InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DGKE

Summary

InnateDB Protein

IDBP-60174.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DGKE

Protein Name

diacylglycerol kinase, epsilon 64kDa

Synonyms

DAGK5; DAGK6; DGK; NPHS7;

Species

Homo sapiens

Ensembl Protein

ENSP00000284061

InnateDB Gene

IDBG-60172 (DGKE)

Protein Structure

UniProt Annotation

Function

Highly 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.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Membrane {ECO:0000269PubMed:23542698}. Cytoplasm {ECO:0000269PubMed:23542698}.

Disease Associations

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:0000269PubMed:23274426}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:23542698}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Expressed predominantly in testis. Expressed in endothelium, platelets and podocytes (at protein level). {ECO:0000269PubMed:23542698}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003951	NAD+ kinase activity
GO:0004143	diacylglycerol kinase activity
GO:0005524	ATP binding
GO:0046872	metal ion binding

Biological Process

GO:0007205	protein kinase C-activating G-protein coupled receptor signaling pathway
GO:0007596	blood coagulation
GO:0008654	phospholipid biosynthetic process
GO:0016310	phosphorylation
GO:0030168	platelet activation
GO:0035556	intracellular signal transduction

Cellular Component

GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000756 Diacylglycerol kinase, accessory domain
IPR001206 Diacylglycerol kinase, catalytic domain
IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domain

PFAM

PF00609
PF00781
PF00130

PRINTS

PIRSF

SMART

SM00045
SM00046
SM00109

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P52429