DGKD diacylglycerol kinase, delta 130kDa [Homo sapiens] - Gene

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Summary

Official Symbol: DGKDprovided by HGNC
Official Full Name: diacylglycerol kinase, delta 130kDaprovided by HGNC
Primary source: HGNC:2851
See related: Ensembl:ENSG00000077044; HPRD:03492; MIM:601826; Vega:OTTHUMG00000133290
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: dgkd-2; DGKdelta; FLJ26930; KIAA0145
Summary: This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 2q37.1

Sequence :: Chromosome: 2; NC_000002.11 (234263153..234380743)

See DGKD in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

This study demonistrated that the lack of association of DGKD SNPs with PD in the Han Chinese population.
Title: Analysis of the genotype of diacylglycerol kinase delta single-nucleotide polymorphisms in Parkinson disease in the Han Chinese population.
Zinc site mutations impair DGKdelta localization to cytoplasmic puncta and enhance localization the plasma membrane.
Title: Zinc binding drives sheet formation by the SAM domain of diacylglycerol kinase δ.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Data indicate a novel mechanism where diacylglycerol kinase delta and protein kinase Calpha modulate the levels of ubiquitinated epidermal growth factor receptors through Akt and ubiquitin-specific protease 8.
Title: Diacylglycerol kinase delta and protein kinase C(alpha) modulate epidermal growth factor receptor abundance and degradation through ubiquitin-specific protease 8.
Polymerization of DGK delta regulates the activity of the enzyme by sequestering DGK delta in an inactive cellular location.
Title: Regulation of enzyme localization by polymerization: polymer formation by the SAM domain of diacylglycerol kinase delta1.
Study identified reduced diacylglycerol kinase delta (DGKdelta) expression and DGK activity in skeletal muscle from type 2 diabetic patients.
Title: Downregulation of diacylglycerol kinase delta contributes to hyperglycemia-induced insulin resistance.
Alternative splicing of the gene generates two isoforms differing in their expression patterns and in regulatory functions
Title: Alternative splicing of the human diacylglycerol kinase delta gene generates two isoforms differing in their expression patterns and in regulatory functions.
Disruption of diacylglycerol kinase delta (DGKD) is associated with seizures in humans and mice.
Title: Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
Phosphorylation is involved in the control of subcellular localization of DGKdelta1.
Title: The plasma membrane translocation of diacylglycerol kinase delta1 is negatively regulated by conventional protein kinase C-dependent phosphorylation at Ser-22 and Ser-26 within the pleckstrin homology domain.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.

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Products	Interactant	Other Gene	Source	Pubs	Description
Q16760	Q16760	DGKD	HPRD	PubMed
Q16760	Q86XP1	DGKH	HPRD	PubMed
Q16760	O00165	HAX1	HPRD	PubMed
Q16760	Q96ID5	IGSF21	HPRD	PubMed
Q16760	Q9UKX2	MYH2	HPRD	PubMed
Q16760	P17252	PRKCA	HPRD	PubMed
BioGRID:114097	BioGRID:114097	DGKD	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114097	BioGRID:127768	DGKH	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114097	BioGRID:115719	HAX1	BioGRID	PubMed	Two-hybrid
BioGRID:114097	BioGRID:124396	IGSF21	BioGRID	PubMed	Two-hybrid
BioGRID:114097	BioGRID:126754	SREK1	BioGRID	PubMed	Two-hybrid
BioGRID:114097	BioGRID:114298	TNFRSF14	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
diacylglycerol binding	NAS Non-traceable Author Statement more info	PubMed
diacylglycerol kinase activity	IDA Inferred from Direct Assay more info	PubMed
diacylglycerol kinase activity	TAS Traceable Author Statement more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	NAS Non-traceable Author Statement more info	PubMed
blood coagulation	TAS Traceable Author Statement more info
cell growth	NAS Non-traceable Author Statement more info	PubMed
diacylglycerol metabolic process	IC Inferred by Curator more info	PubMed
diacylglycerol metabolic process	NAS Non-traceable Author Statement more info	PubMed
endocytosis	IEA Inferred from Electronic Annotation more info
epidermal growth factor receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
multicellular organismal development	NAS Non-traceable Author Statement more info	PubMed
platelet activation	TAS Traceable Author Statement more info
protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
protein transport	IEA Inferred from Electronic Annotation more info
response to organic substance	IDA Inferred from Direct Assay more info	PubMed
second-messenger-mediated signaling	NAS Non-traceable Author Statement more info	PubMed
signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasmic membrane-bounded vesicle	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: diacylglycerol kinase delta

Names: diacylglycerol kinase delta; DGK-delta; DAG kinase delta; diglyceride kinase delta

NP_003639.2

EC 2.7.1.107

NP_690618.2

EC 2.7.1.107

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_029495.1 RefSeqGene

Range

5001..122591

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003648.2 → NP_003639.2 diacylglycerol kinase delta isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR and uses a different in-frame start codon, compared to variant 2. The encoded isoform (1) has a shorter, distinct N-terminus, compared to isoform 2.

Source sequence(s)

BC006561, D63479, D73409

Consensus CDS

CCDS46546.1

UniProtKB/Swiss-Prot

Q16760

Related

ENSP00000386455, OTTHUMP00000203355, ENST00000409813, OTTHUMT00000330085

Conserved Domains (6) summary

cd00029
Location:120 – 169
Blast Score: 165

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 ...

cd00821
Location:12 – 100
Blast Score: 173

PH; Pleckstrin homology (PH) domain

cd09575
Location:1097 – 1161
Blast Score: 366

SAM_DGK-delta; SAM domain of diacylglycerol kinase delta

smart00454
Location:1098 – 1161
Blast Score: 199

SAM; Sterile alpha motif.

cl01255
Location:279 – 401
Blast Score: 420

DAGK_cat; Diacylglycerol kinase catalytic domain

cl02440
Location:719 – 876
Blast Score: 688

DAGK_acc; Diacylglycerol kinase accessory domain
NM_152879.2 → NP_690618.2 diacylglycerol kinase delta isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).

Source sequence(s)

AC013726, BC006561, D63479

Consensus CDS

CCDS2504.1

UniProtKB/Swiss-Prot

Q16760

Related

ENSP00000264057, OTTHUMP00000164394, ENST00000264057, OTTHUMT00000257072

Conserved Domains (6) summary

cd00029
Location:164 – 213
Blast Score: 165

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 ...

cd00821
Location:56 – 144
Blast Score: 173

PH; Pleckstrin homology (PH) domain

cd09575
Location:1141 – 1205
Blast Score: 365

SAM_DGK-delta; SAM domain of diacylglycerol kinase delta

smart00454
Location:1142 – 1205
Blast Score: 198

SAM; Sterile alpha motif.

cl01255
Location:323 – 445
Blast Score: 420

DAGK_cat; Diacylglycerol kinase catalytic domain

cl02440
Location:763 – 920
Blast Score: 688

DAGK_acc; Diacylglycerol kinase accessory domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

234263153..234380743

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

226097513..226181435

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC013726.7	AAY14862.1
genomic	AC019221.4	AAY24321.1
genomic	CH471063.1	EAW71047.1
		EAW71048.1
		EAW71049.1
		EAW71050.1
mRNA	AB078966.1	BAC11809.1
mRNA	AK130440.1	BAC85352.1
mRNA	AK307426.1	None
mRNA	AK308846.1	None
mRNA	AK311044.1	None
mRNA	BC006561.2	AAH06561.1
mRNA	BC032102.2	None
mRNA	D63479.3	BAA09766.3
mRNA	D73409.1	BAA11134.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q16760.4	GenPept	UniProtKB/Swiss-Prot:Q16760
Q53SE4	GenPept	UniProtKB/TrEMBL:Q53SE4
Q53SV4	GenPept	UniProtKB/TrEMBL:Q53SV4
Q6ZNX6	GenPept	UniProtKB/TrEMBL:Q6ZNX6