MGP Database

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MGP003584

UniProt Annotations

Entry Information
Gene Namediacylglycerol kinase, epsilon 64kDa
Protein EntryDGKE_HUMAN
UniProt IDP52429
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P52429-1; Sequence=Displayed; Name=2; IsoId=P52429-2; Sequence=VSP_056957, VSP_056958; Note=No experimental confirmation available.;
Catalytic ActivityATP + 1,2-diacyl-sn-glycerol = ADP + 1,2- diacyl-sn-glycerol 3-phosphate.
DiseaseHemolytic uremic syndrome atypical 7 (AHUS7) [MIM:615008]: An atypical form of hemolytic uremic syndrome characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system. {ECO:0000269|PubMed:23542698}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
DiseaseNephrotic syndrome 7 (NPHS7) [MIM:615008]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. NPHS7 is an autosomal recessive form characterized by onset of proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. {ECO:0000269|PubMed:23274426}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHighly selective for arachidonate-containing species of diacylglycerol (DAG). May terminate signals transmitted through arachidonoyl-DAG or may contribute to the synthesis of phospholipids with defined fatty acid composition.
SimilarityBelongs to the eukaryotic diacylglycerol kinase family. {ECO:0000305}.
SimilarityContains 1 DAGKc domain. {ECO:0000255|PROSITE- ProRule:PRU00783}.
SimilarityContains 2 phorbol-ester/DAG-type zinc fingers. {ECO:0000255|PROSITE-ProRule:PRU00226}.
Subcellular LocationMembrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Membrane {ECO:0000269|PubMed:23542698}. Cytoplasm {ECO:0000269|PubMed:23542698}.
Tissue SpecificityExpressed predominantly in testis. Expressed in endothelium, platelets and podocytes (at protein level). {ECO:0000269|PubMed:23542698}.
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