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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 Platelet activation, signaling and aggregation and Signaling by GPCR. 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 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
- Elite enhancer/Elite enhancer-gene association

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

ENSRs around DGKH on UCSC Golden Path with GeneCards custom track

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

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 :
  • Contains 1 DAGKc domain.
  • Belongs to the eukaryotic diacylglycerol kinase family.
  • Contains 2 phorbol-ester/DAG-type zinc fingers.
Domain:
  • Contains 1 DAGKc domain.
  • Contains 1 PH domain.
  • Contains 1 SAM (sterile alpha motif) domain.
Family:
  • Belongs to the eukaryotic diacylglycerol kinase family.
Similarity:
  • Contains 2 phorbol-ester/DAG-type zinc fingers.
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:0004143 diacylglycerol kinase activity TAS --
GO:0005524 ATP binding IEA --
GO:0046872 metal ion binding 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

Clone Products

Flow Cytometry 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
Jensen Localization Image for DGKH Gene COMPARTMENTS Subcellular localization image for DGKH gene
Compartment Confidence
endosome 5
nucleus 5
cytosol 4
plasma membrane 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for DGKH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA 12810723
GO:0005768 endosome IDA 12810723
GO:0005886 plasma membrane TAS --
GO:0031965 nuclear membrane IDA --
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-Myristoyl-3-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
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

Clone Products

Flow Cytometry 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 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.
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 and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia DGKH 34
  • 89.79 (n)
  • 94.82 (a)
DGKH 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DGKH 34
  • 92.08 (n)
  • 95.56 (a)
DGKH 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dgkh 34
  • 86.76 (n)
  • 92.19 (a)
Dgkh 16
Dgkh 35
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DGKH 34
  • 99.51 (n)
  • 99.59 (a)
DGKH 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dgkh 34
  • 85.92 (n)
  • 91.3 (a)
oppossum
(Monodelphis domestica)
Mammalia DGKH 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DGKH 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves DGKH 34
  • 80.45 (n)
  • 84.81 (a)
DGKH 35
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DGKH 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dgkh 34
  • 77.18 (n)
  • 82.59 (a)
zebrafish
(Danio rerio)
Actinopterygii dgkh 34
  • 71.23 (n)
  • 77.89 (a)
dgkh 35
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002226 34
  • 52.97 (n)
  • 52.73 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG34384 34
  • 52.72 (n)
  • 52.66 (a)
CG34384 35
  • 30 (a)
OneToMany
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
rs17646069 - 42,229,127(+) TCATG(C/T)GAAGC nc-transcript-variant, reference, synonymous-codon, missense
rs168329 -- 42,208,876(+) TATAT(A/G)TAGAT intron-variant
rs173213 -- 42,244,882(-) ctgtc(C/G)cccag intron-variant
rs180865 -- 42,247,372(-) acact(G/T)gtagt intron-variant
rs180870 -- 42,219,343(+) AATGA(A/G)GATGA nc-transcript-variant, reference, synonymous-codon

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 24416366
nsv976109 CNV duplication 23825009

Variation tolerance for DGKH Gene

Residual Variation Intolerance Score: 37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.83; 83.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DGKH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DGKH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGKH Gene

Disorders for DGKH Gene

MalaCards: The human disease database

(2) MalaCards diseases for DGKH Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
bipolar disorder
  • bipolar depression
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards
Search DGKH in MalaCards View complete list of genes associated with diseases

Relevant External Links for DGKH

Genetic Association Database (GAD)
DGKH
Human Genome Epidemiology (HuGE) Navigator
DGKH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DGKH
genes like me logo Genes that share disorders with DGKH: view

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

Publications for DGKH Gene

  1. No association between DGKH and bipolar disorder in a Scandinavian case-control sample. (PMID: 19478689) Tesli M. … Djurovic S. (Psychiatr. Genet. 2009) 3 22 46 65
  2. Diacylglycerol kinase eta augments C-Raf activity and B-Raf/C-Raf heterodimerization. (PMID: 19710016) Yasuda S. … Sakane F. (J. Biol. Chem. 2009) 3 4 22 65
  3. Interacting genes in lithium prophylaxis: preliminary results of an exploratory analysis on the role of DGKH and NR1D1 gene polymorphisms in 199 Sardinian bipolar patients. (PMID: 19818381) Manchia M. … Del Zompo M. (Neurosci. Lett. 2009) 3 22 46 65
  4. A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. (PMID: 17486107) Baum A.E. … McMahon F.J. (Mol. Psychiatry 2008) 3 22 46 65
  5. Identification and characterization of two splice variants of human diacylglycerol kinase eta. (PMID: 12810723) Murakami T. … Kanoh H. (J. Biol. Chem. 2003) 3 4 22 65

Products for DGKH Gene

Sources for DGKH Gene

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