Description: Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA. RefSeq Summary (NM_018238): The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]. Transcript (Including UTRs) Position: hg19 chr7:141,251,078-141,354,209 Size: 103,132 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr7:141,255,267-141,352,724 Size: 97,458 Coding Exon Count: 15
ID:AGK_HUMAN DESCRIPTION: RecName: Full=Acylglycerol kinase, mitochondrial; Short=hAGK; EC=220.127.116.11; EC=18.104.22.168; AltName: Full=Multiple substrate lipid kinase; Short=HsMuLK; Short=MuLK; Short=Multi-substrate lipid kinase; Flags: Precursor; 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. CATALYTIC ACTIVITY: ATP + acylglycerol = ADP + acyl-sn-glycerol 3- phosphate. CATALYTIC ACTIVITY: ATP + 1,2-diacylglycerol = ADP + 1,2-diacyl- sn-glycerol 3-phosphate. COFACTOR: Magnesium. PATHWAY: Lipid metabolism; glycerolipid metabolism. SUBCELLULAR LOCATION: Mitochondrion membrane. TISSUE SPECIFICITY: Highly expressed in muscle, heart, kidney and brain. DISEASE: Defects in AGK are the cause of mitochondrial DNA depletion syndrome type 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. DISEASE: Defects in AGK are the cause of cataract, congenital, autosomal recessive type 5 (CATC5) [MIM:614691]. CATC5 consists of 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. 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. SIMILARITY: Contains 1 DAGKc domain.
Genetic Association Studies of Complex Diseases and Disorders
Dehydroepiandrosterone Sulfate Guangju Zhai et al. PLoS genetics 2011, Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms., PLoS genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q53H12
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.