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P52429

- DGKE_HUMAN

UniProt

P52429 - DGKE_HUMAN

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Protein

Diacylglycerol kinase epsilon

Gene

DGKE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri59 – 10850Phorbol-ester/DAG-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri124 – 17754Phorbol-ester/DAG-type 2PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. ATP binding Source: ProtInc
  2. diacylglycerol kinase activity Source: ProtInc
  3. metal ion binding Source: UniProtKB-KW
  4. NAD+ kinase activity Source: InterPro

GO - Biological processi

  1. blood coagulation Source: Reactome
  2. intracellular signal transduction Source: InterPro
  3. phospholipid biosynthetic process Source: ProtInc
  4. platelet activation Source: Reactome
  5. protein kinase C-activating G-protein coupled receptor signaling pathway Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Transferase

Keywords - Ligandi

ATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_2202. Effects of PIP2 hydrolysis.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:2852. DGKE.

Subcellular locationi

Membrane Curated; Multi-pass membrane protein Curated. Membrane 1 Publication. Cytoplasm 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
  3. membrane Source: UniProtKB
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631R → P in AHUS7. 1 Publication
Corresponds to variant rs312262694 [ dbSNP | Ensembl ].
VAR_069804
Natural varianti273 – 2731R → P in AHUS7. 1 Publication
Corresponds to variant rs312262695 [ dbSNP | Ensembl ].
VAR_069805

Keywords - Diseasei

Disease mutation, Hemolytic uremic syndrome

Organism-specific databases

MIMi615008. phenotype.
Orphaneti357008. Atypical hemolytic-uremic syndrome with DGKE deficiency.
329903. Immunoglobulin-mediated membranoproliferative glomerulonephritis.
PharmGKBiPA27313.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 567567Diacylglycerol kinase epsilonPRO_0000218464Add
BLAST

Proteomic databases

MaxQBiP52429.
PaxDbiP52429.
PRIDEiP52429.

PTM databases

PhosphoSiteiP52429.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP52429.
CleanExiHS_DGKE.
ExpressionAtlasiP52429. baseline and differential.
GenevestigatoriP52429.

Organism-specific databases

HPAiHPA017167.

Interactioni

Protein-protein interaction databases

BioGridi114096. 10 interactions.
IntActiP52429. 3 interactions.
STRINGi9606.ENSP00000284061.

Structurei

3D structure databases

ProteinModelPortaliP52429.
SMRiP52429. Positions 122-172.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei22 – 4221HelicalSequence AnalysisAdd
BLAST
Transmembranei436 – 45621HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini215 – 356142DAGKcPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 DAGKc domain.PROSITE-ProRule annotation
Contains 2 phorbol-ester/DAG-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri59 – 10850Phorbol-ester/DAG-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri124 – 17754Phorbol-ester/DAG-type 2PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

eggNOGiNOG47311.
GeneTreeiENSGT00760000119050.
HOGENOMiHOG000220913.
HOVERGENiHBG051347.
InParanoidiP52429.
KOiK00901.
OMAiCMKTSLK.
OrthoDBiEOG71VSS6.
PhylomeDBiP52429.
TreeFamiTF313104.

Family and domain databases

InterProiIPR016064. ATP-NAD_kinase_PpnK-typ.
IPR000756. Diacylglycerol_kin_accessory.
IPR001206. Diacylglycerol_kinase_cat_dom.
IPR002219. PE/DAG-bd.
[Graphical view]
PfamiPF00130. C1_1. 2 hits.
PF00609. DAGK_acc. 1 hit.
PF00781. DAGK_cat. 1 hit.
[Graphical view]
SMARTiSM00109. C1. 2 hits.
SM00045. DAGKa. 1 hit.
SM00046. DAGKc. 1 hit.
[Graphical view]
SUPFAMiSSF111331. SSF111331. 1 hit.
PROSITEiPS50146. DAGK. 1 hit.
PS00479. ZF_DAG_PE_1. 2 hits.
PS50081. ZF_DAG_PE_2. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti63 – 631R → P in AHUS7. 1 Publication
Corresponds to variant rs312262694 [ dbSNP | Ensembl ].
VAR_069804
Natural varianti99 – 991L → R in a breast cancer sample; somatic mutation. 1 Publication
VAR_036120
Natural varianti273 – 2731R → P in AHUS7. 1 Publication
Corresponds to variant rs312262695 [ dbSNP | Ensembl ].
VAR_069805

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei156 – 17722CIWCQ…KNEKC → YGLRGHSLSQNAPWESGFHR VV in isoform 2. 1 PublicationVSP_056957Add
BLAST
Alternative sequencei178 – 567390Missing in isoform 2. 1 PublicationVSP_056958Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
RefSeqiNP_003638.1. NM_003647.2.
UniGeneiHs.239514.

Genome annotation databases

EnsembliENST00000284061; ENSP00000284061; ENSG00000153933.
GeneIDi8526.
KEGGihsa:8526.
UCSCiuc002iur.3. human.

Polymorphism databases

DMDMi1708625.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS11590.1.
RefSeqi NP_003638.1. NM_003647.2.
UniGenei Hs.239514.

3D structure databases

ProteinModelPortali P52429.
SMRi P52429. Positions 122-172.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114096. 10 interactions.
IntActi P52429. 3 interactions.
STRINGi 9606.ENSP00000284061.

Chemistry

ChEMBLi CHEMBL1075187.

PTM databases

PhosphoSitei P52429.

Polymorphism databases

DMDMi 1708625.

Proteomic databases

MaxQBi P52429.
PaxDbi P52429.
PRIDEi P52429.

Protocols and materials databases

DNASUi 8526.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000284061 ; ENSP00000284061 ; ENSG00000153933 .
GeneIDi 8526.
KEGGi hsa:8526.
UCSCi uc002iur.3. human.

Organism-specific databases

CTDi 8526.
GeneCardsi GC17P054911.
GeneReviewsi DGKE.
HGNCi HGNC:2852. DGKE.
HPAi HPA017167.
MIMi 601440. gene.
615008. phenotype.
neXtProti NX_P52429.
Orphaneti 357008. Atypical hemolytic-uremic syndrome with DGKE deficiency.
329903. Immunoglobulin-mediated membranoproliferative glomerulonephritis.
PharmGKBi PA27313.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG47311.
GeneTreei ENSGT00760000119050.
HOGENOMi HOG000220913.
HOVERGENi HBG051347.
InParanoidi P52429.
KOi K00901.
OMAi CMKTSLK.
OrthoDBi EOG71VSS6.
PhylomeDBi P52429.
TreeFami TF313104.

Enzyme and pathway databases

Reactomei REACT_2202. Effects of PIP2 hydrolysis.

Miscellaneous databases

GenomeRNAii 8526.
NextBioi 31924.
PROi P52429.
SOURCEi Search...

Gene expression databases

Bgeei P52429.
CleanExi HS_DGKE.
ExpressionAtlasi P52429. baseline and differential.
Genevestigatori P52429.

Family and domain databases

InterProi IPR016064. ATP-NAD_kinase_PpnK-typ.
IPR000756. Diacylglycerol_kin_accessory.
IPR001206. Diacylglycerol_kinase_cat_dom.
IPR002219. PE/DAG-bd.
[Graphical view ]
Pfami PF00130. C1_1. 2 hits.
PF00609. DAGK_acc. 1 hit.
PF00781. DAGK_cat. 1 hit.
[Graphical view ]
SMARTi SM00109. C1. 2 hits.
SM00045. DAGKa. 1 hit.
SM00046. DAGKc. 1 hit.
[Graphical view ]
SUPFAMi SSF111331. SSF111331. 1 hit.
PROSITEi PS50146. DAGK. 1 hit.
PS00479. ZF_DAG_PE_1. 2 hits.
PS50081. ZF_DAG_PE_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] (ISOFORM 1).
    Tissue: Umbilical vein endothelial cell.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Prostate.
  4. "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.
  5. Cited for: INVOLVEMENT IN NPHS7.
  6. Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANTS AHUS7 PRO-63 AND PRO-273.
  7. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-99.

Entry informationi

Entry nameiDGKE_HUMAN
AccessioniPrimary (citable) accession number: P52429
Secondary accession number(s): Q8TBM4, Q9UKQ3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: October 29, 2014
This is version 128 of the entry and version 1 of the sequence. [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

External Data

Dasty 3