DGKH

Protein identityUniProt · HPA

UniProt accession

Q86XP1

Gene

DGKH

Ensembl

ENSG00000102780

Chromosome

13

Canonical length

1220 aa

Protein class

Enzymes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Vesicles,Plasma membrane

Quaternary structure

Homooligomer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1220 residues, UniProt reviewed canonical sequence.

>Q86XP1|DGKH
     1  MAGAGGQHHP PGAAGGAAAG AGAAVTSAAA SAGPGEDSSD SEAEQEGPQK LIRKVSTSGQ
    61  IRTKTSIKEG QLLKQTSSFQ RWKKRYFKLR GRTLYYAKDS KSLIFDEVDL SDASVAEAST
   121  KNANNSFTII TPFRRLMLCA ENRKEMEDWI SSLKSVQTRE PYEVAQFNVE HFSGMHNWYA
   181  CSHARPTFCN VCRESLSGVT SHGLSCEVCK FKAHKRCAVR ATNNCKWTTL ASIGKDIIED
   241  EDGVAMPHQW LEGNLPVSAK CAVCDKTCGS VLRLQDWKCL WCKTMVHTAC KDLYHPICPL
   301  GQCKVSIIPP IALNSTDSDG FCRATFSFCV SPLLVFVNSK SGDNQGVKFL RRFKQLLNPA
   361  QVFDLMNGGP HLGLRLFQKF DNFRILVCGG DGSVGWVLSE IDKLNLNKQC QLGVLPLGTG
   421  NDLARVLGWG GSYDDDTQLP QILEKLERAS TKMLDRWSIM TYELKLPPKA SLLPGPPEAS
   481  EEFYMTIYED SVATHLTKIL NSDEHAVVIS SAKTLCETVK DFVAKVEKTY DKTLENAVVA
   541  DAVASKCSVL NEKLEQLLQA LHTDSQAAPV LPGLSPLIVE EDAVESSSEE SLGESKEQLG
   601  DDVTKPSSQK AVKPREIMLR ANSLKKAVRQ VIEEAGKVMD DPTVHPCEPA NQSSDYDSTE
   661  TDESKEEAKD DGAKESITVK TAPRSPDARA SYGHSQTDSV PGPAVAASKE NLPVLNTRII
   721  CPGLRAGLAA SIAGSSIINK MLLANIDPFG ATPFIDPDLD SVDGYSEKCV MNNYFGIGLD
   781  AKISLEFNNK REEHPEKCRS RTKNLMWYGV LGTRELLQRS YKNLEQRVQL ECDGQYIPLP
   841  SLQGIAVLNI PSYAGGTNFW GGTKEDDIFA APSFDDKILE VVAIFDSMQM AVSRVIKLQH
   901  HRIAQCRTVK ITIFGDEGVP VQVDGEAWVQ PPGIIKIVHK NRAQMLTRDR AFESTLKSWE
   961  DKQKCDSGKP VLRTHLYIHH AIDLATEEVS QMQLCSQAAE ELITRICDAA TIHCLLEQEL
  1021  AHAVNACSHA LNKANPRCPE SLTRDTATEI AINVKALYNE TESLLVGRVP LQLESPHEER
  1081  VSNALHSVEV ELQKLTEIPW LYYILHPNED EEPPMDCTKR NNRSTVFRIV PKFKKEKVQK
  1141  QKTSSQPVQK WGTEEVAAWL DLLNLGEYKD IFIRHDIRGA ELLHLERRDL KDLGIPKVGH
  1201  VKRILQGIKE LGRSTPQSEV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DGKH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

7.5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DGKH.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 139 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypercholesterolemia, familial, 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.37

gnomAD pLI

0.03

gnomAD missense Z

3

DepMap mean gene effect

-0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• diacylglycerol metabolic process
• intracellular signal transduction
• lipid phosphorylation
• phosphatidic acid biosynthetic process
• phosphatidic acid metabolic process
• phospholipase C-activating G protein-coupled receptor signaling pathway
• phospholipase C/protein kinase C signal transduction
• platelet activation

Molecular functions

• ATP binding
• ATP-dependent diacylglycerol kinase activity
• identical protein binding
• kinase binding
• SAM domain binding
• zinc ion binding

Cellular components

• actin cytoskeleton
• cytoplasm
• endosome
• plasma membrane
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Diacylglycerol kinase, accessory domain
• Diacylglycerol kinase, catalytic domain
• Sterile alpha motif domain
• Pleckstrin homology domain
• Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
• PH-like domain superfamily
• Sterile alpha motif/pointed domain superfamily
• NAD kinase/diacylglycerol kinase-like domain superfamily
• Inorganic polyphosphate/ATP-NAD kinase, N-terminal
• Diacylglycerol kinase
• C1-like domain superfamily
• Diacylglycerol kinase eta/delta/kappa, helical domain
• Phorbol esters/diacylglycerol binding domain (C1 domain)
• PH domain
• Diacylglycerol kinase accessory domain
• Diacylglycerol kinase catalytic domain
• SAM domain (Sterile alpha motif)
• Diacylglycerol kinase delta, helical domain
• Diacylglycerol kinase eta, second protein kinase C conserved region 1

KeywordsUniProt

• ATP-binding
• Cell membrane
• Cytoplasm
• Kinase
• Lipid metabolism
• Membrane
• Metal-binding
• Nucleotide-binding
• Phosphoprotein
• Repeat
• Transferase
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of DGKH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• BRAF
• RAF1