DGKQ diacylglycerol kinase theta [Homo sapiens (human)] - Gene

Summary

Official Symbol: DGKQprovided by HGNC
Official Full Name: diacylglycerol kinase thetaprovided by HGNC
Primary source: HGNC:HGNC:2856
See related: Ensembl:ENSG00000145214 MIM:601207; AllianceGenome:HGNC:2856
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DAGK; DAGK4; DAGK7
Summary: The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in small intestine (RPKM 9.9), duodenum (RPKM 8.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p16.3

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (958887..973569, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (956995..971678, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (952675..967357, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry.
Title: Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry.
Roles of DGKs in neurons: Postsynaptic functions?
Title: Roles of DGKs in neurons: Postsynaptic functions?
these data demonstrate that DGKtheta; plays an important role in steroid hormone production in human adrenocortical cells
Title: Silencing diacylglycerol kinase-theta expression reduces steroid hormone biosynthesis and cholesterol metabolism in human adrenocortical cells.
The SF1 and SREBP1 activate DGKtheta; transcription in a cAMP-dependent manner in human adrenocortical cells.
Title: cAMP-stimulated transcription of DGKθ requires steroidogenic factor 1 and sterol regulatory element binding protein 1.
This study found that the minor alleles of GAK rs1564282 and DGKQ rs11248060 significantly increase the risk of PD in Han Chinese populations.
Title: GAK rs1564282 and DGKQ rs11248060 increase the risk for Parkinson's disease in a Chinese population.
Data suggest that diacylglycerol kinase theta is a key mediator of bile-acid-stimulated modulation of farnesoid X receptor/mTOR complex 2/Akt signaling pathway and glucose metabolism/homoeostasis in hepatocytes.
Title: Diacylglycerol kinase θ couples farnesoid X receptor-dependent bile acid signalling to Akt activation and glucose homoeostasis in hepatocytes.
DGKtheta; translocation and activity is regulated by the concerted activity of EGFR and PKC.
Title: Diacylglycerol kinase θ counteracts protein kinase C-mediated inactivation of the EGF receptor.
DGK-theta; directly interacts with, and is activated by, basic proteins such as histone H1 and Tau with nm affinity, consistent with a potential role for a polybasic protein or protein domain in the activation of this enzyme.
Title: Dual regulation of diacylglycerol kinase (DGK)-θ: polybasic proteins promote activation by phospholipids and increase substrate affinity.
Data show that cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17.
Title: Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17.
Nuclear DGK-theta co-localizes with phosphatidylinositol 4,5-bisphosphate (PIP(2)) in domains that correspond to nuclear speckles.
Title: Diacylglycerol kinase-theta is localized in the speckle domains of the nucleus.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomewide association study for susceptibility genes contributing to familial Parkinson disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78064 (e-PCR)
- UniSTS:41319

A008Y17 (e-PCR)
- UniSTS:8323

SHGC-68209 (e-PCR)
- UniSTS:70088

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP-dependent diacylglycerol kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-dependent diacylglycerol kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP-dependent diacylglycerol kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATP-dependent diacylglycerol kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATP-dependent diacylglycerol kinase activity	TAS Traceable Author Statement more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables alkylglycerol kinase activity	IEA Inferred from Electronic Annotation more info
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phospholipase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane receptor protein tyrosine kinase activator activity	IGI Inferred from Genetic Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cAMP-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in diacylglycerol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in diacylglycerol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glycerolipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of peptidyl-threonine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of peptidyl-threonine phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phosphatidic acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidic acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidic acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet activation	TAS Traceable Author Statement more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein kinase C signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in protein kinase C-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of TORC1 signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cortisol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of gluconeogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of progesterone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in response to ATP	IDA Inferred from Direct Assay more info	PubMed
involved_in response to cAMP	IDA Inferred from Direct Assay more info	PubMed
involved_in thrombin-activated receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in nuclear matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear speck	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in vesicle membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: diacylglycerol kinase theta

Names: DAG kinase theta; DGK-theta; DGKtheta; diacylglycerol kinase, theta 110kDa; diglyceride kinase theta; testis tissue sperm-binding protein Li 38a

NP_001338.2

EC 2.7.1.107

EC 2.7.1.93

XP_011511713.1

EC 2.7.1.107

EC 2.7.1.93

XP_011511714.1

EC 2.7.1.107

EC 2.7.1.93

XP_011511716.1

EC 2.7.1.107

EC 2.7.1.93

XP_011511717.1

EC 2.7.1.107

EC 2.7.1.93

XP_047305643.1

EC 2.7.1.107

EC 2.7.1.93

XP_047305644.1

EC 2.7.1.107

EC 2.7.1.93

XP_054205037.1

EC 2.7.1.107

EC 2.7.1.93

XP_054205038.1

EC 2.7.1.107

EC 2.7.1.93

XP_054205039.1

EC 2.7.1.107

EC 2.7.1.93

XP_054205040.1

EC 2.7.1.107

EC 2.7.1.93

XP_054205041.1

EC 2.7.1.107

EC 2.7.1.93

XP_054205042.1

EC 2.7.1.107

EC 2.7.1.93

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001347.4 → NP_001338.2 diacylglycerol kinase theta

See identical proteins and their annotated locations for NP_001338.2

Status: REVIEWED

Source sequence(s)

AB209503, AC019103, BC063801, DN990411

Consensus CDS

CCDS3342.1

UniProtKB/Swiss-Prot

P52824, Q6P3W4

UniProtKB/TrEMBL

A0A140VKC1, E9KL49

Related

ENSP00000273814.3, ENST00000273814.8

Conserved Domains (6) summary

cd01783
Location:395 → 492

DAGK_delta_RA; Ubiquitin-like domain of Diacylgylcerol kinase (DAGK)

smart00045
Location:741 → 893

DAGKa; Diacylglycerol kinase accessory domain (presumed)

smart00046
Location:590 → 714

DAGKc; Diacylglycerol kinase catalytic domain (presumed)

cd00029
Location:61 → 108

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cl00040
Location:122 → 169

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cl00155
Location:296 → 348

UBQ; Ubiquitin-like proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

958887..973569 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011513411.2 → XP_011511713.1 diacylglycerol kinase theta isoform X2

UniProtKB/TrEMBL

E9KL49

Conserved Domains (5) summary

smart00045
Location:741 → 893

DAGKa; Diacylglycerol kinase accessory domain (presumed)

smart00046
Location:590 → 714

DAGKc; Diacylglycerol kinase catalytic domain (presumed)

cd00029
Location:61 → 108

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cl00040
Location:122 → 169

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cl00155
Location:395 → 475

UBQ; Ubiquitin-like proteins
XM_047449687.1 → XP_047305643.1 diacylglycerol kinase theta isoform X1
XM_011513412.2 → XP_011511714.1 diacylglycerol kinase theta isoform X3

Conserved Domains (5) summary

cd01783
Location:395 → 492

DAGK_delta_RA; Ubiquitin-like domain of Diacylgylcerol kinase (DAGK)

cd00029
Location:61 → 108

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cl00040
Location:122 → 169

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cl00155
Location:296 → 348

UBQ; Ubiquitin-like proteins

cl01255
Location:590 → 629

DAGK_cat; Diacylglycerol kinase catalytic domain
XM_011513414.3 → XP_011511716.1 diacylglycerol kinase theta isoform X4

See identical proteins and their annotated locations for XP_011511716.1

Conserved Domains (4) summary

cd01783
Location:395 → 492

DAGK_delta_RA; Ubiquitin-like domain of Diacylgylcerol kinase (DAGK)

cd00029
Location:61 → 108

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cl00040
Location:122 → 169

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cl00155
Location:296 → 348

UBQ; Ubiquitin-like proteins
XM_047449688.1 → XP_047305644.1 diacylglycerol kinase theta isoform X4
XM_011513415.2 → XP_011511717.1 diacylglycerol kinase theta isoform X5

Conserved Domains (3) summary

cd00029
Location:61 → 108

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cl00040
Location:122 → 169

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

cl00155
Location:395 → 481

UBQ; Ubiquitin-like proteins