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CAPN10 - Wikipedia
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Protein-coding gene in humans
CAPN10 Identifiers Aliases CAPN10, CANP10, NIDDM1, calpain 10 External IDs OMIM: 605286; MGI: 1344392; HomoloGene: 36323; GeneCards: CAPN10; OMA:CAPN10 - orthologs Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q37.3 Start 240,586,734 bp[1] End 240,617,705 bp[1] Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 D Start 92,862,098 bp[2] End 92,875,663 bp[2] RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in
- apex of heart
- right hemisphere of cerebellum
- granulocyte
- spleen
- anterior pituitary
- right uterine tube
- right frontal lobe
- tibial nerve
- left testis
- right testis
Top expressed in
- spermatocyte
- otic vesicle
- neural layer of retina
- yolk sac
- dentate gyrus of hippocampal formation granule cell
- lip
- saccule
- right kidney
- ventricular zone
- seminiferous tubule
More reference expression data BioGPS
More reference expression data Gene ontology Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO Orthologs Species Human Mouse Entrez
11132
23830
Ensembl
ENSG00000142330
ENSMUSG00000026270
UniProt
Q9HC96
Q9ESK3
RefSeq (mRNA) NM_023089
NM_021251
NM_023083
NM_023084
NM_023085
NM_023086
NM_023087
NM_023088
NM_011796
RefSeq (protein)
NP_075571
NP_075573
NP_035926
Location (UCSC) Chr 2: 240.59 – 240.62 Mb Chr 1: 92.86 – 92.88 Mb PubMed search [3] [4] Wikidata View/Edit Human View/Edit Mouse
Calpain-10 is a protein that in humans is encoded by the CAPN10 gene.[5][6]
Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The typical 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. The heterodimer interface is predominantly found between domain IV and the small subunit, which is also a 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 therefore cannot heterodimerize with the small subunit. 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 located within the NIDDM1 region. Multiple alternative transcript variants encoding different isoforms have been described for this gene.[7]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000142330 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026270 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, Hinokio Y, Lindner TH, Mashima H, Schwarz PE, del Bosque-Plata L, Horikawa Y, Oda Y, Yoshiuchi I, Colilla S, Polonsky KS, Wei S, Concannon P, Iwasaki N, Schulze J, Baier LJ, Bogardus C, Groop L, Boerwinkle E, Hanis CL, Bell GI (Nov 2000). "Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus" (PDF). Nat Genet. 26 (2): 163–75. doi:10.1038/79876. PMID 11017071. S2CID 5940859. Archived from the original (PDF) on 2017-09-21. Retrieved 2019-09-19.
- ^ Baier LJ, Permana PA, Yang X, Pratley RE, Hanson RL, Shen GQ, Mott D, Knowler WC, Cox NJ, Horikawa Y, Oda N, Bell GI, Bogardus C (Oct 2000). "A calpain-10 gene polymorphism is associated with reduced muscle mRNA levels and insulin resistance". J Clin Invest. 106 (7): R69–73. doi:10.1172/JCI10665. PMC 387246. PMID 11018080.
- ^ "Entrez Gene: CAPN10 calpain 10".
- Sorimachi H, Ishiura S, Suzuki K (1998). "Structure and physiological function of calpains". Biochem. J. 328 (3): 721–32. doi:10.1042/bj3280721. PMC 1218978. PMID 9396712.
- Cox NJ, Hayes MG, Roe CA, et al. (2004). "Linkage of calpain 10 to type 2 diabetes: the biological rationale". Diabetes. 53 (Suppl 1): S19–25. doi:10.2337/diabetes.53.2007.s19. PMID 14749261.
- Turner MD, Cassell PG, Hitman GA (2006). "Calpain-10: from genome search to function". Diabetes Metab. Res. Rev. 21 (6): 505–14. doi:10.1002/dmrr.578. PMID 16028216. S2CID 39651682.
- Horikawa Y (2007). "Calpain-10 (NIDDM1) as a Susceptibility Gene for Common Type 2 Diabetes". Endocr. J. 53 (5): 567–76. doi:10.1507/endocrj.KR-70. PMID 16873988.
- Nagase T, Nakayama M, Nakajima D, et al. (2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
- Ma H, Fukiage C, Kim YH, et al. (2001). "Characterization and expression of calpain 10. A novel ubiquitous calpain with nuclear localization". J. Biol. Chem. 276 (30): 28525–31. doi:10.1074/jbc.M100603200. PMID 11375982.
- Evans JC, Frayling TM, Cassell PG, et al. (2001). "Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom". Am. J. Hum. Genet. 69 (3): 544–52. doi:10.1086/323315. PMC 1235484. PMID 11481585.
- Tsai HJ, Sun G, Weeks DE, et al. (2002). "Type 2 diabetes and three calpain-10 gene polymorphisms in Samoans: no evidence of association". Am. J. Hum. Genet. 69 (6): 1236–44. doi:10.1086/324646. PMC 1235535. PMID 11704924.
- Woollard JR, Rothschild MF (2002). "Assignment of the porcine calpain-10 gene (CAPN10) to chromosome 15q23-26". Anim. Genet. 32 (6): 393. doi:10.1046/j.1365-2052.2001.0781d.x. PMID 11736815.
- Xiang K, Fang Q, Zheng T, et al. (2002). "[The impact of calpain-10 gene combined-SNP variation on type 2 diabetes mellitus and its related metabolic traits]". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 18 (6): 426–30. PMID 11774208.
- Elbein SC, Chu W, Ren Q, et al. (2002). "Role of calpain-10 gene variants in familial type 2 diabetes in Caucasians". J. Clin. Endocrinol. Metab. 87 (2): 650–4. doi:10.1210/jcem.87.2.8210. PMID 11836299.
- Daimon M, Oizumi T, Saitoh T, et al. (2002). "Calpain 10 gene polymorphisms are related, not to type 2 diabetes, but to increased serum cholesterol in Japanese". Diabetes Res. Clin. Pract. 56 (2): 147–52. doi:10.1016/S0168-8227(01)00372-2. PMID 11891023.
- Fullerton SM, Bartoszewicz A, Ybazeta G, et al. (2002). "Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus". Am. J. Hum. Genet. 70 (5): 1096–106. doi:10.1086/339930. PMC 447588. PMID 11891618.
- Hoffstedt J, Rydén M, Löfgren P, et al. (2002). "Polymorphism in the Calpain 10 gene influences glucose metabolism in human fat cells". Diabetologia. 45 (2): 276–82. doi:10.1007/s00125-001-0732-2. PMID 11935160.
- Malecki MT, Moczulski DK, Klupa T, et al. (2002). "Homozygous combination of calpain 10 gene haplotypes is associated with type 2 diabetes mellitus in a Polish population". Eur. J. Endocrinol. 146 (5): 695–9. doi:10.1530/eje.0.1460695. PMID 11980626.
- Sun HX, Zhang KX, Du WN, et al. (2002). "Single nucleotide polymorphisms in CAPN10 gene of Chinese people and its correlation with type 2 diabetes mellitus in Han people of northern China". Biomed. Environ. Sci. 15 (1): 75–82. PMID 12046551.
- Haddad L, Evans JC, Gharani N, et al. (2002). "Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome". J. Clin. Endocrinol. Metab. 87 (6): 2606–10. doi:10.1210/jcem.87.6.8608. PMID 12050223.
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