Homo sapiens Protein: AGK
Summary
InnateDB Protein IDBP-44454.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AGK
Protein Name acylglycerol kinase
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000347581
InnateDB Gene IDBG-44452 (AGK)
Protein Structure
UniProt Annotation
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:0000269PubMed:15939762}.
Subcellular Localization Mitochondrion membrane {ECO:0000269PubMed:15939762, ECO:0000269PubMed:16269826}.
Disease Associations 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:0000269PubMed:22277967, ECO:0000269PubMed:22284826}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:22415731}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in muscle, heart, kidney and brain. {ECO:0000269PubMed:15939762}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 12 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001727 lipid kinase activity
GO:0001729 ceramide kinase activity
GO:0003951 NAD+ kinase activity
GO:0004143 diacylglycerol kinase activity
GO:0005524 ATP binding
GO:0047620 acylglycerol kinase activity
Biological Process
GO:0007205 protein kinase C-activating G-protein coupled receptor signaling pathway
GO:0046486 glycerolipid metabolic process
GO:0046513 ceramide biosynthetic process
GO:0046834 lipid phosphorylation
Cellular Component
GO:0005739 mitochondrion
GO:0016020 membrane
GO:0031966 mitochondrial membrane
GO:0043231 intracellular membrane-bounded organelle
Protein Structure and Domains
PDB ID
InterPro IPR001206 Diacylglycerol kinase, catalytic domain
PFAM PF00781
PRINTS
PIRSF
SMART SM00046
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q53H12
PhosphoSite PhosphoSite-Q53H12
TrEMBL A4D1U5
UniProt Splice Variant
Entrez Gene 55750
UniGene Hs.743318
RefSeq NP_060708
HUGO HGNC:21869
OMIM 610345
CCDS CCDS5865
HPRD 08554
IMGT
EMBL AC004918 AC073878 AC099547 AJ278150 AK001704 AK222769 BC009775 BC022777 CH236950 CH471070
GenPept AAH09775 AAH22777 AAS07537 BAA91848 BAD96489 CAB93536 EAL24020 EAW83972