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DGKI diacylglycerol kinase iota [ Homo sapiens (human) ]

Gene ID: 9162, updated on 11-Apr-2024

Summary

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Official Symbol
DGKIprovided by HGNC
Official Full Name
diacylglycerol kinase iotaprovided by HGNC
Primary source
HGNC:HGNC:2855
See related
Ensembl:ENSG00000157680 MIM:604072; AllianceGenome:HGNC:2855
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
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Genomic context

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Location:
7q33
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (137381037..137846974, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (138690170..139156064, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (137065783..137531720, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA SNORD81 Neighboring gene uncharacterized LOC105375527 Neighboring gene pleiotrophin Neighboring gene pleiotrophin promoter Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:137124520-137125036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:137177340-137177840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:137275182-137275682 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:137275817-137277016 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:137327058-137327746 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26725 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:137431381-137432117 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:137438995-137439495 Neighboring gene ribosomal protein L6 pseudogene 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:137467087-137467587 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:137504722-137505502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26726 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:137524999-137525581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:137530559-137531060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18684 Neighboring gene Sharpr-MPRA regulatory region 15617 Neighboring gene Sharpr-MPRA regulatory region 13047 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:137558107-137559306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr7:137563379-137564110 and GRCh37_chr7:137564111-137564844 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:137568315-137568816 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:137569503-137570060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26728 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:137584118-137584834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:137588782-137589282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26730 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:137616267-137616482 Neighboring gene cAMP responsive element binding protein 3 like 2 Neighboring gene Sharpr-MPRA regulatory region 2088 Neighboring gene CREB3L2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:137662984-137663912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26736 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:137685857-137686455 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:137686456-137687053 Neighboring gene uncharacterized LOC124901752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26740

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. DGKI methylation status modulates the prognostic value of MGMT in glioblastoma patients treated with combined radio-chemotherapy with temozolomide. Etcheverry A, et al. PLoS One, 2014. PMID 25233099, Free PMC Article
  2. Evaluation of human diacylglycerol kinase(iota), DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q. Bowne SJ, et al. Mol Vis, 2000 Feb 22. PMID 10706894, Free PMC Article
  3. SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations. Matsson H, et al. Behav Genet, 2011 Jan. PMID 21203819
  4. The cloning and characterization of a novel human diacylglycerol kinase, DGKiota. Ding L, et al. J Biol Chem, 1998 Dec 4. PMID 9830018
  5. Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets. Bai M, et al. Front Immunol, 2022. PMID 36059514, Free PMC Article

See all (19) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets.
    Title: Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets.
  2. the DGKI methylation status identified 22% of poorly responding patients in the low-risk group
    Title: DGKI methylation status modulates the prognostic value of MGMT in glioblastoma patients treated with combined radio-chemotherapy with temozolomide.
  3. 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.
  4. 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.
  5. 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

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42406

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
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in diacylglycerol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid phosphorylation 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 platelet activation TAS
Traceable Author Statement
more info
  
involved_in protein kinase C-activating G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in axon IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in dendritic spine IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synapse IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synaptic membrane IEA
Inferred from Electronic Annotation
more info
  
located_in synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
diacylglycerol kinase iota
Names
DAG kinase iota
diglyceride kinase iota
NP_001308637.1
NP_001308638.1
NP_001308639.1
NP_001375021.1
NP_004708.1
XP_047276976.1
XP_047276977.1
XP_047276978.1
XP_047276979.1
XP_054215288.1
XP_054215289.1
XP_054215290.1
XP_054215291.1

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.

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC009179, AC022173, AC078842, AC090498
    Consensus CDS
    CCDS94212.1
    UniProtKB/TrEMBL
    A0A087WV00, E7EM72
    Related
    ENSP00000479053.2, ENST00000614521.2
    Conserved Domains (7) summary
    smart00045
    Location:526 → 683
    DAGKa; Diacylglycerol kinase accessory domain (presumed)
    smart00046
    Location:378 → 499
    DAGKc; Diacylglycerol kinase catalytic domain (presumed)
    COG1597
    Location:374 → 693
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]
    cd00204
    Location:925 → 1039
    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:251 → 310
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam12796
    Location:922 → 1017
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:950 → 983
    ANK; ANK repeat [structural motif]

  2. NM_001321709.2 → NP_001308638.1  diacylglycerol kinase iota isoform 3

    Status: REVIEWED

    Source sequence(s)
    AB209167, AC022173, AC078842, AF061936, AW237608, DA696180, DR002813
    UniProtKB/TrEMBL
    Q59GE2
    Conserved Domains (6) summary
    smart00045
    Location:226 → 383
    DAGKa; Diacylglycerol kinase accessory domain (presumed)
    smart00046
    Location:78 → 199
    DAGKc; Diacylglycerol kinase catalytic domain (presumed)
    COG1597
    Location:74 → 393
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]
    cd00204
    Location:625 → 739
    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:622 → 717
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:650 → 683
    ANK; ANK repeat [structural motif]

  3. NM_001321710.2 → NP_001308639.1  diacylglycerol kinase iota isoform 4

    Status: REVIEWED

    Source sequence(s)
    AB209167, AC078842, AF061936, AW237608, DR002813
    Consensus CDS
    CCDS83227.1
    UniProtKB/TrEMBL
    E9PFX6, Q59GE2
    Related
    ENSP00000392161.1, ENST00000453654.6
    Conserved Domains (6) summary
    smart00045
    Location:226 → 383
    DAGKa; Diacylglycerol kinase accessory domain (presumed)
    smart00046
    Location:78 → 199
    DAGKc; Diacylglycerol kinase catalytic domain (presumed)
    COG1597
    Location:74 → 393
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]
    cd00204
    Location:602 → 716
    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:599 → 694
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:627 → 660
    ANK; ANK repeat [structural motif]

  4. NM_001388092.1 → NP_001375021.1  diacylglycerol kinase iota isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC009179, AC022173, AC078842, AC090498
    Consensus CDS
    CCDS94213.1
    UniProtKB/TrEMBL
    E7EM72, E7EWQ4
    Related
    ENSP00000396078.2, ENST00000424189.6
    Conserved Domains (7) summary
    smart00045
    Location:526 → 683
    DAGKa; Diacylglycerol kinase accessory domain (presumed)
    smart00046
    Location:378 → 499
    DAGKc; Diacylglycerol kinase catalytic domain (presumed)
    COG0666
    Location:874 → 1075
    ANKYR; Ankyrin repeat [Signal transduction mechanisms]
    sd00045
    Location:971 → 1004
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:943 → 1038
    Ank_2; Ankyrin repeats (3 copies)
    cd20850
    Location:168 → 240
    C1_DGKiota_rpt1; first protein kinase C conserved region 1 (C1 domain) found in diacylglycerol kinase iota (DAG kinase iota) and similar proteins
    cd20896
    Location:249 → 323
    C1_DGKiota_rpt2; second protein kinase C conserved region 1 (C1 domain) found in diacylglycerol kinase iota (DAG kinase iota) and similar proteins

  5. NM_004717.3 → NP_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
    A4D1Q9, O75912, Q9NZ49
    UniProtKB/TrEMBL
    E7EM72
    Related
    ENSP00000288490.4, ENST00000288490.9
    Conserved Domains (7) summary
    smart00045
    Location:526 → 683
    DAGKa; Diacylglycerol kinase accessory domain (presumed)
    smart00046
    Location:378 → 499
    DAGKc; Diacylglycerol kinase catalytic domain (presumed)
    COG1597
    Location:374 → 693
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]
    cd00204
    Location:933 → 1047
    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:251 → 310
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    pfam12796
    Location:930 → 1025
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:958 → 991
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    137381037..137846974 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421022.1 → XP_047276978.1  diacylglycerol kinase iota isoform X3

  2. XM_047421021.1 → XP_047276977.1  diacylglycerol kinase iota isoform X2

  3. XM_047421020.1 → XP_047276976.1  diacylglycerol kinase iota isoform X1

  4. XM_047421023.1 → XP_047276979.1  diacylglycerol kinase iota isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    138690170..139156064 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359315.1 → XP_054215290.1  diacylglycerol kinase iota isoform X3

  2. XM_054359314.1 → XP_054215289.1  diacylglycerol kinase iota isoform X2

  3. XM_054359313.1 → XP_054215288.1  diacylglycerol kinase iota isoform X1

  4. XM_054359316.1 → XP_054215291.1  diacylglycerol kinase iota isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75912.1 GenPept UniProtKB/Swiss-Prot:O75912

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