AGK (gene)

AGK
Identifiers
Aliases	AGK, CATC5, CTRCT38, MTDPS10, MULK, acylglycerol kinase
External IDs	OMIM: 610345; MGI: 1917173; HomoloGene: 41239; GeneCards: AGK; OMA:AGK - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q34 Start 141,551,278 bp[1] End 141,655,244 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 B1 Start 40,302,106 bp[2] End 40,373,696 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar hemisphere right hemisphere of cerebellum Brodmann area 9 prefrontal cortex islet of Langerhans bone marrow cells right frontal lobe epithelium of colon Achilles tendon smooth muscle tissue Top expressed in zygote spermatocyte dentate gyrus of hippocampal formation granule cell right kidney yolk sac tail of embryo primary visual cortex superior frontal gyrus ventricular zone embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity ceramide kinase activity nucleotide binding lipid kinase activity diacylglycerol kinase activity ATP binding acylglycerol kinase activity kinase activity NAD+ kinase activity Cellular component mitochondrial outer membrane intracellular membrane-bounded organelle mitochondrion membrane cytosol integral component of mitochondrial inner membrane TIM22 mitochondrial import inner membrane insertion complex mitochondrial inner membrane mitochondrial intermembrane space Biological process glycerolipid metabolic process ceramide biosynthetic process lipid phosphorylation phosphorylation metabolism glycerophospholipid biosynthetic process protein insertion into mitochondrial inner membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55750 69923 Ensembl ENSG00000006530 ENSG00000262327 ENSMUSG00000029916 UniProt Q53H12 Q9ESW4 RefSeq (mRNA) NM_018238 NM_001364948 NM_023538 RefSeq (protein) NP_060708 NP_076027 Location (UCSC) Chr 7: 141.55 – 141.66 Mb Chr 6: 40.3 – 40.37 Mb PubMed search [3] [4]
Wikidata
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The human gene AGK encodes the enzyme mitochondrial acylglycerol kinase.^[5][6][7][8]

The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. It catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10.

Diseases associated with AGK include cataracts and cardiomyopathy. An important paralog of this gene is CERKL.