CAPN10

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)
End	240,617,705 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	92,875,663 bp
RNA expression pattern
	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
	; ;
	More reference expression data
Gene ontology
Molecular function	cytoskeletal protein binding; peptidase activity; cysteine-type peptidase activity; hydrolase activity; SNARE binding; calcium-dependent cysteine-type endopeptidase activity;
Cellular component	intracellular anatomical structure; cytosol; plasma membrane; mitochondrion; cytoplasm;
Biological process	actin cytoskeleton reorganization; positive regulation of glucose import; cellular component disassembly involved in execution phase of apoptosis; positive regulation of intracellular transport; positive regulation of type B pancreatic cell apoptotic process; proteolysis; positive regulation of insulin secretion; cellular response to insulin stimulus; type B pancreatic cell apoptotic process;
	Sources:Amigo / QuickGO
Orthologs
	11132
	23830
	ENSG00000142330
	ENSMUSG00000026270
	Q9HC96
	Q9ESK3
NM_023089; NM_021251; NM_023083; NM_023084; NM_023085;
	NM_023086; NM_023087; NM_023088
	NM_011796
	NP_075571; NP_075573
	NP_035926
	Wikidata
View/Edit Human	View/Edit Mouse

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

Overview

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

^ ^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".

External links

The MEROPS online database for peptidases and their inhibitors: C02.018 Archived 2008-02-28 at the Wayback Machine
Human CAPN10 genome location and CAPN10 gene details page in the UCSC Genome Browser.