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] See more...

Aliases for DGKK Gene

Aliases for DGKK Gene

  • Diacylglycerol Kinase Kappa 2 3 4 5
  • 142 KDa Diacylglycerol Kinase 3 4
  • Diglyceride Kinase Kappa 3 4
  • DAG Kinase Kappa 3 4
  • EC 2.7.1.107 4 50
  • DGK-Kappa 3 4
  • DGKK 5

External Ids for DGKK Gene

Previous GeneCards Identifiers for DGKK Gene

  • GC0XM049944
  • GC0XM050128
  • GC0XM047555

Summaries for DGKK Gene

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 and Nephrotic Syndrome, Type 7. Among its related pathways are Signaling by GPCR and Effects of PIP2 hydrolysis. Gene Ontology (GO) annotations related to this gene include NAD+ kinase activity and diacylglycerol kinase activity. An important paralog of this gene is DGKH.

UniProtKB/Swiss-Prot Summary for DGKK Gene

  • Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:16210324, PubMed:23949095). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (Probable).

Tocris Summary for DGKK Gene

  • Diacylglycerol kinases (DGKs) are a group of ten enzymes that metabolize 1,2,diacylglycerol (DAG) to produce phosphatidic acid (PA). They all contain a conserved C'-terminal catalytic domain and two cysteine-rich Zn2+-finger motifs with varied regulatory domains.

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DGKK Gene

Genomics for DGKK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DGKK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ050470 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 -0.2 -150 1.6 KLF9 SP2 ZBTB48 TAF1 NRF1 ZNF652 SP3 ZSCAN4 L3MBTL2 EGR2 DGKK lnc-DGKK-1 HSALNG0137894 SHROOM4
GH0XJ050430 Enhancer 0.9 Ensembl ENCODE 0.3 +39.6 39593 2.1 ZMYM3 CEBPA CHD4 FOXA2 KDM6A SMAD4 RARA TEAD3 CREM FOXP1 piR-57135-149 DGKK lnc-DGKK-1 CCNB3
GH0XJ050462 Enhancer 0.5 Ensembl 0.4 +6.8 6750 4.2 NFE2 MCM5 ZNF366 ZNF680 ZNF512 PRDM1 DGKK lnc-DGKK-1 piR-57135-149 CCNB3
GH0XJ050456 Enhancer 0.4 Ensembl 0.4 +13.6 13550 1.4 ATF4 ATF3 CTCF CEBPG DGKK lnc-DGKK-1 piR-57135-149 CCNB3
GH0XJ050432 Enhancer 0.6 ENCODE 0.3 +37.7 37655 1.7 CHD4 SMAD4 RARA DRAP1 HMG20A NR2F6 SP1 ZNF644 NFIL3 TCF7 piR-57135-149 DGKK lnc-DGKK-1 CCNB3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DGKK on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DGKK

Top Transcription factor binding sites by QIAGEN in the DGKK gene promoter:
  • Cart-1
  • Evi-1
  • GATA-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for DGKK Gene

Latest Assembly
chrX:50,365,409-50,470,851
(GRCh38/hg38)
Size:
105,443 bases
Orientation:
Minus strand

Previous Assembly
chrX:50,108,408-50,213,824
(GRCh37/hg19 by Entrez Gene)
Size:
105,417 bases
Orientation:
Minus strand

Genomic View for DGKK Gene

Genes around DGKK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DGKK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DGKK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DGKK Gene

Proteins for DGKK Gene

  • Protein details for DGKK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5KSL6-DGKK_HUMAN
    Recommended name:
    Diacylglycerol kinase kappa
    Protein Accession:
    Q5KSL6
    Secondary Accessions:
    • B2RP91

    Protein attributes for DGKK Gene

    Size:
    1271 amino acids
    Molecular mass:
    141829 Da
    Quaternary structure:
    • Does not form homooligomers.

neXtProt entry for DGKK Gene

Selected DME Specific Peptides for DGKK Gene

Q5KSL6:
  • QVDGEAW
  • PLGTGNDL
  • EKCVMNNYFGIG
  • PVQVDGE
  • HHRIAQC

Post-translational modifications for DGKK Gene

  • Phosphorylated at Tyr-78 by some member of the SRC family in response to H(2)O(2).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DGKK Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DGKK Gene

Gene Families for DGKK Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for DGKK Gene

Suggested Antigen Peptide Sequences for DGKK Gene

GenScript: Design optimal peptide antigens:
  • Diglyceride kinase kappa (DGKK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5KSL6

UniProtKB/Swiss-Prot:

DGKK_HUMAN :
  • Belongs to the eukaryotic diacylglycerol kinase family.
Family:
  • Belongs to the eukaryotic diacylglycerol kinase family.
genes like me logo Genes that share domains with DGKK: view

Function for DGKK Gene

Molecular function for DGKK Gene

UniProtKB/Swiss-Prot Function:
Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:16210324, PubMed:23949095). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (Probable).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycerol + ATP = a 1,2-diacyl-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:10272, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:30616, ChEBI:CHEBI:58608, ChEBI:CHEBI:456216; EC=2.7.1.107; Evidence={ECO:0000269|PubMed:16210324, ECO:0000269|PubMed:23949095};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-di-(9Z-octadecenoyl)-sn-glycerol + ATP = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:40327, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:52333, ChEBI:CHEBI:74546, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:16210324, ECO:0000269|PubMed:23949095};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited in response to H(2)O(2).

Enzyme Numbers (IUBMB) for DGKK Gene

Phenotypes From GWAS Catalog for DGKK Gene

Gene Ontology (GO) - Molecular Function for DGKK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003951 NAD+ kinase activity IEA --
GO:0004143 diacylglycerol kinase activity IDA 16210324
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with DGKK: view
genes like me logo Genes that share phenotypes with DGKK: view

Animal Models for research

  • Taconic Biosciences Mouse Models for DGKK

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGKK

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DGKK Gene

Localization for DGKK Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGKK Gene

Cell membrane. Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DGKK gene
Compartment Confidence
plasma membrane 4
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DGKK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DGKK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DGKK Gene

Pathways & Interactions for DGKK Gene

genes like me logo Genes that share pathways with DGKK: view

UniProtKB/Swiss-Prot Q5KSL6-DGKK_HUMAN

  • Pathway: Lipid metabolism; glycerolipid metabolism.

Interacting Proteins for DGKK Gene

Gene Ontology (GO) - Biological Process for DGKK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006979 response to oxidative stress IDA 16210324
GO:0007165 signal transduction IEA --
GO:0007205 protein kinase C-activating G protein-coupled receptor signaling pathway IEA --
GO:0016310 phosphorylation IEA --
GO:0030168 platelet activation TAS --
genes like me logo Genes that share ontologies with DGKK: view

No data available for SIGNOR curated interactions for DGKK Gene

Drugs & Compounds for DGKK Gene

(3) Drugs for DGKK Gene - From: DrugBank and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
alpha-Tocopherol succinate Approved, Vet_approved Nutra Target 0
Dioctanoylglycol Pharma Diacylglycerol kinase inhibitor 0
R 59-022 Pharma Diacylglycerol kinase inhibitor; increases PKC activity 0

(17) Additional Compounds for DGKK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
DG(16:0/24:0/0:0)
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
257891-89-7
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
91125-76-7, 29541-66-0, 51621-26-2
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)

(2) Tocris Compounds for DGKK Gene

Compound Action Cas Number
Dioctanoylglycol Diacylglycerol kinase inhibitor 627-86-1
R 59-022 Diacylglycerol kinase inhibitor; increases PKC activity 93076-89-2
genes like me logo Genes that share compounds with DGKK: view

Transcripts for DGKK Gene

mRNA/cDNA for DGKK Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGKK

Alternative Splicing Database (ASD) splice patterns (SP) for DGKK Gene

No ASD Table

Relevant External Links for DGKK Gene

GeneLoc Exon Structure for
DGKK

Expression for DGKK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DGKK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DGKK Gene

This gene is overexpressed in Pituitary (x17.4), Brain - Nucleus accumbens (basal ganglia) (x16.3), Brain - Hypothalamus (x6.4), and Brain - Putamen (basal ganglia) (x4.4).

Protein differential expression in normal tissues from HIPED for DGKK Gene

This gene is overexpressed in Kidney (27.0), Pancreas (22.8), and Lung (16.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DGKK Gene



Protein tissue co-expression partners for DGKK Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DGKK

SOURCE GeneReport for Unigene cluster for DGKK Gene:

Hs.631770

mRNA Expression by UniProt/SwissProt for DGKK Gene:

Q5KSL6-DGKK_HUMAN
Tissue specificity: Expressed in testis, and to a lesser extent in placenta.
genes like me logo Genes that share expression patterns with DGKK: view

Primer products for research

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DGKK Gene

Orthologs for DGKK Gene

This gene was present in the common ancestor of chordates.

Orthologs for DGKK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DGKK 29
  • 99.65 (n)
Dog
(Canis familiaris)
Mammalia DGKK 29
  • 87.61 (n)
Cow
(Bos Taurus)
Mammalia DGKK 29
  • 86.39 (n)
Rat
(Rattus norvegicus)
Mammalia Dgkk 29
  • 83.65 (n)
Mouse
(Mus musculus)
Mammalia Dgkk 29 16
  • 81.82 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2361 29
Species where no ortholog for DGKK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for DGKK Gene

ENSEMBL:
Gene Tree for DGKK (if available)
TreeFam:
Gene Tree for DGKK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DGKK: view image
Alliance of Genome Resources:
Additional Orthologs for DGKK

Paralogs for DGKK Gene

Paralogs for DGKK Gene

(2) SIMAP similar genes for DGKK Gene using alignment to 2 proteins:

  • DGKK_HUMAN
  • L8EC67_HUMAN
genes like me logo Genes that share paralogs with DGKK: view

Variants for DGKK Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DGKK Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
871787 Uncertain Significance: not provided 50,470,306(-) G/T
NM_001013742.4(DGKK):c.373C>A (p.Pro125Thr)
MISSENSE
rs138086016 Benign: not provided 50,391,446(-) A/T
NM_001013742.4(DGKK):c.1835T>A (p.Ile612Asn)
MISSENSE
rs139988151 Benign: not provided 50,376,824(-) C/T
NM_001013742.4(DGKK):c.3206G>A (p.Ser1069Asn)
MISSENSE
rs144819611 Benign: not provided 50,382,602(-) G/A
NM_001013742.4(DGKK):c.2551C>T (p.Arg851Cys)
MISSENSE
rs181372233 Benign: not provided 50,470,430(-) T/C
NM_001013742.4(DGKK):c.249A>G (p.Pro83=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DGKK Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DGKK Gene

Variant ID Type Subtype PubMed ID
nsv1075728 CNV deletion 25765185
nsv1141063 CNV deletion 24896259
nsv508771 CNV insertion 20534489
nsv523598 CNV gain 19592680

Additional Variant Information for DGKK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DGKK
Leiden Open Variation Database (LOVD)
DGKK

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for DGKK Gene

Disorders for DGKK Gene

MalaCards: The human disease database

(4) MalaCards diseases for DGKK Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DGKK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DGKK

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DGKK: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DGKK Gene

Publications for DGKK Gene

  1. Identification and characterization of a novel human type II diacylglycerol kinase, DGK kappa. (PMID: 16210324) Imai S … Sakane F (The Journal of biological chemistry 2005) 2 3 4
  2. Common variants in DGKK are strongly associated with risk of hypospadias. (PMID: 21113153) van der Zanden LF … Knoers NV (Nature genetics 2011) 3 40
  3. The role of genetic variation in DGKK on moderate and severe hypospadias. (PMID: 31102501) Richard MA … Lupo PJ (Birth defects research 2019) 3
  4. Association between diacylglycerol kinase kappa variants and hypospadias susceptibility in a Han Chinese population. (PMID: 28597849) Xie H … Chen F (Asian journal of andrology 2018) 3
  5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3

Products for DGKK Gene

Sources for DGKK Gene