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    DGKE diacylglycerol kinase epsilon [ Homo sapiens (human) ]

    Gene ID: 8526, updated on 11-Apr-2024

    Summary

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    Official Symbol
    DGKEprovided by HGNC
    Official Full Name
    diacylglycerol kinase epsilonprovided by HGNC
    Primary source
    HGNC:HGNC:2852
    See related
    Ensembl:ENSG00000153933 MIM:601440; AllianceGenome:HGNC:2852
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DGK; AHUS7; DAGK5; DAGK6; NPHS7
    Summary
    Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 3.8), spleen (RPKM 3.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (56834151..56869567)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (57711341..57746838)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (54911512..54946928)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak2904 silencer Neighboring gene noggin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54715538-54716038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54716039-54716539 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:54776085-54777284 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8739 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:54863850-54865049 Neighboring gene chromosome 17 open reading frame 67 Neighboring gene Sharpr-MPRA regulatory region 13836 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:54911171-54911768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:54912368-54912965 Neighboring gene uncharacterized LOC124904036 Neighboring gene NANOG hESC enhancer GRCh37_chr17:54914856-54915411 Neighboring gene uncharacterized LOC124904037 Neighboring gene RNA, U6 small nuclear 1158, pseudogene Neighboring gene mouse mammary tumor virus receptor homolog 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Various phenotypes of disease associated with mutated DGKE gene. Bezdíčka M, et al. Eur J Med Genet, 2020 Aug. PMID 32413569
    2. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε. Azukaitis K, et al. J Am Soc Nephrol, 2017 Oct. PMID 28526779, Free PMC Article
    3. Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations. Miyata T, et al. Thromb Haemost, 2015 Oct. PMID 26018111
    4. Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. Mele C, et al. Clin J Am Soc Nephrol, 2015 Jun 5. PMID 25854283, Free PMC Article
    5. Loss of DGKε induces endothelial cell activation and death independently of complement activation. Bruneau S, et al. Blood, 2015 Feb 5. PMID 25498910

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Diacylglycerol kinase-epsilon is S-palmitoylated on cysteine in the cytoplasmic end of its N-terminal transmembrane fragment.
      Title: Diacylglycerol kinase-ε is S-palmitoylated on cysteine in the cytoplasmic end of its N-terminal transmembrane fragment.
    2. An intact zinc finger motif of the C1B domain is critical for stability and activity of diacylglycerol kinase-epsilon.
      Title: An intact zinc finger motif of the C1B domain is critical for stability and activity of diacylglycerol kinase-ε.
    3. Loss of diacylglycerol kinase epsilon causes thrombotic microangiopathy by impairing endothelial VEGFA signaling.
      Title: Loss of diacylglycerol kinase ε causes thrombotic microangiopathy by impairing endothelial VEGFA signaling.
    4. Various phenotypes of disease associated with mutated DGKE gene.
      Title: Various phenotypes of disease associated with mutated DGKE gene.
    5. mutations can lead to atypical hemolytic uremic syndrome or membranoproliferative glomerulonephritis
      Title: The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.
    6. Letter/Case Report: atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.
      Title: Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.
    7. Report DGKE intronic mutations located beyond the exon-intron boundaries in familial hemolytic uremic syndrome.
      Title: Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
    8. Data suggest that complement dysregulation influences the onset and disease severity in carriers of diacylglycerol kinase-epsilon mutations
      Title: Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.
    9. DGKE silencing in resting endothelial cells does not affect complement activation at their surface.
      Title: Loss of DGKε induces endothelial cell activation and death independently of complement activation.
    10. Our study expands the clinical phenotypes associated with mutations in DGKE and challenges the benefits of complement blockade treatment in such patients
      Title: Phenotypic expansion of DGKE-associated diseases.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP-dependent diacylglycerol kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP-dependent diacylglycerol kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ATP-dependent diacylglycerol kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in diacylglycerol metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lipid phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphatidic acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phosphatidylinositol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in platelet activation TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein kinase C-activating G protein-coupled receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    diacylglycerol kinase epsilon
    Names
    DAG kinase epsilon
    DGK-epsilon
    diacylglycerol kinase, epsilon 64kDa
    diglyceride kinase epsilon
    NP_003638.1
    XP_011523696.1
    XP_011523697.1
    XP_011523698.1
    XP_016880732.1
    XP_016880733.1
    XP_047292915.1
    XP_047292916.1
    XP_054173580.1
    XP_054173581.1
    XP_054173582.1
    XP_054173583.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033888.1 RefSeqGene

      Range
      5053..40469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003647.3 → NP_003638.1  diacylglycerol kinase epsilon

      See identical proteins and their annotated locations for NP_003638.1

      Status: REVIEWED

      Source sequence(s)
      AC015912, AL555194, BC130629, BM682264, DB221284
      Consensus CDS
      CCDS11590.1
      UniProtKB/Swiss-Prot
      P52429, Q8TBM4, Q9UKQ3
      UniProtKB/TrEMBL
      A1L4Q0
      Related
      ENSP00000284061.3, ENST00000284061.8
      Conserved Domains (4) summary
      smart00109
      Location:125 → 174
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00045
      Location:369 → 524
      DAGKa; Diacylglycerol kinase accessory domain (presumed)
      smart00046
      Location:221 → 349
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
      pfam00130
      Location:60 → 109
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      56834151..56869567
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436959.1 → XP_047292915.1  diacylglycerol kinase epsilon isoform X1

    2. XM_011525394.4 → XP_011523696.1  diacylglycerol kinase epsilon isoform X3

      Conserved Domains (4) summary
      smart00109
      Location:143 → 192
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00045
      Location:387 → 542
      DAGKa; Diacylglycerol kinase accessory domain (presumed)
      smart00046
      Location:239 → 367
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
      pfam00130
      Location:78 → 127
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

    3. XM_017025244.3 → XP_016880733.1  diacylglycerol kinase epsilon isoform X4

    4. XM_017025243.3 → XP_016880732.1  diacylglycerol kinase epsilon isoform X2

    5. XM_011525395.3 → XP_011523697.1  diacylglycerol kinase epsilon isoform X5

      UniProtKB/TrEMBL
      Q59FU4
      Related
      ENSP00000458493.1, ENST00000572944.1
      Conserved Domains (4) summary
      smart00109
      Location:143 → 192
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00046
      Location:239 → 367
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
      pfam00130
      Location:78 → 127
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      cl02440
      Location:387 → 526
      DAGK_acc; Diacylglycerol kinase accessory domain

    6. XM_011525396.3 → XP_011523698.1  diacylglycerol kinase epsilon isoform X7

      UniProtKB/TrEMBL
      Q59FU4
      Conserved Domains (4) summary
      smart00109
      Location:143 → 192
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00046
      Location:239 → 367
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
      pfam00130
      Location:78 → 127
      C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
      cl02440
      Location:387 → 446
      DAGK_acc; Diacylglycerol kinase accessory domain

    7. XM_047436960.1 → XP_047292916.1  diacylglycerol kinase epsilon isoform X6

    RNA

    1. XR_002958079.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      57711341..57746838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317608.1 → XP_054173583.1  diacylglycerol kinase epsilon isoform X7

    2. XM_054317607.1 → XP_054173582.1  diacylglycerol kinase epsilon isoform X8

    3. XM_054317606.1 → XP_054173581.1  diacylglycerol kinase epsilon isoform X4

    4. XM_054317605.1 → XP_054173580.1  diacylglycerol kinase epsilon isoform X3

    RNA

    1. XR_008484958.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52429.1 GenPept UniProtKB/Swiss-Prot:P52429

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