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DGKI diacylglycerol kinase iota [ Homo sapiens (human) ]

Gene ID: 9162, updated on 8-Dec-2018

Summary

Official Symbol
DGKIprovided by HGNC
Official Full Name
diacylglycerol kinase iotaprovided by HGNC
Primary source
HGNC:HGNC:2855
See related
Ensembl:ENSG00000157680 MIM:604072
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]
Expression
Biased expression in thyroid (RPKM 5.1), brain (RPKM 1.6) and 1 other tissue See more
Orthologs

Genomic context

See DGKI in Genome Data Viewer
Location:
7q33
Exon count:
37
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (137384401..137846864, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (137074385..137531609, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375527 Neighboring gene pleiotrophin Neighboring gene pleiotrophin promoter Neighboring gene ribosomal protein L6 pseudogene 19 Neighboring gene cAMP responsive element binding protein 3 like 2 Neighboring gene uncharacterized LOC100130880 Neighboring gene protein phosphatase 2 regulatory subunit B', gamma pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.
NHGRI GWA Catalog
Genome-wide association study implicates PARD3B-based AIDS restriction.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42406

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
NAD+ kinase activity IEA
Inferred from Electronic Annotation
more info
 
Ras GTPase binding IEA
Inferred from Electronic Annotation
more info
 
diacylglycerol kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
diacylglycerol kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
diacylglycerol kinase activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
diacylglycerol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
glycerolipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
habituation IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
lipid phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter secretion 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
 
protein kinase C-activating G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of long-term synaptic depression IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic transmission, glutamatergic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
axon terminus IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
dendritic spine IDA
Inferred from Direct Assay
more info
PubMed 
excitatory synapse IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
extrinsic component of presynaptic active zone membrane IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor complex IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
synapse IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
diacylglycerol kinase iota
Names
DAG kinase iota
diglyceride kinase iota
NP_001308637.1
NP_001308638.1
NP_001308639.1
NP_004708.1
XP_016868269.1
XP_016868277.1

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)

  1. NM_001321708.1NP_001308637.1  diacylglycerol kinase iota isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC078842, AF061936, AW237608, DA696180, DR002813
    UniProtKB/Swiss-Prot
    O75912
    Related
    ENSP00000399131.1, ENST00000446122.5
    Conserved Domains (7) summary
    smart00045
    Location:526683
    DAGKa; Diacylglycerol kinase accessory domain (presumed)
    smart00046
    Location:378499
    DAGKc; Diacylglycerol kinase catalytic domain (presumed)
    COG1597
    Location:374693
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]
    cd00204
    Location:9251039
    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 ...
    pfam00130
    Location:251310
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam12796
    Location:9221017
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:950983
    ANK; ANK repeat [structural motif]
  2. NM_001321709.1NP_001308638.1  diacylglycerol kinase iota isoform 3

    Status: REVIEWED

    Source sequence(s)
    AB209167, AC022173, AC078842, AF061936, AW237608, DA696180, DR002813
    UniProtKB/Swiss-Prot
    O75912
    UniProtKB/TrEMBL
    Q59GE2
    Conserved Domains (6) summary
    smart00045
    Location:226383
    DAGKa; Diacylglycerol kinase accessory domain (presumed)
    smart00046
    Location:78199
    DAGKc; Diacylglycerol kinase catalytic domain (presumed)
    COG1597
    Location:74393
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]
    cd00204
    Location:625739
    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 ...
    pfam12796
    Location:622717
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:650683
    ANK; ANK repeat [structural motif]
  3. NM_001321710.1NP_001308639.1  diacylglycerol kinase iota isoform 4

    Status: REVIEWED

    Source sequence(s)
    AB209167, AC078842, AF061936, AW237608, DR002813
    Consensus CDS
    CCDS83227.1
    UniProtKB/Swiss-Prot
    O75912
    UniProtKB/TrEMBL
    E9PFX6, Q59GE2
    Related
    ENSP00000392161.1, ENST00000453654.6
    Conserved Domains (6) summary
    smart00045
    Location:226383
    DAGKa; Diacylglycerol kinase accessory domain (presumed)
    smart00046
    Location:78199
    DAGKc; Diacylglycerol kinase catalytic domain (presumed)
    COG1597
    Location:74393
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]
    cd00204
    Location:602716
    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 ...
    pfam12796
    Location:599694
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:627660
    ANK; ANK repeat [structural motif]
  4. NM_004717.3NP_004708.1  diacylglycerol kinase iota isoform 1

    See identical proteins and their annotated locations for NP_004708.1

    Status: REVIEWED

    Source sequence(s)
    AC078842, AF061936, AW237608, DR002813
    Consensus CDS
    CCDS5845.1
    UniProtKB/Swiss-Prot
    O75912
    Related
    ENSP00000288490.4, ENST00000288490.9
    Conserved Domains (7) summary
    smart00045
    Location:526683
    DAGKa; Diacylglycerol kinase accessory domain (presumed)
    smart00046
    Location:378499
    DAGKc; Diacylglycerol kinase catalytic domain (presumed)
    COG1597
    Location:374693
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]
    cd00204
    Location:9331047
    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 ...
    pfam00130
    Location:251310
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam12796
    Location:9301025
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:958991
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    137384401..137846864 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012780.2XP_016868269.1  diacylglycerol kinase iota isoform X1

    UniProtKB/TrEMBL
    E7EWQ4
    Related
    ENSP00000396078.2, ENST00000424189.6
  2. XM_017012788.2XP_016868277.1  diacylglycerol kinase iota isoform X2

    Conserved Domains (6) summary
    smart00045
    Location:226383
    DAGKa; Diacylglycerol kinase accessory domain (presumed)
    smart00046
    Location:78199
    DAGKc; Diacylglycerol kinase catalytic domain (presumed)
    COG1597
    Location:74393
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]
    cd00204
    Location:625739
    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 ...
    pfam12796
    Location:622717
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:650683
    ANK; ANK repeat [structural motif]
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