DGKK diacylglycerol kinase kappa [Homo sapiens (human)] - Gene

Summary

Official Symbol: DGKKprovided by HGNC
Official Full Name: diacylglycerol kinase kappaprovided by HGNC
Primary source: HGNC:HGNC:32395
See related: Ensembl:ENSG00000274588 MIM:300837; AllianceGenome:HGNC:32395
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
Summary: The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011]
Expression: Biased expression in adrenal (RPKM 2.2), brain (RPKM 0.3) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.22

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (50365409..50470825, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (49636842..49742255, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (50108408..50213824, complement)

Chromosome X - NC_000023.11 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
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?

Five DGKK variants previously reported as associated with hypospadias were identified in the genotype data. None of the variants were associated with second- or third-degree hypospadias (range of odds ratios = 0.7-0.9, all p > .05). None of the variants were associated with second- or third-degree hypospadias (range of odds ratios = 0.7-0.9, all p > .05).
Title: The role of genetic variation in DGKK on moderate and severe hypospadias.
This study successfully implicated DGKK variants in hypospadias risk among a Han Chinese population, especially for mild/moderate cases. Severe forms of hypospadias are likely due to other genetic factors
Title: Association between diacylglycerol kinase kappa variants and hypospadias susceptibility in a Han Chinese population.
Our study provides strong evidence of an association between DGKK nucleotide variants, haplotypes and hypospadias susceptibility.
Title: Further Evidence of the Association of the Diacylglycerol Kinase Kappa (DGKK) Gene With Hypospadias.
FMRP is mostly associated diacylglycerol kinase kappa (Dgkkappa), a master regulator that controls the switch between diacylglycerol and phosphatidic acid signaling pathways.
Title: Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.
Dgkk appears to be a marker or mediator of squamous cell differentiation in development of mouse external genitalia. No association exists between Dgkk expression and formation of preputial cleft in the genital tubercle of diethylsilbestrol treated mice.
Title: Expression Analysis of DGKK during External Genitalia Formation.
Studied the relationship between DGKK single nucleotide polymorphisms (SNPs) and hypospadias risk in the Han Chinese population.
Title: Diacylglycerol kinase κ (DGKK) variants and hypospadias in Han Chinese: association and meta-analysis.
Common variants in DGKK are strongly associated with risk of hypospadias
Title: Common variants in DGKK are strongly associated with risk of hypospadias.
DGK kappa is a novel human type II diacylglycerol kinase
Title: Identification and characterization of a novel human type II diacylglycerol kinase, DGK kappa.

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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
Common variants in DGKK are strongly associated with risk of hypospadias. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify variants in developmental genes associated with hypospadias. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	Treatment of human primary astrocytes with HIV-1 Vpr upregulates expression of six genes, APOE, CCL5, DGKK, GPX5, NOS2, and PXDNL	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

sWXD1435 (e-PCR)
- UniSTS:99631

DXS8307 (e-PCR)
- UniSTS:99774

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	TAS Traceable Author Statement more info
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	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidic acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in platelet activation	TAS Traceable Author Statement more info
involved_in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
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

General protein information

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Preferred Names: diacylglycerol kinase kappa

Names: 142 kDa diacylglycerol kinase; DAG kinase kappa; DGK-kappa; diglyceride kinase kappa

NP_001013764.1

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_033143.2 RefSeqGene

Range

4898..110314

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001013742.4 → NP_001013764.1 diacylglycerol kinase kappa

Status: REVIEWED

Source sequence(s)

AB183864, AC233286, AC239396, AI591038

Consensus CDS

CCDS75980.1

UniProtKB/Swiss-Prot

B2RP91, Q5KSL6

Related

ENSP00000477515.1, ENST00000611977.2

Conserved Domains (7) summary

pfam05887
Location:123 → 179

Trypan_PARP; Procyclic acidic repetitive protein (PARP)

smart00045
Location:857 → 1014

DAGKa; Diacylglycerol kinase accessory domain (presumed)

smart00046
Location:493 → 615

DAGKc; Diacylglycerol kinase catalytic domain (presumed)

cd00029
Location:399 → 449

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:218 → 314

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

pfam00169
Location:217 → 305

PH; PH domain

pfam14820
Location:123 → 185

SPRR2; Small proline-rich 2