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DGKK Gene

protein-coding   GIFtS: 50
GCID: GC0XM050128

Diacylglycerol Kinase, Kappa

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Diacylglycerol Kinase, Kappa1 2     DAG Kinase Kappa2 3
Diglyceride Kinase Kappa2 3     EC 2.7.1.1073 8
142 KDa Diacylglycerol Kinase2 3     Diacylglycerol Kinase Kappa2
DGK-kappa2 3     

External Ids:    HGNC: 323951   Entrez Gene: 1391892   Ensembl: ENSG000002044667   OMIM: 3008375   UniProtKB: Q5KSL63   

Export aliases for DGKK gene to outside databases

Previous GC identifers: GC0XM049944 GC0XM047555


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DGKK Gene:
The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic
acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene
have been associated with hypospadias. (provided by RefSeq, Mar 2011)

GeneCards Summary for DGKK Gene:
DGKK (diacylglycerol kinase, kappa) is a protein-coding gene. Diseases associated with DGKK include hypospadias. GO annotations related to this gene include diacylglycerol kinase activity and phospholipid binding.

UniProtKB/Swiss-Prot: DGKK_HUMAN, Q5KSL6
Function: Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA)

summary for DGKK Gene:
Diacylglycerol kinases (DGKs) are a group of ten enzymes (DGKalpha, DGKbeta, DGKgamma, DGKdelta, DGKepsilon,
DGKzeta, DGKeta, DGKtheta, DGKiota and DGKkappa) that metabolize 1,2,diacylglycerol (DAG) to produce
phosphatidic acid (PA). They all contain a conserved C'-terminal catalytic domain, two cysteine-rich
Zn2+-finger motifs that bind DAG and an ATP-binding site, whilst the regulatory domain varies. DGKs are
widely distributed throughout mammalian tissues and different isozymes have different subcellular
localizations; some are cytosolic (for example DGKalpha), some are membrane-bound (for example DGKgamma is
associated with the Golgi membrane) and some are nuclear (for example DGKzeta. DGKs have diverse biological
roles as they participate in signal transduction by modulating levels of DAG in a variety of cellular
responses to extracellular stimuli.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NC_018934.2  NT_011630.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the DGKK gene promoter:
         Nkx3-1   Nkx3-1 v4   Nkx3-1 v1   Evi-1   GATA-1   Nkx3-1 v2   Nkx3-1 v3   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDGKK promoter sequence
   Search Chromatin IP Primers for DGKK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DGKK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp11.22   Ensembl cytogenetic band:  Xp11.22   HGNC cytogenetic band: Xp11.22

DGKK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DGKK gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM050128:  view genomic region     (about GC identifiers)

Start:
50,108,408 bp from pter      End:
50,213,737 bp from pter
Size:
105,330 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DGKK_HUMAN, Q5KSL6 (See protein sequence)
Recommended Name: Diacylglycerol kinase kappa  
Size: 1271 amino acids; 141829 Da
Subunit: Does not form homooligomers
Secondary accessions: B2RP91

Explore the universe of human proteins at neXtProt for DGKK: NX_Q5KSL6

Explore proteomics data for DGKK at MOPED

Post-translational modifications: 

  • Phosphorylated at Tyr-78 by some member of the SRC family in response to H(2)O(2)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DGKK (Q5KSL6) (see all 5)
     QVDGEAW  HHRIAQC  PVQVDGE  PLGTGNDL 


    See DGKK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001013764.1  Reactome Protein details: Q5KSL6

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR001206 Diacylglycerol_kinase_cat_dom
     IPR001849 Pleckstrin_homology
     IPR000756 Diacylglycerol_kin_accessory
     IPR011993 PH_like_dom
     IPR002219 Prot_Kinase_C-like_PE/DAG-bd

    Graphical View of Domain Structure for InterPro Entry Q5KSL6

    ProtoNet protein and cluster: Q5KSL6

    1 Blocks protein domain: IPB000756 Diacylglycerol kinase accessory domain (presumed)

    UniProtKB/Swiss-Prot: DGKK_HUMAN, Q5KSL6
    Similarity: Belongs to the eukaryotic diacylglycerol kinase family
    Similarity: Contains 1 DAGKc domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 2 phorbol-ester/DAG-type zinc fingers


    DGKK for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DGKK_HUMAN, Q5KSL6
    Function: Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA)
    Catalytic activity: ATP + 1,2-diacyl-sn-glycerol = ADP + 1,2-diacyl-sn-glycerol 3-phosphate
    Enzyme regulation: Inhibited in response to H(2)O(2)

         Enzyme Number (IUBMB): EC 2.7.1.1071 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003951NAD+ kinase activity IEA--
    GO:0004143diacylglycerol kinase activity IDA16210324
    GO:0005524ATP binding IEA--
    GO:0046872metal ion binding IEA--
         
    DGKK for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DGKK
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DGKK_HUMAN, Q5KSL6: Cytoplasm. Membrane; Peripheral membrane protein

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--

    DGKK for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DGKK About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    3Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    4Effects of PIP2 hydrolysis
    Effects of PIP2 hydrolysis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for DGKK
        Effects of PIP2 hydrolysis



    DGKK for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DGKK
    Interactions:

        Search GeneGlobe Interaction Network for DGKK

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006979response to oxidative stress IDA16210324
    GO:0007205protein kinase C-activating G-protein coupled receptor signaling pathway IEA--
    GO:0007596blood coagulation TAS--
    GO:0030168platelet activation TAS--
    GO:0035556intracellular signal transduction IDA16210324

    DGKK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for DGKK available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DioctanoylglycolDiacylglycerol kinase inhibitor[627-86-1]

    Selected HMDB Compounds for DGKK (see all 855)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(16:0e/18:0/0:0)2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)--12486725
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DGKK gene: 
    NM_001013742.3  

    Unigene Cluster for DGKK:

    Diacylglycerol kinase, kappa
    Hs.631770  [show with all ESTs]
    Unigene Representative Sequence: NM_001013742
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376025(processed_transcript) ENST00000546288(processed_transcript)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat DGKK

    Additional mRNA sequence: 

    AB183864.1 BC137319.1 BC137320.1 

    1 DOTS entry:

    DT.99968229 

    1 AceView cDNA sequence:

    BQ924103 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DGKK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATAAGGAGT
    DGKK Expression
    About this image


    DGKK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Stem Cell line 5
     
     NULL (Uncategorized)
             Mesoderm-like cells
    DGKK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DGKK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631770

    UniProtKB/Swiss-Prot: DGKK_HUMAN, Q5KSL6
    Tissue specificity: Expressed in testis, and to a lesser extent in placenta

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for DGKK gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dgkk1 , 5 diacylglycerol kinase kappa1, 5 81.82(n)1
    77.64(a)1
      X (3.07 cM)5
    3313741  NM_177914.31  NP_808582.31 
     68734845 


    ENSEMBL Gene Tree for DGKK (if available)
    TreeFam Gene Tree for DGKK (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DGKK gene
    2 SIMAP similar genes for DGKK using alignment to 2 protein entries:     DGKK_HUMAN (see all proteins):
    DGKH    DGKD

    DGKK for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DGKK (see all 1300)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs358303021,2
    C--50121146(+) GATAAG/-GCCTG 2 /L /PY fra11Minor allele frequency- -:0.00CSA 2
    rs114155941,2
    C--50121147(+) ATAAG-/GCCTGG 4 L P fra10--------
    rs1853105811,2
    --50123236(+) AGTGGA/GCAAGC 1 -- ds50010--------
    rs1901915001,2
    --50123296(+) GAAGGA/TGCAAG 1 -- ds50010--------
    rs1820654001,2
    --50123330(+) AGACAC/TACAAC 1 -- ds50010--------
    rs1464094471,2
    C--50123710(+) ATTTAA/GTCTAG 1 -- ds50010--------
    rs2002859271,2
    C--50123784(+) TCAAGC/GGCTAC 1 -- ut310--------
    rs1408087941,2
    C--50123884(+) AAAATG/TGTATA 1 -- int10--------
    rs1837441831,2
    --50123974(+) CTGGTC/TTGTTC 1 -- int10--------
    rs1446390591,2
    --50124091(+) ATTGAC/GTCTGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for DGKK (50108408 - 50213737 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DGKK:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508771CNV Insertion20534489
    nsv523598CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300837    OMIM disorders: --

    1 disease for DGKK:    
    About MalaCards
    hypospadias


    DGKK for disorders           About GeneDecksing

    Genetic Association Database (GAD): DGKK
    Human Genome Epidemiology (HuGE) Navigator: DGKK (1 document)

    Export disorders for DGKK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DGKK gene integrated from 10 sources:
    (articles sorted by number of sources associating them with DGKK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel human type II diacylglycerol kinase, DGK kappa. (PubMed id 16210324)1, 2, 3 Imai S.... Sakane F. (J. Biol. Chem. 2005)
    2. Common variants in DGKK are strongly associated with risk of hypospadias. (PubMed id 21113153)1, 4 van der Zanden L.F....Knoers N.V. (Nat. Genet. 2011)
    3. Diacylglycerol kinase K variants impact hypospadias in a California study population. (PubMed id 23177175)1 Carmichael S.L....Lammer E.J. (J. Urol. 2013)
    4. Aetiology of hypospadias: a systematic review of genes and environment. (PubMed id 22371315)1 van der Zanden L.F....Roeleveld N. (Hum. Reprod. Update 2012)
    5. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Insights into the bile acid transportation system: the human ileal lipid-binding protein-cholyltaurine complex and its comparison with homologous structures. (PubMed id 12486725)6 Kurz M....Kramer W. (Proteins 2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 139189 HGNC: 32395 AceView: LOC139189 Ensembl:ENSG00000204466 euGenes: HUgn139189
    ECgene: DGKK H-InvDB: DGKK

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DGKK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DGKK gene:
    Search GeneIP for patents involving DGKK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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