DegronMD - Q8NE86(MCU)

FUNCTION: Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria (PubMed:21685888, PubMed:21685886, PubMed:23101630, PubMed:22904319, PubMed:23178883, PubMed:22829870, PubMed:22822213, PubMed:24332854, PubMed:23755363, PubMed:26341627). Constitutes the pore-forming and calcium-conducting subunit of the uniporter complex (uniplex) (PubMed:23755363). Activity is regulated by MICU1 and MICU2. At low Ca(2+) levels MCU activity is down-regulated by MICU1 and MICU2; at higher Ca(2+) levels MICU1 increases MCU activity (PubMed:24560927, PubMed:26903221). Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways. Involved in buffering the amplitude of systolic calcium rises in cardiomyocytes (PubMed:22822213). While dispensable for baseline homeostatic cardiac function, acts as a key regulator of short-term mitochondrial calcium loading underlying a 'fight-or-flight' response during acute stress: acts by mediating a rapid increase of mitochondrial calcium in pacemaker cells (PubMed:25603276). participates in mitochondrial permeability transition during ischemia-reperfusion injury (By similarity). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (PubMed:22904319, PubMed:22829870). Mitochondrial calcium uptake in skeletal muscle cells is involved in muscle size in adults (By similarity). Regulates synaptic vesicle endocytosis kinetics in central nerve terminal (By similarity). Involved in antigen processing and presentation (By similarity). {ECO:0000250|UniProtKB:Q3UMR5, ECO:0000269|PubMed:21685886, ECO:0000269|PubMed:21685888, ECO:0000269|PubMed:22822213, ECO:0000269|PubMed:22829870, ECO:0000269|PubMed:22904319, ECO:0000269|PubMed:23101630, ECO:0000269|PubMed:23178883, ECO:0000269|PubMed:23755363, ECO:0000269|PubMed:24332854, ECO:0000269|PubMed:24560927, ECO:0000269|PubMed:25603276, ECO:0000269|PubMed:26341627, ECO:0000269|PubMed:26903221}. View more >>

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Mutation	Sample	Cancer	Dataset	Degron hit	Class	Location	Type	Impact score
p.A4T	TCGA-2W-A8YY	CESC	TCGA	GRSLLLLLS	DEG_APCC_DBOX_1	6:14	Mutation blocking phosphorylation signal	0.7222
p.A4T	DO223732	CESC	ICGC	GRSLLLLLS	DEG_APCC_DBOX_1	6:14	Mutation blocking phosphorylation signal	0.7222
p.G18A	TCGA-VQ-A8P2	STAD	TCGA	GRSLLLLLS	DEG_APCC_DBOX_1	6:14	Mutation rewiring degron network	0.2222
p.G18A	DO51761	STAD	ICGC	GRSLLLLLS	DEG_APCC_DBOX_1	6:14	Mutation rewiring degron network	0.2222
p.W9L	DO229036	LICA	ICGC	GRSLLLLLS	DEG_APCC_DBOX_1	6:14	Mutation altering degron motif	0.7015
p.R5M	DO231155	LUSC	ICGC	GRSLLLLLS	DEG_APCC_DBOX_1	6:14	Mutation blocking phosphorylation signal	0.75
p.L12F	ACH-000997	Colon/Colorectal Cancer	CCLE	GRSLLLLLS	DEG_APCC_DBOX_1	6:14	Mutation altering degron motif	0.587
p.S23P	Set2	haematopoietic and lymphoid tissue	COSMIC	GRSLLLLLS	DEG_APCC_DBOX_1	6:14	Mutation rewiring degron network	0.0833
p.S23P	KON	upper aerodigestive tract	COSMIC	GRSLLLLLS	DEG_APCC_DBOX_1	6:14	Mutation rewiring degron network	0.0833
p.S23P	SBC-3	lung	COSMIC	GRSLLLLLS	DEG_APCC_DBOX_1	6:14	Mutation rewiring degron network	0.0833

DegronMD: protein-targeted degradation, mutation and drug response to degrons

MCU

UniProt ID: Q8NE86

Entrez ID: 90550

Protein name: Calcium uniporter protein, mitochondrial (HsMCU) (Coiled-coil domain-containing protein 109A)

External links: UniprotKB HGNC RefSeq COSMIC

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Kaplan plot for MCU in