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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

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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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