DGKH diacylglycerol kinase eta [Homo sapiens (human)] - Gene

Summary

Official Symbol: DGKHprovided by HGNC
Official Full Name: diacylglycerol kinase etaprovided by HGNC
Primary source: HGNC:HGNC:2854
See related: Ensembl:ENSG00000102780 MIM:604071; AllianceGenome:HGNC:2854
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: DGKeta
Summary: 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]
Expression: Ubiquitous expression in endometrium (RPKM 2.6), placenta (RPKM 1.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.11

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (42040070..42256584)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (41259613..41476312)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (42614206..42830720)

Chromosome 13 - NC_000013.11 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 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?

Diacylglycerol Kinase Inhibition Reduces Airway Contraction by Negative Feedback Regulation of Gq-Signaling.
Title: Diacylglycerol Kinase Inhibition Reduces Airway Contraction by Negative Feedback Regulation of Gq-Signaling.
The present study shows that a bipolar-risk allele of DGKH is associated with higher openness to experience, providing further evidence for the implication of this gene in the etiology of bipolar disorder.
Title: Implication of the DGKH genotype in openness to experience, a premorbid personality trait of bipolar disorder.
This sstudy shown that the highest expression levels of DGKH in the human brain were found in the striatum.
Title: Expressional profile of the diacylglycerol kinase eta gene DGKH.
DGKH is a replicated risk gene of bipolar disorder (BD).
Title: DGKH genetic risk variant influences gene expression in bipolar affective disorder.
several single variants and genes showed strong association with Panic Disorders, where DGKH was found to be the strongest Panic Disorder associated gene. Interestingly DGKH has previously demonstrated genome-wide significant association with bipolar disorder as well as evidence of association to other mental disorders.
Title: Whole-exome sequencing implicates DGKH as a risk gene for panic disorder in the Faroese population.
DGKeta-Pleckstrin Homology Domain preferentially interacts with Phosphatidylinositol 4,5-Bisphosphate and has crucial roles in regulating the subcellular localization and physiological function of DGKeta.
Title: The Pleckstrin Homology Domain of Diacylglycerol Kinase η Strongly and Selectively Binds to Phosphatidylinositol 4,5-Bisphosphate.
This study demonstrated that significant association of the DGKH risk haplotype with increased amygdala volume in Bipolar disorder, but not in schizophreia or healthy controls.
Title: Influence of DGKH variants on amygdala volume in patients with bipolar affective disorder and schizophrenia.
These findings implicate a link between nucleotide variant of DGKH and a cause for a complex-trait disease, calcium oxalate stone
Title: Association study of DGKH gene polymorphisms with calcium oxalate stone in Chinese population.
DGKK variants are associated with hypospadias
Title: Diacylglycerol kinase K variants impact hypospadias in a California study population.
expressions of DGKeta and DGKzeta were increased and decreased, respectively, whereas those of DGKgamma and DGKepsilon remained unchanged. This is the first report that describes the differential regulation of DGK isoforms in normal and failing human hearts.
Title: Differential regulation of diacylglycerol kinase isoform in human failing hearts.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide Interrogation of Longitudinal FEV1 in Children with Asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. 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

RH39631 (e-PCR)
- UniSTS:92180

RH103765 (e-PCR)
- UniSTS:98090

SHGC-141737 (e-PCR)
- UniSTS:171057

SHGC-6155 (e-PCR)
- UniSTS:80701

DGKH_1379 (e-PCR)
- UniSTS:280642

D13S1355 (e-PCR)
- UniSTS:75083

SHGC-68342 (e-PCR)
- UniSTS:95429

SHGC-133032 (e-PCR)
- UniSTS:170983

Clone Names

FLJ26505, FLJ30408, FLJ30865, FLJ33272, DKFZp761I1510

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 SAM domain binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in diacylglycerol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in diacylglycerol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidic acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidic acid biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidic acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C/protein kinase C signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet activation	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
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
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: diacylglycerol kinase eta

Names: DAG kinase eta; diglyceride kinase eta

NP_001191433.1

EC 2.7.1.107

NP_001191434.1

EC 2.7.1.107

NP_001191435.1

EC 2.7.1.107

NP_001284358.1

EC 2.7.1.107

NP_690874.2

EC 2.7.1.107

NP_821077.1

EC 2.7.1.107

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.

Genomic

NG_029191.3 RefSeqGene

Range

13613..207861

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001204504.3 → NP_001191433.1 diacylglycerol kinase eta isoform 1

See identical proteins and their annotated locations for NP_001191433.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same isoform (1).

Source sequence(s)

AB078968, AK289546, AK302727, AL136527, BC043292, BM978856

Consensus CDS

CCDS9382.1

UniProtKB/TrEMBL

A8K0I1

Related

ENSP00000368576.3, ENST00000379274.6

Conserved Domains (6) summary

smart00109
Location:248 → 293

C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)

smart00045
Location:770 → 927

DAGKa; Diacylglycerol kinase accessory domain (presumed)

smart00046
Location:334 → 456

DAGKc; Diacylglycerol kinase catalytic domain (presumed)

cd00029
Location:176 → 225

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 ...

cd13274
Location:67 → 163

PH_DGK_type2; Type 2 Diacylglycerol kinase Pleckstrin homology (PH) domain

pfam00169
Location:67 → 156

PH; PH domain
NM_001204505.3 → NP_001191434.1 diacylglycerol kinase eta isoform 3

See identical proteins and their annotated locations for NP_001191434.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and contains two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (3) has a shorter N-terminus and a distinct C-terminus, and is shorter than isoform 1.

Source sequence(s)

AB078967, AK302727, AL136527, BC043292, BM978856

Consensus CDS

CCDS55898.1

UniProtKB/TrEMBL

A0A0D9SFR6

Related

ENSP00000445114.2, ENST00000536612.3

Conserved Domains (7) summary

smart00109
Location:112 → 157

C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)

smart00454
Location:1012 → 1091

SAM; Sterile alpha motif

smart00045
Location:634 → 791

DAGKa; Diacylglycerol kinase accessory domain (presumed)

smart00046
Location:198 → 320

DAGKc; Diacylglycerol kinase catalytic domain (presumed)

cd00029
Location:40 → 89

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 ...

cl15755
Location:1011 → 1091

SAM_superfamily; SAM (Sterile alpha motif )

cl17171
Location:1 → 27

PH-like; Pleckstrin homology-like domain
NM_001204506.3 → NP_001191435.1 diacylglycerol kinase eta isoform 4

See identical proteins and their annotated locations for NP_001191435.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus and a distinct C-terminus, and is shorter than isoform 1.

Source sequence(s)

AB078967, AK302727, AL136527, BC043292, BM978856

Consensus CDS

CCDS55899.1

UniProtKB/TrEMBL

A0A0D9SFR6

Related

ENSP00000485809.1, ENST00000628433.2

Conserved Domains (7) summary

cd09576
Location:1011 → 1075

SAM_DGK-eta; SAM domain of diacylglycerol kinase eta

smart00109
Location:112 → 157

C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)

smart00454
Location:1012 → 1075

SAM; Sterile alpha motif

smart00045
Location:634 → 791

DAGKa; Diacylglycerol kinase accessory domain (presumed)

smart00046
Location:198 → 320

DAGKc; Diacylglycerol kinase catalytic domain (presumed)

cd00029
Location:40 → 89

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 ...

cl17171
Location:1 → 27

PH-like; Pleckstrin homology-like domain
NM_001297429.2 → NP_001284358.1 diacylglycerol kinase eta isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, two exons in the central coding region, and an in-frame exon in the 3' coding region, compared to variant 1. It initiates translation at an alternate downstream start codon. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AK302631, AK302727, AL136527, AL139328, BC043292, BM978856

UniProtKB/TrEMBL

B4DYW1

Conserved Domains (2) summary

smart00045
Location:525 → 682

DAGKa; Diacylglycerol kinase accessory domain (presumed)

smart00046
Location:89 → 211

DAGKc; Diacylglycerol kinase catalytic domain (presumed)
NM_152910.6 → NP_690874.2 diacylglycerol kinase eta isoform 1

See identical proteins and their annotated locations for NP_690874.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 3 encode the same isoform (1).

Source sequence(s)

AB078967, AK302631, AL136527, AL157932, BC043292, BM978856, DR002010

Consensus CDS

CCDS9382.1

UniProtKB/TrEMBL

A8K0I1

Related

ENSP00000261491.4, ENST00000261491.9

Conserved Domains (6) summary

smart00109
Location:248 → 293

C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)

smart00045
Location:770 → 927

DAGKa; Diacylglycerol kinase accessory domain (presumed)

smart00046
Location:334 → 456

DAGKc; Diacylglycerol kinase catalytic domain (presumed)

cd00029
Location:176 → 225

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 ...

cd13274
Location:67 → 163

PH_DGK_type2; Type 2 Diacylglycerol kinase Pleckstrin homology (PH) domain

pfam00169
Location:67 → 156

PH; PH domain
NM_178009.5 → NP_821077.1 diacylglycerol kinase eta isoform 2

See identical proteins and their annotated locations for NP_821077.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AB078968, AK302727, AL136527, AL157932, BC043292, BM978856, DR002010

Consensus CDS

CCDS9381.1

UniProtKB/Swiss-Prot

A2A2W7, A6NFX7, B4DZ34, Q5VZW0, Q6PI56, Q86XP1, Q86XP2, Q8N3N0, Q8N7J9

UniProtKB/TrEMBL

A8K0I1

Related

ENSP00000337572.4, ENST00000337343.9

Conserved Domains (8) summary

cd09576
Location:1147 → 1211

SAM_DGK-eta; SAM domain of diacylglycerol kinase eta

smart00109
Location:248 → 293

C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)

smart00454
Location:1148 → 1211

SAM; Sterile alpha motif

smart00045
Location:770 → 927

DAGKa; Diacylglycerol kinase accessory domain (presumed)

smart00046
Location:334 → 456

DAGKc; Diacylglycerol kinase catalytic domain (presumed)

cd00029
Location:176 → 225

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 ...

cd13274
Location:67 → 163

PH_DGK_type2; Type 2 Diacylglycerol kinase Pleckstrin homology (PH) domain

pfam00169
Location:67 → 156

PH; PH domain

RNA

NR_123714.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks multiple 5' exons, contains an alternate 5' terminal exon, and uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5' most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK122909, AK302631, AK302727, AL136527, AL139328, BC043292, BM978856
NR_123715.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks multiple 5' exons, contains three alternate 5' terminal exons, contains an alternate internal exon, uses an alternate splice site in an internal exon, and differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5' most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK302727, AL136527, AL139328, BC044822

Related

ENST00000498255.6