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MT001175

UniProt Annotations

Entry Information

Gene Name	acylglycerol kinase
Protein Entry	AGK_HUMAN
UniProt ID	Q53H12
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q53H12-1; Sequence=Displayed; Name=2; IsoId=Q53H12-2; Sequence=VSP_020925, VSP_020926; Note=No experimental confirmation available.;
Catalytic Activity	ATP + 1,2-diacyl-sn-glycerol = ADP + 1,2- diacyl-sn-glycerol 3-phosphate.
Catalytic Activity	ATP + acylglycerol = ADP + acyl-sn-glycerol 3- phosphate.
Cofactor	Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000269\|PubMed:15939762};
Disease	Cataract 38 (CTRCT38) [MIM:614691]: An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269\|PubMed:22415731}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Mitochondrial DNA depletion syndrome 10 (MTDPS10) [MIM:212350]: An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy. {ECO:0000269\|PubMed:22277967, ECO:0000269\|PubMed:22284826}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively. Does not phosphorylate sphingosine. Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth. {ECO:0000269\|PubMed:15939762}.
Miscellaneous	Overexpressed in prostate cancer, suggesting that it may play a role in initiation and progression of prostate cancer, processes in which LPA plays key roles.
Pathway	Lipid metabolism; glycerolipid metabolism.
Similarity	Contains 1 DAGKc domain. {ECO:0000255\|PROSITE- ProRule:PRU00783}.
Subcellular Location	Mitochondrion membrane {ECO:0000269\|PubMed:15939762, ECO:0000269\|PubMed:16269826}.
Tissue Specificity	Highly expressed in muscle, heart, kidney and brain. {ECO:0000269\|PubMed:15939762}.