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Aliases for DGKH Gene

Aliases for DGKH Gene

  • Diacylglycerol Kinase Eta 2 3 5
  • Diglyceride Kinase Eta 3 4
  • DAG Kinase Eta 3 4
  • EC 2.7.1.107 4 61
  • DGK-Eta 4
  • DGKeta 3

External Ids for DGKH Gene

Previous GeneCards Identifiers for DGKH Gene

  • GC13U990039
  • GC13P041559
  • GC13P040420
  • GC13P041520
  • GC13P042622
  • GC13P023427

Summaries for DGKH Gene

Entrez Gene Summary for DGKH Gene

  • This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]

GeneCards Summary for DGKH Gene

DGKH (Diacylglycerol Kinase Eta) is a Protein Coding gene. Diseases associated with DGKH include Bipolar Disorder and Schizophrenia. Among its related pathways are Effects of PIP2 hydrolysis and RET signaling. GO annotations related to this gene include NAD+ kinase activity and diacylglycerol kinase activity. An important paralog of this gene is DGKD.

UniProtKB/Swiss-Prot for DGKH Gene

  • Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). Plays a key role in promoting cell growth. Activates the Ras/B-Raf/C-Raf/MEK/ERK signaling pathway induced by EGF. Regulates the recruitment of RAF1 and BRAF from cytoplasm to membranes and their heterodimerization.

Tocris Summary for DGKH 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 , fRNAdb sequence ontologies and piRNA Summary for DGKH Gene

Genomics for DGKH Gene

Regulatory Elements for DGKH Gene

Enhancers for DGKH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G041644 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -391.4 -391445 8.9 PKNOX1 FOXA2 ZFP64 ARID4B FEZF1 YY1 TCF12 GATA2 FOS SP5 RGCC VWA8 NAA16 OR7E37P OR7E155P RNU6-57P ENSG00000231530 DGKH GC13M041633 GC13M041702
GH13G041959 1.1 ENCODE 11.1 -78.5 -78512 4.6 HNRNPUL1 PKNOX1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 DGKH ENSG00000231530 RNU6-74P VWA8 AKAP11 GC13P041978
GH13G042105 1 Ensembl ENCODE 11.7 +66.1 66072 1.7 ZNF146 JUN INSM2 KLF17 CTBP1 ZNF366 FOS ZNF600 PRDM10 ZNF639 ENSG00000231530 DGKH RNU6-74P VWA8 GC13M042088 GC13M042182
GH13G042110 1 Ensembl ENCODE 11.6 +70.6 70565 0.8 CTCF ZNF384 RAD21 CTBP1 ZNF316 ZNF366 PATZ1 ZNF143 SMC3 RCOR1 ENSG00000231530 DGKH VWA8 GC13M042088 GC13M042182
GH13G041654 1 FANTOM5 Ensembl 10.6 -385.0 -385041 0.9 SOX13 FOXA2 CEBPG GATA3 CTBP1 ZNF366 U2AF2 SOX5 TEAD1 HLF ENSG00000231530 DGKH VWA8 RGCC NAA16 GC13M041633 GC13M041702
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DGKH on UCSC Golden Path with GeneCards custom track

Promoters for DGKH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000061886 764 2401 SIN3A FEZF1 ZNF2 ZNF48 GLIS2 ELK1 FOS REST SMARCA4 GLIS1

Genomic Location for DGKH Gene

Chromosome:
13
Start:
42,040,036 bp from pter
End:
42,256,584 bp from pter
Size:
216,549 bases
Orientation:
Plus strand

Genomic View for DGKH Gene

Genes around DGKH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DGKH Gene

Proteins for DGKH Gene

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

    Protein Symbol:
    Q86XP1-DGKH_HUMAN
    Recommended name:
    Diacylglycerol kinase eta
    Protein Accession:
    Q86XP1
    Secondary Accessions:
    • A2A2W7
    • A6NFX7
    • B4DZ34
    • Q5VZW0
    • Q6PI56
    • Q86XP2
    • Q8N3N0
    • Q8N7J9

    Protein attributes for DGKH Gene

    Size:
    1220 amino acids
    Molecular mass:
    134866 Da
    Quaternary structure:
    • Isoform 1 forms homooligomers through the SAM domain. Isoform 1 is also able to form heterooligomers with SAM domain-containing isoforms of DGKD. Oligomerization of isoform 1 inhibits its catalytic activity. Interacts with RAF1 and BRAF.
    SequenceCaution:
    • Sequence=BAC05280.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DGKH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DGKH Gene

Selected DME Specific Peptides for DGKH Gene

Q86XP1:
  • MWYGVLG
  • KNLEQRVQLECDGQ
  • EHPEKCRSR
  • QVDGEAW
  • PLGTGNDL
  • KVGHVKRILQ
  • KTCGSVLRLQDW
  • VFVNSKSG
  • MLDRWSI
  • RRDLKDLG
  • EKCVMNNYFGIG
  • PVQVDGE
  • LSGVTSHGLSCEVCK
  • HHRIAQC
  • GDGSVGWVLSEID
  • EGNLPVS

Post-translational modifications for DGKH Gene

Domains & Families for DGKH Gene

Suggested Antigen Peptide Sequences for DGKH Gene

Graphical View of Domain Structure for InterPro Entry

Q86XP1

UniProtKB/Swiss-Prot:

DGKH_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 DGKH: view

Function for DGKH Gene

Molecular function for DGKH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1,2-diacyl-sn-glycerol = ADP + 1,2-diacyl-sn-glycerol 3-phosphate.
UniProtKB/Swiss-Prot Function:
Phosphorylates diacylglycerol (DAG) to generate phosphatidic acid (PA). Plays a key role in promoting cell growth. Activates the Ras/B-Raf/C-Raf/MEK/ERK signaling pathway induced by EGF. Regulates the recruitment of RAF1 and BRAF from cytoplasm to membranes and their heterodimerization.

Enzyme Numbers (IUBMB) for DGKH Gene

Gene Ontology (GO) - Molecular Function for DGKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003951 NAD+ kinase activity IEA --
GO:0004143 diacylglycerol kinase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with DGKH: view
genes like me logo Genes that share phenotypes with DGKH: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DGKH

CRISPR Products

Inhibitory RNA Products

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

Localization for DGKH Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGKH Gene

Cytoplasm. Cell membrane. Note=Translocated from the cytoplasm to endosomes in response to stress stimuli (PubMed:12810723). Isoform 2 is rapidly relocated back to the cytoplasm upon removal of stress stimuli, whereas isoform 1 exhibits sustained endosomal association (PubMed:12810723). Translocates from the cytoplasm to the cell membrane in the presence of active GTP-bound form of HRAS (PubMed:19710016).

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 DGKH gene
Compartment Confidence
endosome 5
plasma membrane 4
cytosol 4
nucleus 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for DGKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA,IDA 12810723
GO:0005768 endosome IDA 12810723
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DGKH: view

Pathways & Interactions for DGKH Gene

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

Gene Ontology (GO) - Biological Process for DGKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007205 protein kinase C-activating G-protein coupled receptor signaling pathway IMP 12810723
GO:0016310 phosphorylation IEA --
GO:0030168 platelet activation TAS --
GO:0035556 intracellular signal transduction IEA --
GO:0051259 protein oligomerization IMP 12810723
genes like me logo Genes that share ontologies with DGKH: view

No data available for SIGNOR curated interactions for DGKH Gene

Drugs & Compounds for DGKH Gene

(3) Drugs for DGKH Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Dioctanoylglycol Pharma Diacylglycerol kinase inhibitor 0
R 59-022 Pharma Diacylglycerol kinase inhibitor; increases PKC activity 0

(25) Additional Compounds for DGKH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Diglycerides Group A
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Hexadecanoyl-3-(11-eicosenoyl)-sn-glycerol
  • 1-Palmitoyl-3-eicosenoyl-sn-glycerol
  • DAG(16:0/0:0/20:1)
  • DAG(16:0/0:0/20:1n9)
  • DAG(16:0/0:0/20:1w9)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)

(2) Tocris Compounds for DGKH 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 DGKH: view

Transcripts for DGKH Gene

Unigene Clusters for DGKH Gene

Diacylglycerol kinase, eta:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - -
SP4: - -
SP5:
SP6:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b · 34c · 34d
SP1: - -
SP2: - - -
SP3: -
SP4: -
SP5:
SP6:

Relevant External Links for DGKH Gene

GeneLoc Exon Structure for
DGKH
ECgene alternative splicing isoforms for
DGKH

Expression for DGKH Gene

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

Protein differential expression in normal tissues from HIPED for DGKH Gene

This gene is overexpressed in Plasma (31.0), Lung (25.0), and Heart (10.9).

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



Protein tissue co-expression partners for DGKH Gene

NURSA nuclear receptor signaling pathways regulating expression of DGKH Gene:

DGKH

SOURCE GeneReport for Unigene cluster for DGKH Gene:

Hs.733239

mRNA Expression by UniProt/SwissProt for DGKH Gene:

Q86XP1-DGKH_HUMAN
Tissue specificity: Isoform 2 is ubiquitously expressed. Isoform 1 is expressed only in testis, kidney and colon.

Evidence on tissue expression from TISSUES for DGKH Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with DGKH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DGKH Gene

Orthologs for DGKH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DGKH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DGKH 34 35
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia DGKH 34 35
  • 92.08 (n)
cow
(Bos Taurus)
Mammalia DGKH 34 35
  • 89.79 (n)
mouse
(Mus musculus)
Mammalia Dgkh 34 16 35
  • 86.76 (n)
rat
(Rattus norvegicus)
Mammalia Dgkh 34
  • 85.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DGKH 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DGKH 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves DGKH 34 35
  • 80.45 (n)
lizard
(Anolis carolinensis)
Reptilia DGKH 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dgkh 34
  • 77.18 (n)
zebrafish
(Danio rerio)
Actinopterygii dgkh 34 35
  • 71.23 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002226 34
  • 52.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG34384 34 35
  • 52.72 (n)
worm
(Caenorhabditis elegans)
Secernentea dgk-4 35
  • 31 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3334 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2680 35
  • 48 (a)
OneToMany
Species where no ortholog for DGKH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for DGKH Gene

ENSEMBL:
Gene Tree for DGKH (if available)
TreeFam:
Gene Tree for DGKH (if available)

Paralogs for DGKH Gene

Paralogs for DGKH Gene

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

genes like me logo Genes that share paralogs with DGKH: view

Variants for DGKH Gene

Sequence variations from dbSNP and Humsavar for DGKH Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000016288 -- 42,076,143(+) TTTTT(A/T)AAAAA intron-variant
rs1000033561 -- 42,218,042(+) ATCAT(C/T)ATCAT intron-variant
rs1000054051 -- 42,047,594(+) ACACC(C/T)GTGAG intron-variant, upstream-variant-2KB
rs1000079835 -- 42,163,160(+) TTCCA(A/G)TTTCA intron-variant
rs1000085702 -- 42,217,665(+) ATTCT(A/G)TAAAC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv104e215 CNV deletion 23714750
dgv961n106 CNV deletion 24896259
esv1238821 CNV deletion 17803354
esv2150531 CNV deletion 18987734
esv2646739 CNV deletion 19546169
esv2661097 CNV deletion 23128226
esv2747310 CNV deletion 23290073
esv2747311 CNV deletion 23290073
esv2747312 CNV deletion 23290073
esv2747313 CNV deletion 23290073
esv2759934 CNV loss 17122850
esv2952 CNV loss 18987735
esv3305161 CNV mobile element insertion 20981092
esv3323658 CNV insertion 20981092
esv3360672 CNV insertion 20981092
esv3580618 CNV loss 25503493
esv3631888 CNV loss 21293372
esv3631889 CNV gain 21293372
nsv1016 CNV insertion 18451855
nsv1070167 CNV deletion 25765185
nsv1134305 CNV deletion 24896259
nsv1153684 CNV deletion 26484159
nsv455866 CNV loss 19166990
nsv455867 CNV loss 19166990
nsv510333 OTHER sequence alteration 20534489
nsv519614 CNV loss 19592680
nsv523454 CNV loss 19592680
nsv561542 CNV loss 21841781
nsv561543 CNV loss 21841781
nsv819965 CNV loss 19587683
nsv832588 CNV gain 17160897
nsv832589 CNV loss 17160897
nsv832590 CNV gain 17160897
nsv9070 CNV gain 18304495
nsv958130 CNV deletion