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UniProtKB - P52429 (DGKE_HUMAN)

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Protein

Diacylglycerol kinase epsilon

Gene

DGKE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 activityi

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri59 – 108Phorbol-ester/DAG-type 1PROSITE-ProRule annotationAdd BLAST50
Zinc fingeri124 – 177Phorbol-ester/DAG-type 2PROSITE-ProRule annotationAdd BLAST54

GO - Molecular functioni

  • ATP binding Source: ProtInc
  • diacylglycerol kinase activity Source: BHF-UCL
  • kinase activity Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW
  • NAD+ kinase activity Source: InterPro
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionKinase, Transferase
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

BRENDAi2.7.1.107 2681
ReactomeiR-HSA-114508 Effects of PIP2 hydrolysis

Chemistry databases

SwissLipidsiSLP:000000546

Names & Taxonomyi

Protein namesi
Recommended name:
Diacylglycerol kinase epsilon (EC:2.7.1.107)
Short name:
DAG kinase epsilon
Alternative name(s):
Diglyceride kinase epsilon
Short name:
DGK-epsilon
Gene namesi
Name:DGKE
Synonyms:DAGK5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000153933.9
HGNCiHGNC:2852 DGKE
MIMi601440 gene
neXtProtiNX_P52429

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
Transmembranei436 – 456HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Nephrotic syndrome 7 (NPHS7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615008
Hemolytic uremic syndrome atypical 7 (AHUS7)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:615008
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06980463R → P in AHUS7. 1 PublicationCorresponds to variant dbSNP:rs312262694EnsemblClinVar.1
Natural variantiVAR_069805273R → P in AHUS7. 1 PublicationCorresponds to variant dbSNP:rs312262695EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hemolytic uremic syndrome

Organism-specific databases

DisGeNETi8526
GeneReviewsiDGKE
MalaCardsiDGKE
MIMi615008 phenotype
OpenTargetsiENSG00000153933
Orphaneti357008 Atypical hemolytic-uremic syndrome with DGKE deficiency
329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis
PharmGKBiPA27313

Chemistry databases

ChEMBLiCHEMBL1075187

Polymorphism and mutation databases

BioMutaiDGKE
DMDMi1708625

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002184641 – 567Diacylglycerol kinase epsilonAdd BLAST567

Proteomic databases

EPDiP52429
MaxQBiP52429
PaxDbiP52429
PeptideAtlasiP52429
PRIDEiP52429
ProteomicsDBi56484

PTM databases

iPTMnetiP52429
PhosphoSitePlusiP52429
SwissPalmiP52429

Expressioni

Tissue specificityi

Expressed predominantly in testis. Expressed in endothelium, platelets and podocytes (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000153933
CleanExiHS_DGKE
ExpressionAtlasiP52429 baseline and differential
GenevisibleiP52429 HS

Organism-specific databases

HPAiHPA017167

Interactioni

Protein-protein interaction databases

BioGridi114096, 16 interactors
IntActiP52429, 12 interactors
STRINGi9606.ENSP00000284061

Structurei

3D structure databases

ProteinModelPortaliP52429
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini215 – 356DAGKcPROSITE-ProRule annotationAdd BLAST142

Sequence similaritiesi

Belongs to the eukaryotic diacylglycerol kinase family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri59 – 108Phorbol-ester/DAG-type 1PROSITE-ProRule annotationAdd BLAST50
Zinc fingeri124 – 177Phorbol-ester/DAG-type 2PROSITE-ProRule annotationAdd BLAST54

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

eggNOGiKOG1169 Eukaryota
ENOG410XQVB LUCA
GeneTreeiENSGT00760000119050
HOGENOMiHOG000220913
HOVERGENiHBG051347
InParanoidiP52429
KOiK00901
OMAiAHTVRLI
OrthoDBiEOG091G096N
PhylomeDBiP52429
TreeFamiTF313104

Family and domain databases

CDDicd00029 C1, 2 hits
Gene3Di3.40.50.10330, 1 hit
InterProiView protein in InterPro
IPR017438 ATP-NAD_kinase_N
IPR037607 DGK
IPR000756 Diacylglycerol_kin_accessory
IPR001206 Diacylglycerol_kinase_cat_dom
IPR016064 NAD/diacylglycerol_kinase_sf
IPR002219 PE/DAG-bd
PANTHERiPTHR11255 PTHR11255, 1 hit
PfamiView protein in Pfam
PF00130 C1_1, 1 hit
PF00609 DAGK_acc, 1 hit
PF00781 DAGK_cat, 1 hit
SMARTiView protein in SMART
SM00109 C1, 2 hits
SM00045 DAGKa, 1 hit
SM00046 DAGKc, 1 hit
SUPFAMiSSF111331 SSF111331, 1 hit
PROSITEiView protein in PROSITE
PS50146 DAGK, 1 hit
PS00479 ZF_DAG_PE_1, 2 hits
PS50081 ZF_DAG_PE_2, 2 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P52429-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MEAERRPAPG SPSEGLFADG HLILWTLCSV LLPVFITFWC SLQRSRRQLH 
        60         70         80         90        100
RRDIFRKSKH GWRDTDLFSQ PTYCCVCAQH ILQGAFCDCC GLRVDEGCLR 
       110        120        130        140        150
KADKRFQCKE IMLKNDTKVL DAMPHHWIRG NVPLCSYCMV CKQQCGCQPK 
       160        170        180        190        200
LCDYRCIWCQ KTVHDECMKN SLKNEKCDFG EFKNLIIPPS YLTSINQMRK 
       210        220        230        240        250
DKKTDYEVLA SKLGKQWTPL IILANSRSGT NMGEGLLGEF RILLNPVQVF 
       260        270        280        290        300
DVTKTPPIKA LQLCTLLPYY SARVLVCGGD GTVGWVLDAV DDMKIKGQEK 
       310        320        330        340        350
YIPQVAVLPL GTGNDLSNTL GWGTGYAGEI PVAQVLRNVM EADGIKLDRW 
       360        370        380        390        400
KVQVTNKGYY NLRKPKEFTM NNYFSVGPDA LMALNFHAHR EKAPSLFSSR 
       410        420        430        440        450
ILNKAVYLFY GTKDCLVQEC KDLNKKVELE LDGERVALPS LEGIIVLNIG 
       460        470        480        490        500
YWGGGCRLWE GMGDETYPLA RHDDGLLEVV GVYGSFHCAQ IQVKLANPFR 
       510        520        530        540        550
IGQAHTVRLI LKCSMMPMQV DGEPWAQGPC TVTITHKTHA MMLYFSGEQT 
       560 
DDDISSTSDQ EDIKATE
Length:567
Mass (Da):63,927
Last modified:October 1, 1996 - v1
Checksum:iBC334AD15FB4D0B4
GO
Isoform 2 (identifier: P52429-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     156-177: CIWCQKTVHDECMKNSLKNEKC → YGLRGHSLSQNAPWESGFHRVV
     178-567: Missing.

Note: No experimental confirmation available.
Show »
Length:177
Mass (Da):20,452
Checksum:i185B610815D0859A
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06980463R → P in AHUS7. 1 PublicationCorresponds to variant dbSNP:rs312262694EnsemblClinVar.1
Natural variantiVAR_03612099L → R in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_069805273R → P in AHUS7. 1 PublicationCorresponds to variant dbSNP:rs312262695EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056957156 – 177CIWCQ…KNEKC → YGLRGHSLSQNAPWESGFHR VV in isoform 2. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_056958178 – 567Missing in isoform 2. 1 PublicationAdd BLAST390

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U49379 mRNA Translation: AAC50497.1
AC015912 Genomic DNA No translation available.
AC106858 Genomic DNA No translation available.
BC022297 mRNA Translation: AAH22297.1
AF136745 Genomic DNA Translation: AAD45666.1
CCDSiCCDS11590.1 [P52429-1]
RefSeqiNP_003638.1, NM_003647.2 [P52429-1]
UniGeneiHs.239514

Genome annotation databases

EnsembliENST00000284061; ENSP00000284061; ENSG00000153933 [P52429-1]
ENST00000572810; ENSP00000459295; ENSG00000153933 [P52429-2]
GeneIDi8526
KEGGihsa:8526
UCSCiuc002iur.4 human [P52429-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDGKE_HUMAN
AccessioniPrimary (citable) accession number: P52429
Secondary accession number(s): Q8TBM4, Q9UKQ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 18, 2018
This is version 164 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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