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MT000840

UniProt Annotations

Entry Information

Gene Name	calpain 10
Protein Entry	CAN10_HUMAN
UniProt ID	Q9HC96
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=8; Name=A; Synonyms=CAPN10a; IsoId=Q9HC96-1; Sequence=Displayed; Name=B; Synonyms=CAPN10b; IsoId=Q9HC96-2; Sequence=VSP_005232, VSP_005233; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=C; Synonyms=CAPN10c; IsoId=Q9HC96-3; Sequence=VSP_005234; Name=D; Synonyms=CAPN10d; IsoId=Q9HC96-4; Sequence=VSP_005235, VSP_005236; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=E; Synonyms=CAPN10e; IsoId=Q9HC96-5; Sequence=VSP_005237, VSP_005238; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=F; Synonyms=CAPN10f; IsoId=Q9HC96-6; Sequence=VSP_005239, VSP_005240; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=G; Synonyms=CAPN10g; IsoId=Q9HC96-7; Sequence=VSP_005241, VSP_005242; Name=H; Synonyms=CAPN10h; IsoId=Q9HC96-8; Sequence=VSP_005243;
Catalytic Activity	Broad endopeptidase specificity.
Disease	Diabetes mellitus, non-insulin-dependent, 1 (NIDDM1) [MIM:601283]: 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. {ECO:0000269\|PubMed:11017071, ECO:0000269\|PubMed:16721485}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Function	Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. May play a role in insulin-stimulated glucose uptake. {ECO:0000269\|PubMed:17572128}.
Sequence Caution	Sequence=BAB47474.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Similarity	Belongs to the peptidase C2 family. {ECO:0000305}.
Similarity	Contains 1 calpain catalytic domain. {ECO:0000255\|PROSITE-ProRule:PRU00239}.
Tissue Specificity	Detected in primary skeletal muscle cells (at protein level). Ubiquitous. {ECO:0000269\|PubMed:17572128}.