DGKI diacylglycerol kinase, iota [Homo sapiens] - Gene

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Summary

Official Symbol: DGKIprovided by HGNC
Official Full Name: diacylglycerol kinase, iotaprovided by HGNC
Primary source: HGNC:2855
See related: Ensembl:ENSG00000157680; HPRD:07238; MIM:604072; Vega:OTTHUMG00000155697
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: DGK-IOTA
Summary: This gene is a member of the type IV diacylglycerol kinase subfamily. Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid. The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 7q32.3-q33

Sequence :: Chromosome: 7; NC_000007.13 (137074385..137531609, complement)

See DGKI in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 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?

Here, we report results from a fine-mapping approach involving linkage and association analysis in Finnish and German dyslexic cohorts. We restrict a candidate region to 0.3 Mb on chromosome 7q33.
Title: SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations.
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.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association study implicates PARD3B-based AIDS restriction.

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Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
GTPase inhibitor activity	IEA Inferred from Electronic Annotation more info
Ras GTPase binding	IEA Inferred from Electronic Annotation more info
diacylglycerol kinase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction 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	IEA Inferred from Electronic Annotation more info
blood coagulation	TAS Traceable Author Statement more info
intracellular signal transduction	IEA Inferred from Electronic Annotation more info
negative regulation of catalytic activity	IEA Inferred from Electronic Annotation more info
platelet activation	TAS Traceable Author Statement more info
positive regulation of Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
regulation of Rap GTPase activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
guanyl-nucleotide exchange factor complex	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: diacylglycerol kinase iota

Names: diacylglycerol kinase iota; DAG kinase iota; diglyceride kinase iota

NP_004708.1

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.

mRNA and Protein(s)

NM_004717.2 → NP_004708.1 diacylglycerol kinase iota

Status: REVIEWED

Source sequence(s)

AF061936

Consensus CDS

CCDS5845.1

UniProtKB/Swiss-Prot

O75912

Related

ENSP00000288490, OTTHUMP00000208492, ENST00000288490, OTTHUMT00000341286

Conserved Domains (6) summary

cd00204
Location:929 – 1047
Blast Score: 186

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

COG1597
Location:374 – 693
Blast Score: 214

LCB5; Sphingosine kinase and enzymes related to eukaryotic diacylglycerol kinase [Lipid metabolism / General function prediction only]

cl00040
Location:251 – 310
Blast Score: 94

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 ...

pfam12796
Location:930 – 1025
Blast Score: 167

Ank_2; Ankyrin repeats (3 copies)

cl01255
Location:378 – 499
Blast Score: 410

DAGK_cat; Diacylglycerol kinase catalytic domain

cl02440
Location:526 – 683
Blast Score: 604

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_000007.13 Reference GRCh37.p5 Primary Assembly

Range

137074385..137531609, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

131379554..131839437, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

136418404..136876991, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009179.17	None
genomic	AC009245.11 (72859..197658)	None
genomic	AC022173.7 (123434..135821)	None
genomic	AC078842.2 (118622..160563)	None
genomic	AC090498.4	None
genomic	CH236950.1	EAL24051.1
genomic	CH471070.1	EAW83873.1
		EAW83874.1
		EAW83875.1
		EAW83876.1
mRNA	AB209167.1	BAD92404.1
mRNA	AK091081.1	BAG52281.1
other-genetic	BC169212.1	None