InnateDB Protein
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IDBP-478041.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AGK
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Protein Name
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acylglycerol kinase
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000418789
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InnateDB Gene
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IDBG-44452 (AGK)
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Protein Structure
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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}.
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Subcellular Localization |
Mitochondrion membrane {ECO:0000269PubMed:15939762, ECO:0000269PubMed:16269826}.
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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.
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Tissue Specificity |
Highly expressed in muscle, heart, kidney and brain. {ECO:0000269PubMed:15939762}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
12
[view]
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Protein-Protein |
12
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0007205
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protein kinase C-activating G-protein coupled receptor signaling pathway
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GO:0046486
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glycerolipid metabolic process
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q53H12
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PhosphoSite |
PhosphoSite-Q53H12
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TrEMBL |
Q75KN0
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UniProt Splice Variant |
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Entrez Gene |
55750
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UniGene |
Hs.743318
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RefSeq |
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HUGO |
HGNC:21869
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OMIM |
610345
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CCDS |
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HPRD |
08554
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IMGT |
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EMBL |
AC004918
AC073878
AC099547
AJ278150
AK001704
AK222769
BC009775
BC022777
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GenPept |
AAH09775
AAH22777
AAS07537
AAS07538
BAA91848
BAD96489
CAB93536
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