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CAPN10

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CAPN10
Identifiers
AliasesCAPN10, CANP10, NIDDM1, calpain 10
External IDsOMIM: 605286; MGI: 1344392; HomoloGene: 36323; GeneCards: CAPN10; OMA:CAPN10 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

11132

23830

Ensembl

ENSG00000142330

ENSMUSG00000026270

UniProt

Q9HC96

Q9ESK3

RefSeq (mRNA)

NM_011796

RefSeq (protein)

NP_075571
NP_075573

NP_035926

Location (UCSC)Chr 2: 240.59 – 240.62 MbChr 1: 92.86 – 92.88 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Calpain-10 is a protein that in humans is encoded by the CAPN10 gene.[5][6]

Overview

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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]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000142330 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026270 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ "Entrez Gene: CAPN10 calpain 10".

Further reading

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