTION: RecName: Full=Calpain-10; EC=3.4.22.-; AltName: Full=Calcium-activated neutral proteinase 10; Short=CANP 10; FUNCTION: Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. CATALYTIC ACTIVITY: Broad endopeptidase specificity. TISSUE SPECIFICITY: Ubiquitous. DISEASE: Defects in CAPN10 are a cause of susceptibility to diabetes mellitus non-insulin-dependent type 1 (NIDDM1) [MIM:601283]. It is a multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. SIMILARITY: Belongs to the peptidase C2 family. SIMILARITY: Contains 1 calpain catalytic domain. SEQUENCE CAUTION: Sequence=BAB47474.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
body mass; hemoglobin A(1c) Shima, Y. et al. 2003, Association of the SNP-19 genotype 22 in the calpain-10 gene with elevated body mass index and hemoglobin A1c levels in Japanese., Clinica chimica acta; international journal of clinical chemistry. 2003 Oct;336(2-Jan):89-96.
[PubMed 14500039]
These results indicate the contribution of SNP-19 in CAPN10 to mild obesity and glucose intolerance in Japanese.
diabetes, type 2 Iwasaki, N. et al. 2005, Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population., Journal of human genetics. 2005 ;50(2):92-8.
[PubMed 15696376]
Thus, variation in the calpain-10 gene may affect risk of type 2 diabetes in Japanese, especially in older individuals.
diabetes, type 2 del Bosque-Plata, L. et al. 2004, Association of the calpain-10 gene with type 2 diabetes mellitus in a Mexican population., Molecular genetics and metabolism. 2004 Feb;81(2):122-6.
[PubMed 14741193]
The results suggest that variation in CAPN10 affects risk of type 2 diabetes in the mestizo population of central Mexico (Mexico City and Orizaba) and in Mexican Americans (Starr County, Texas).
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 Q9HC96
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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.
Biological Process: GO:0006508 proteolysis GO:0006921 cellular component disassembly involved in execution phase of apoptosis GO:0031532 actin cytoskeleton reorganization GO:0032024 positive regulation of insulin secretion GO:0032388 positive regulation of intracellular transport GO:0032869 cellular response to insulin stimulus GO:0046326 positive regulation of glucose import GO:0097050 type B pancreatic cell apoptotic process GO:2000676 positive regulation of type B pancreatic cell apoptotic process
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