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P52429

- DGKE_HUMAN

UniProt

P52429 - DGKE_HUMAN

Protein

Diacylglycerol kinase epsilon

Gene

DGKE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 Oct 1996)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiP52429.
    BgeeiP52429.
    CleanExiHS_DGKE.
    GenevestigatoriP52429.

    Organism-specific databases

    HPAiHPA017167.

    Interactioni

    Protein-protein interaction databases

    BioGridi114096. 9 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.
    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. Prot_Kinase_C-like_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]

    Sequencei

    Sequence statusi: Complete.

    P52429-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEAERRPAPG SPSEGLFADG HLILWTLCSV LLPVFITFWC SLQRSRRQLH    50
    RRDIFRKSKH GWRDTDLFSQ PTYCCVCAQH ILQGAFCDCC GLRVDEGCLR 100
    KADKRFQCKE IMLKNDTKVL DAMPHHWIRG NVPLCSYCMV CKQQCGCQPK 150
    LCDYRCIWCQ KTVHDECMKN SLKNEKCDFG EFKNLIIPPS YLTSINQMRK 200
    DKKTDYEVLA SKLGKQWTPL IILANSRSGT NMGEGLLGEF RILLNPVQVF 250
    DVTKTPPIKA LQLCTLLPYY SARVLVCGGD GTVGWVLDAV DDMKIKGQEK 300
    YIPQVAVLPL GTGNDLSNTL GWGTGYAGEI PVAQVLRNVM EADGIKLDRW 350
    KVQVTNKGYY NLRKPKEFTM NNYFSVGPDA LMALNFHAHR EKAPSLFSSR 400
    ILNKAVYLFY GTKDCLVQEC KDLNKKVELE LDGERVALPS LEGIIVLNIG 450
    YWGGGCRLWE GMGDETYPLA RHDDGLLEVV GVYGSFHCAQ IQVKLANPFR 500
    IGQAHTVRLI LKCSMMPMQV DGEPWAQGPC TVTITHKTHA MMLYFSGEQT 550
    DDDISSTSDQ EDIKATE 567
    Length:567
    Mass (Da):63,927
    Last modified:October 1, 1996 - v1
    Checksum:iBC334AD15FB4D0B4
    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

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U49379 mRNA. Translation: AAC50497.1.
    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

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U49379 mRNA. Translation: AAC50497.1 .
    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. 9 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.
    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

    ArrayExpressi P52429.
    Bgeei P52429.
    CleanExi HS_DGKE.
    Genevestigatori P52429.

    Family and domain databases

    InterProi IPR016064. ATP-NAD_kinase_PpnK-typ.
    IPR000756. Diacylglycerol_kin_accessory.
    IPR001206. Diacylglycerol_kinase_cat_dom.
    IPR002219. Prot_Kinase_C-like_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

    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. Cited for: INVOLVEMENT IN NPHS7.
    4. Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANTS AHUS7 PRO-63 AND PRO-273.
    5. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-99.

    Entry informationi

    Entry nameiDGKE_HUMAN
    AccessioniPrimary (citable) accession number: P52429
    Secondary accession number(s): Q9UKQ3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1996
    Last sequence update: October 1, 1996
    Last modified: October 1, 2014
    This is version 127 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