Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P52429 (DGKE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Diacylglycerol kinase epsilon

Short name=DAG kinase epsilon
EC=2.7.1.107
Alternative name(s):
Diglyceride kinase epsilon
Short name=DGK-epsilon
Gene names
Name:DGKE
Synonyms:DAGK5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length567 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Catalytic activity

ATP + 1,2-diacyl-sn-glycerol = ADP + 1,2-diacyl-sn-glycerol 3-phosphate.

Subcellular location

Membrane; Multi-pass membrane protein Potential. Membrane. Cytoplasm Ref.4.

Tissue specificity

Expressed predominantly in testis. Expressed in endothelium, platelets and podocytes (at protein level). Ref.4

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the eukaryotic diacylglycerol kinase family.

Contains 1 DAGKc domain.

Contains 2 phorbol-ester/DAG-type zinc fingers.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 567567Diacylglycerol kinase epsilon
PRO_0000218464

Regions

Transmembrane22 – 4221Helical; Potential
Transmembrane436 – 45621Helical; Potential
Domain215 – 356142DAGKc
Zinc finger59 – 10850Phorbol-ester/DAG-type 1
Zinc finger124 – 17754Phorbol-ester/DAG-type 2

Natural variations

Natural variant631R → P in AHUS7. Ref.4
Corresponds to variant rs312262694 [ dbSNP | Ensembl ].
VAR_069804
Natural variant991L → R in a breast cancer sample; somatic mutation. Ref.5
VAR_036120
Natural variant2731R → P in AHUS7. Ref.4
Corresponds to variant rs312262695 [ dbSNP | Ensembl ].
VAR_069805

Sequences

Sequence LengthMass (Da)Tools
P52429 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: BC334AD15FB4D0B4

FASTA56763,927
        10         20         30         40         50         60 
MEAERRPAPG SPSEGLFADG HLILWTLCSV LLPVFITFWC SLQRSRRQLH RRDIFRKSKH 

        70         80         90        100        110        120 
GWRDTDLFSQ PTYCCVCAQH ILQGAFCDCC GLRVDEGCLR KADKRFQCKE IMLKNDTKVL 

       130        140        150        160        170        180 
DAMPHHWIRG NVPLCSYCMV CKQQCGCQPK LCDYRCIWCQ KTVHDECMKN SLKNEKCDFG 

       190        200        210        220        230        240 
EFKNLIIPPS YLTSINQMRK DKKTDYEVLA SKLGKQWTPL IILANSRSGT NMGEGLLGEF 

       250        260        270        280        290        300 
RILLNPVQVF DVTKTPPIKA LQLCTLLPYY SARVLVCGGD GTVGWVLDAV DDMKIKGQEK 

       310        320        330        340        350        360 
YIPQVAVLPL GTGNDLSNTL GWGTGYAGEI PVAQVLRNVM EADGIKLDRW KVQVTNKGYY 

       370        380        390        400        410        420 
NLRKPKEFTM NNYFSVGPDA LMALNFHAHR EKAPSLFSSR ILNKAVYLFY GTKDCLVQEC 

       430        440        450        460        470        480 
KDLNKKVELE LDGERVALPS LEGIIVLNIG YWGGGCRLWE GMGDETYPLA RHDDGLLEVV 

       490        500        510        520        530        540 
GVYGSFHCAQ IQVKLANPFR IGQAHTVRLI LKCSMMPMQV DGEPWAQGPC TVTITHKTHA 

       550        560 
MMLYFSGEQT DDDISSTSDQ EDIKATE 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning of a novel human diacylglycerol kinase highly selective for arachidonate-containing substrates."
Tang W., Bunting M., Zimmerman G.A., McIntyre T.M., Prescott S.M.
J. Biol. Chem. 271:10237-10241(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Umbilical vein endothelial cell.
[2]"Characterization of the human diacylglycerol kinase epsilon gene and its assessment as a candidate for inherited retinitis pigmentosa."
Tang W., Bardien S., Bhattacharya S.S., Prescott S.M.
Gene 239:185-192(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-154.
[3]"DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN."
Ozaltin F., Li B., Rauhauser A., An S.W., Soylemezoglu O., Gonul I.I., Taskiran E.Z., Ibsirlioglu T., Korkmaz E., Bilginer Y., Duzova A., Ozen S., Topaloglu R., Besbas N., Ashraf S., Du Y., Liang C., Chen P. expand/collapse author list , Lu D., Vadnagara K., Arbuckle S., Lewis D., Wakeland B., Quigg R.J., Ransom R.F., Wakeland E.K., Topham M.K., Bazan N.G., Mohan C., Hildebrandt F., Bakkaloglu A., Huang C.L., Attanasio M.
J. Am. Soc. Nephrol. 24:377-384(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN NPHS7.
[4]"Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome."
Lemaire M., Fremeaux-Bacchi V., Schaefer F., Choi M., Tang W.H., Le Quintrec M., Fakhouri F., Taque S., Nobili F., Martinez F., Ji W., Overton J.D., Mane S.M., Nuernberg G., Altmueller J., Thiele H., Morin D., Deschenes G. expand/collapse author list , Baudouin V., Llanas B., Collard L., Majid M.A., Simkova E., Nuernberg P., Rioux-Leclerc N., Moeckel G.W., Gubler M.C., Hwa J., Loirat C., Lifton R.P.
Nat. Genet. 45:531-536(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANTS AHUS7 PRO-63 AND PRO-273.
[5]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-99.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U49379 mRNA. Translation: AAC50497.1.
AF136745 Genomic DNA. Translation: AAD45666.1.
CCDSCCDS11590.1.
RefSeqNP_003638.1. NM_003647.2.
UniGeneHs.239514.

3D structure databases

ProteinModelPortalP52429.
SMRP52429. Positions 122-172.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114096. 9 interactions.
IntActP52429. 3 interactions.
STRING9606.ENSP00000284061.

Chemistry

ChEMBLCHEMBL1075187.

PTM databases

PhosphoSiteP52429.

Polymorphism databases

DMDM1708625.

Proteomic databases

MaxQBP52429.
PaxDbP52429.
PRIDEP52429.

Protocols and materials databases

DNASU8526.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000284061; ENSP00000284061; ENSG00000153933.
GeneID8526.
KEGGhsa:8526.
UCSCuc002iur.3. human.

Organism-specific databases

CTD8526.
GeneCardsGC17P054911.
GeneReviewsDGKE.
HGNCHGNC:2852. DGKE.
HPAHPA017167.
MIM601440. gene.
615008. phenotype.
neXtProtNX_P52429.
Orphanet357008. Atypical hemolytic uremic syndrome with DGKE deficiency.
329903. Immunoglobulin-mediated membranoproliferative glomerulonephritis.
PharmGKBPA27313.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47311.
HOGENOMHOG000220913.
HOVERGENHBG051347.
InParanoidP52429.
KOK00901.
OMACMKTSLK.
OrthoDBEOG71VSS6.
PhylomeDBP52429.
TreeFamTF313104.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_604. Hemostasis.

Gene expression databases

ArrayExpressP52429.
BgeeP52429.
CleanExHS_DGKE.
GenevestigatorP52429.

Family and domain databases

InterProIPR016064. ATP-NAD_kinase_PpnK-typ.
IPR000756. Diacylglycerol_kin_accessory.
IPR001206. Diacylglycerol_kinase_cat_dom.
IPR002219. Prot_Kinase_C-like_PE/DAG-bd.
[Graphical view]
PfamPF00130. C1_1. 2 hits.
PF00609. DAGK_acc. 1 hit.
PF00781. DAGK_cat. 1 hit.
[Graphical view]
SMARTSM00109. C1. 2 hits.
SM00045. DAGKa. 1 hit.
SM00046. DAGKc. 1 hit.
[Graphical view]
SUPFAMSSF111331. SSF111331. 1 hit.
PROSITEPS50146. DAGK. 1 hit.
PS00479. ZF_DAG_PE_1. 2 hits.
PS50081. ZF_DAG_PE_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi8526.
NextBio31924.
PROP52429.
SOURCESearch...

Entry information

Entry nameDGKE_HUMAN
AccessionPrimary (citable) accession number: P52429
Secondary accession number(s): Q9UKQ3
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 9, 2014
This is version 125 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM