DGKE
entrez
8526
canonical
uniprot
P52429
canonical
ensembl
ENSG00000153933
resolver
ensp
ENSP00000284061
resolver
ensp
ENSP00000621786
resolver
ensp
ENSP00000726302
resolver
ensp
ENSP00000793853
resolver
genesymbol
DGKE
resolver
genesymbol_syn
DAGK5
resolver
hgnc
HGNC:2852
resolver
uniprot
A1L4Q0
resolver
uniprot
Q8TBM4
resolver
uniprot
Q9UKQ3
resolver
uniprot_entry
A1L4Q0_HUMAN
resolver
uniprot_entry
DGKE_HUMAN
resolver
uniprot_sec
Q8TBM4
resolver
uniprot_sec
Q9UKQ3
resolver
activity_regulation
ACTIVITY REGULATION: Undergoes competitive inhibition by its own product 1,2-diacyl-sn-glycero-3-phosphate/phosphatidic acid. The strongest inhibition being observed in vitro with 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate, a major intermediate in the phosphatidylinositol turnover cycle and more generally by diacylglycerols with an arachidonoyl acyl chain at the sn-2 position. {ECO:0000269|PubMed:19744926}.
uniprot
proteins
amino_acid_sequence
MEAERRPAPGSPSEGLFADGHLILWTLCSVLLPVFITFWCSLQRSRRQLHRRDIFRKSKHGWRDTDLFSQPTYCCVCAQHILQGAFCDCCGLRVDEGCLRKADKRFQCKEIMLKNDTKVLDAMPHHWIRGNVPLCSYCMVCKQQCGCQPKLCDYRCIWCQKTVHDECMKNSLKNEKCDFGEFKNLIIPPSYLTSINQMRKDKKTDYEVLASKLGKQWTPLIILANSRSGTNMGEGLLGEFRILLNPVQVFDVTKTPPIKALQLCTLLPYYSARVLVCGGDGTVGWVLDAVDDMKIKGQEKYIPQVAVLPLGTGNDLSNTLGWGTGYAGEIPVAQVLRNVMEADGIKLDRWKVQVTNKGYYNLRKPKEFTMNNYFSVGPDALMALNFHAHREKAPSLFSSRILNKAVYLFYGTKDCLVQECKDLNKKVELELDGERVALPSLEGIIVLNIGYWGGGCRLWEGMGDETYPLARHDDGLLEVVGVYGSFHCAQIQVKLANPFRIGQAHTVRLILKCSMMPMQVDGEPWAQGPCTVTITHKTHAMMLYFSGEQTDDDISSTSDQEDIKATE
uniprot
proteins
disease_involvement
DISEASE: Nephrotic 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 variants affecting the gene represented in this entry.; DISEASE: Hemolytic 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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.1.107
uniprot
proteins
function
FUNCTION: Membrane-bound diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:15544348, PubMed:19744926, PubMed:21477596, PubMed:22108654, PubMed:23949095). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (PubMed:15544348, PubMed:8626589). Also plays an important role in the biosynthesis of complex lipids (PubMed:8626589). Displays specificity for diacylglycerol substrates with an arachidonoyl acyl chain at the sn-2 position, with the highest activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol the main diacylglycerol intermediate within the phosphatidylinositol turnover cycle (PubMed:19744926, PubMed:22108654, PubMed:23274426). Can also phosphorylate diacylglycerol substrates with a linoleoyl acyl chain at the sn-2 position but much less efficiently (PubMed:22108654). {ECO:0000269|PubMed:15544348, ECO:0000269|PubMed:19744926, ECO:0000269|PubMed:21477596, ECO:0000269|PubMed:22108654, ECO:0000269|PubMed:23274426, ECO:0000269|PubMed:23949095, ECO:0000303|PubMed:15544348, ECO:0000303|PubMed:8626589}.
uniprot
proteins
mass_dalton
63927
uniprot
proteins
mutagenesis
MUTAGEN 431; /note="L->I: Decreased diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol."; /evidence="ECO:0000269|PubMed:21477596"; MUTAGEN 431; /note="L->S: Loss of diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol."; /evidence="ECO:0000269|PubMed:21477596"; MUTAGEN 438; /note="L->I: Decreased diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol."; /evidence="ECO:0000269|PubMed:21477596"; MUTAGEN 438; /note="L->M: Decreased protein abundance and diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol."; /evidence="ECO:0000269|PubMed:21477596"; MUTAGEN 438; /note="L->S,A,G: Loss of diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol."; /evidence="ECO:0000269|PubMed:21477596"; MUTAGEN 439; /note="P->G: Decreased diacylglycerol kinase activity toward 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol."; /evidence="ECO:0000269|PubMed:21477596
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; glycerolipid metabolism. {ECO:0000305|PubMed:15544348}.
uniprot
proteins
protein_family
Eukaryotic diacylglycerol kinase family
uniprot
proteins
pubmed
10571048
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15544348
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18004883
uniprot
proteins
pubmed
19744926
uniprot
proteins
pubmed
21477596
uniprot
proteins
pubmed
22108654
uniprot
proteins
pubmed
23274426
uniprot
proteins
pubmed
23542698
uniprot
proteins
pubmed
23949095
uniprot
proteins
pubmed
8626589
uniprot
proteins
sequence_length
567
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:23542698}; Single-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:23542698}.
uniprot
proteins
transmembrane_region
TRANSMEM 22..42; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins