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    DGKQ diacylglycerol kinase theta [ Homo sapiens (human) ]

    Gene ID: 1609, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DGKQprovided by HGNC
    Official Full Name
    diacylglycerol kinase thetaprovided by HGNC
    Primary source
    HGNC:HGNC:2856
    See related
    Ensembl:ENSG00000145214 MIM:601207; AllianceGenome:HGNC:2856
    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
    DAGK; DAGK4; DAGK7
    Summary
    The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in small intestine (RPKM 9.9), duodenum (RPKM 8.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DGKQ in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (958887..973569, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (956995..971678, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (952675..967357, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cyclin G associated kinase Neighboring gene uncharacterized LOC105374341 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:872957-874156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:880593-881094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:881095-881594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:905677-906582 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:906583-907488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21140 Neighboring gene transmembrane protein 175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:938924-939517 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:957241-957400 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:961731-962444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:962445-963158 Neighboring gene uncharacterized LOC124900645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:963506-964024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:965861-966501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:973450-974030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21142 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:981121-981298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:983059-983560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:983561-984060 Neighboring gene solute carrier family 26 member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:986529-987340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:987341-988152 Neighboring gene uncharacterized LOC124900646 Neighboring gene alpha-L-iduronidase

    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. Assignment of the human diacylglycerol kinase 4 (DAGK4) gene to chromosome 4p16.3. Endele S, et al. Genomics, 1996 Apr 1. PMID 8617502
    2. Cloning of a novel human diacylglycerol kinase (DGKtheta) containing three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. Houssa B, et al. J Biol Chem, 1997 Apr 18. PMID 9099683
    3. Negative regulation of diacylglycerol kinase theta mediates adenosine-dependent hepatocyte preconditioning. Baldanzi G, et al. Cell Death Differ, 2010 Jun. PMID 20057501
    4. Silencing diacylglycerol kinase-theta expression reduces steroid hormone biosynthesis and cholesterol metabolism in human adrenocortical cells. Cai K, et al. Biochim Biophys Acta, 2014 Apr 4. PMID 24369117, Free PMC Article
    5. GAK rs1564282 and DGKQ rs11248060 increase the risk for Parkinson's disease in a Chinese population. Chen YP, et al. J Clin Neurosci, 2013 Jun. PMID 23618683

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry.
      Title: Association study of MCCC1/LAMP3 and DGKQ variants with Parkinson's disease in patients of Malay ancestry.
    2. Roles of DGKs in neurons: Postsynaptic functions?
      Title: Roles of DGKs in neurons: Postsynaptic functions?
    3. these data demonstrate that DGKtheta; plays an important role in steroid hormone production in human adrenocortical cells
      Title: Silencing diacylglycerol kinase-theta expression reduces steroid hormone biosynthesis and cholesterol metabolism in human adrenocortical cells.
    4. The SF1 and SREBP1 activate DGKtheta; transcription in a cAMP-dependent manner in human adrenocortical cells.
      Title: cAMP-stimulated transcription of DGKθ requires steroidogenic factor 1 and sterol regulatory element binding protein 1.
    5. This study found that the minor alleles of GAK rs1564282 and DGKQ rs11248060 significantly increase the risk of PD in Han Chinese populations.
      Title: GAK rs1564282 and DGKQ rs11248060 increase the risk for Parkinson's disease in a Chinese population.
    6. Data suggest that diacylglycerol kinase theta is a key mediator of bile-acid-stimulated modulation of farnesoid X receptor/mTOR complex 2/Akt signaling pathway and glucose metabolism/homoeostasis in hepatocytes.
      Title: Diacylglycerol kinase θ couples farnesoid X receptor-dependent bile acid signalling to Akt activation and glucose homoeostasis in hepatocytes.
    7. DGKtheta; translocation and activity is regulated by the concerted activity of EGFR and PKC.
      Title: Diacylglycerol kinase θ counteracts protein kinase C-mediated inactivation of the EGF receptor.
    8. DGK-theta; directly interacts with, and is activated by, basic proteins such as histone H1 and Tau with nm affinity, consistent with a potential role for a polybasic protein or protein domain in the activation of this enzyme.
      Title: Dual regulation of diacylglycerol kinase (DGK)-θ: polybasic proteins promote activation by phospholipids and increase substrate affinity.
    9. Data show that cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17.
      Title: Cyclic AMP-stimulated interaction between steroidogenic factor 1 and diacylglycerol kinase theta facilitates induction of CYP17.
    10. Nuclear DGK-theta co-localizes with phosphatidylinositol 4,5-bisphosphate (PIP(2)) in domains that correspond to nuclear speckles.
      Title: Diacylglycerol kinase-theta is localized in the speckle domains of the nucleus.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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
    Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.
    EBI GWAS Catalog
    Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.
    EBI GWAS Catalog
    Genomewide association study for susceptibility genes contributing to familial Parkinson disease.
    EBI GWAS Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog
    Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
    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

    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables ATP-dependent diacylglycerol kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ATP-dependent diacylglycerol kinase activity TAS
    Traceable Author Statement
    more info
    		  
    enables DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables alkylglycerol kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane receptor protein tyrosine kinase activator activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to bile acid IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in diacylglycerol metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in glycerolipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glycerolipid 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 lipid phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of peptidyl-threonine phosphorylation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in phosphatidic acid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phosphatidic acid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in platelet activation TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of TORC1 signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cortisol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of gluconeogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of progesterone biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of synaptic vesicle endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to cAMP IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in thrombin-activated receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in vesicle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    diacylglycerol kinase theta
    Names
    DAG kinase theta
    DGK-theta
    DGKtheta
    diacylglycerol kinase, theta 110kDa
    diglyceride kinase theta
    testis tissue sperm-binding protein Li 38a
    NP_001338.2
    XP_011511713.1
    XP_011511714.1
    XP_011511716.1
    XP_011511717.1
    XP_047305643.1
    XP_047305644.1
    XP_054205037.1
    XP_054205038.1
    XP_054205039.1
    XP_054205040.1
    XP_054205041.1
    XP_054205042.1

    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_001347.4 → NP_001338.2  diacylglycerol kinase theta

      See identical proteins and their annotated locations for NP_001338.2

      Status: REVIEWED

      Source sequence(s)
      AB209503, AC019103, BC063801, DN990411
      Consensus CDS
      CCDS3342.1
      UniProtKB/Swiss-Prot
      P52824, Q6P3W4
      UniProtKB/TrEMBL
      A0A140VKC1, E9KL49
      Related
      ENSP00000273814.3, ENST00000273814.8
      Conserved Domains (6) summary
      cd01783
      Location:395 → 492
      DAGK_delta_RA; Ubiquitin-like domain of Diacylgylcerol kinase (DAGK)
      smart00045
      Location:741 → 893
      DAGKa; Diacylglycerol kinase accessory domain (presumed)
      smart00046
      Location:590 → 714
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
      cd00029
      Location:61 → 108
      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 ...
      cl00040
      Location:122 → 169
      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 ...
      cl00155
      Location:296 → 348
      UBQ; Ubiquitin-like proteins

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      958887..973569 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513411.2 → XP_011511713.1  diacylglycerol kinase theta isoform X2

      UniProtKB/TrEMBL
      E9KL49
      Conserved Domains (5) summary
      smart00045
      Location:741 → 893
      DAGKa; Diacylglycerol kinase accessory domain (presumed)
      smart00046
      Location:590 → 714
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
      cd00029
      Location:61 → 108
      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 ...
      cl00040
      Location:122 → 169
      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 ...
      cl00155
      Location:395 → 475
      UBQ; Ubiquitin-like proteins

    2. XM_047449687.1 → XP_047305643.1  diacylglycerol kinase theta isoform X1

      UniProtKB/TrEMBL
      E9KL49

    3. XM_011513412.2 → XP_011511714.1  diacylglycerol kinase theta isoform X3

      Conserved Domains (5) summary
      cd01783
      Location:395 → 492
      DAGK_delta_RA; Ubiquitin-like domain of Diacylgylcerol kinase (DAGK)
      cd00029
      Location:61 → 108
      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 ...
      cl00040
      Location:122 → 169
      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 ...
      cl00155
      Location:296 → 348
      UBQ; Ubiquitin-like proteins
      cl01255
      Location:590 → 629
      DAGK_cat; Diacylglycerol kinase catalytic domain

    4. XM_011513414.3 → XP_011511716.1  diacylglycerol kinase theta isoform X4

      See identical proteins and their annotated locations for XP_011511716.1

      Conserved Domains (4) summary
      cd01783
      Location:395 → 492
      DAGK_delta_RA; Ubiquitin-like domain of Diacylgylcerol kinase (DAGK)
      cd00029
      Location:61 → 108
      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 ...
      cl00040
      Location:122 → 169
      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 ...
      cl00155
      Location:296 → 348
      UBQ; Ubiquitin-like proteins

    5. XM_047449688.1 → XP_047305644.1  diacylglycerol kinase theta isoform X4

    6. XM_011513415.2 → XP_011511717.1  diacylglycerol kinase theta isoform X5

      Conserved Domains (3) summary
      cd00029
      Location:61 → 108
      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 ...
      cl00040
      Location:122 → 169
      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 ...
      cl00155
      Location:395 → 481
      UBQ; Ubiquitin-like proteins

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      956995..971678 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349063.1 → XP_054205038.1  diacylglycerol kinase theta isoform X2

      UniProtKB/TrEMBL
      E9KL49

    2. XM_054349062.1 → XP_054205037.1  diacylglycerol kinase theta isoform X1

      UniProtKB/TrEMBL
      E9KL49

    3. XM_054349064.1 → XP_054205039.1  diacylglycerol kinase theta isoform X3

    4. XM_054349066.1 → XP_054205041.1  diacylglycerol kinase theta isoform X4

    5. XM_054349065.1 → XP_054205040.1  diacylglycerol kinase theta isoform X4

    6. XM_054349067.1 → XP_054205042.1  diacylglycerol kinase theta isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52824.2 GenPept UniProtKB/Swiss-Prot:P52824

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