• Gene id: 160851

Gene Summary

• Gene Symbol: DGKH   Gene   UCSC   Ensembl
• Aliases: DGKeta
• Gene name: diacylglycerol kinase eta
• Alternate names: diacylglycerol kinase eta, DAG kinase eta, diglyceride kinase eta,
• Gene location: 13q14.11 (42040035: 42256583)     Exons: 38     NC_000013.11
• Gene summary(Entrez): 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 di
• OMIM: 604071

Protein Summary

• Protein general information: Q86XP1  
  • Name: Diacylglycerol kinase eta (DAG kinase eta) (EC 2.7.1.107) (Diglyceride kinase eta) (DGK eta)
  • Length: 1220  
  • Mass: 134866
  • Tissue specificity: Isoform 2 is ubiquitously expressed. Isoform 1 is expressed only in testis, kidney and colon. {ECO
• Sequence:

  MAGAGGQHHPPGAAGGAAAGAGAAVTSAAASAGPGEDSSDSEAEQEGPQKLIRKVSTSGQIRTKTSIKEGQLLKQ
  TSSFQRWKKRYFKLRGRTLYYAKDSKSLIFDEVDLSDASVAEASTKNANNSFTIITPFRRLMLCAENRKEMEDWI
  SSLKSVQTREPYEVAQFNVEHFSGMHNWYACSHARPTFCNVCRESLSGVTSHGLSCEVCKFKAHKRCAVRATNNC
  KWTTLASIGKDIIEDEDGVAMPHQWLEGNLPVSAKCAVCDKTCGSVLRLQDWKCLWCKTMVHTACKDLYHPICPL
  GQCKVSIIPPIALNSTDSDGFCRATFSFCVSPLLVFVNSKSGDNQGVKFLRRFKQLLNPAQVFDLMNGGPHLGLR
  LFQKFDNFRILVCGGDGSVGWVLSEIDKLNLNKQCQLGVLPLGTGNDLARVLGWGGSYDDDTQLPQILEKLERAS
  TKMLDRWSIMTYELKLPPKASLLPGPPEASEEFYMTIYEDSVATHLTKILNSDEHAVVISSAKTLCETVKDFVAK
  VEKTYDKTLENAVVADAVASKCSVLNEKLEQLLQALHTDSQAAPVLPGLSPLIVEEDAVESSSEESLGESKEQLG
  DDVTKPSSQKAVKPREIMLRANSLKKAVRQVIEEAGKVMDDPTVHPCEPANQSSDYDSTETDESKEEAKDDGAKE
  SITVKTAPRSPDARASYGHSQTDSVPGPAVAASKENLPVLNTRIICPGLRAGLAASIAGSSIINKMLLANIDPFG
  ATPFIDPDLDSVDGYSEKCVMNNYFGIGLDAKISLEFNNKREEHPEKCRSRTKNLMWYGVLGTRELLQRSYKNLE
  QRVQLECDGQYIPLPSLQGIAVLNIPSYAGGTNFWGGTKEDDIFAAPSFDDKILEVVAIFDSMQMAVSRVIKLQH
  HRIAQCRTVKITIFGDEGVPVQVDGEAWVQPPGIIKIVHKNRAQMLTRDRAFESTLKSWEDKQKCDSGKPVLRTH
  LYIHHAIDLATEEVSQMQLCSQAAEELITRICDAATIHCLLEQELAHAVNACSHALNKANPRCPESLTRDTATEI
  AINVKALYNETESLLVGRVPLQLESPHEERVSNALHSVEVELQKLTEIPWLYYILHPNEDEEPPMDCTKRNNRST
  VFRIVPKFKKEKVQKQKTSSQPVQKWGTEEVAAWLDLLNLGEYKDIFIRHDIRGAELLHLERRDLKDLGIPKVGH
  VKRILQGIKELGRSTPQSEV

• Structural information:
  • Protein Domains: (65..15-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (328..46-)
    (/note="DAGKc-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00783-)
    (1151..121-)
    (/note="SAM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR017438  IPR037607  IPR000756  IPR001206  IPR016064   IPR002219  IPR011993  IPR001849  IPR001660  IPR013761  
  • Prosite: PS50146 PS50003 PS50105 PS00479 PS50081
  • CDD: cd00029
  • STRING: ENSP00000337572
• Other Databases: GeneCards:  DGKH  Malacards:  DGKH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004143	diacylglycerol kinase activity	IBA	molecular function
GO:0046834	lipid phosphorylation	IBA	biological process
GO:0046486	glycerolipid metabolic process	IBA	biological process
GO:0046339	diacylglycerol metabolic process	IBA	biological process
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0015629	actin cytoskeleton	ISS	cellular component
GO:0004143	diacylglycerol kinase activity	ISS	molecular function
GO:0006654	phosphatidic acid biosynthetic process	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0046834	lipid phosphorylation	ISS	biological process
GO:0046339	diacylglycerol metabolic process	ISS	biological process
GO:0003951	NAD+ kinase activity	IEA	molecular function
GO:0004143	diacylglycerol kinase activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0007205	protein kinase C-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004143	diacylglycerol kinase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0030168	platelet activation	TAS	biological process
GO:0004143	diacylglycerol kinase activity	IDA	molecular function
GO:0046473	phosphatidic acid metabolic process	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0004143	diacylglycerol kinase activity	IMP	molecular function
GO:0007205	protein kinase C-activating G protein-coupled receptor signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04072	Phospholipase D signaling pathway
hsa04070	Phosphatidylinositol signaling system
hsa00564	Glycerophospholipid metabolism
hsa05231	Choline metabolism in cancer
hsa00561	Glycerolipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray