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    DGKI diacylglycerol kinase iota [ Homo sapiens (human) ]

    Gene ID: 9162, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See DGKI in Genome Data Viewer
    Location:
    7q33
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (137381037..137846974, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (138690170..139156064, complement)
    RS_2024_09 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. 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
    2. 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
    3. The cloning and characterization of a novel human diacylglycerol kinase, DGKiota. Ding L, et al. J Biol Chem, 1998 Dec 4. PMID 9830018
    4. 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
    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 (20) 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)

    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 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
    		  
    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
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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_2024_08

    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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