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    DGKH diacylglycerol kinase eta [ Homo sapiens (human) ]

    Gene ID: 160851, updated on 3-Jun-2018
    Official Symbol
    DGKHprovided by HGNC
    Official Full Name
    diacylglycerol kinase etaprovided by HGNC
    Primary source
    HGNC:HGNC:2854
    See related
    Ensembl:ENSG00000102780 MIM:604071; Vega:OTTHUMG00000016804
    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
    DGKeta
    Summary
    This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in endometrium (RPKM 2.6), placenta (RPKM 1.9) and 24 other tissues See more
    Orthologs
    See DGKH in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (42040036..42256584)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (42614172..42804352)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene von Willebrand factor A domain containing 8 Neighboring gene uncharacterized LOC105370176 Neighboring gene VWA8 antisense RNA 1 (head to head) Neighboring gene ribosomal protein S28 pseudogene 8 Neighboring gene mitogen-activated protein kinase 6 pseudogene 3 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 11 Neighboring gene A-kinase anchoring protein 11 Neighboring gene fumarate hydratase pseudogene 1 Neighboring gene fatty acid binding protein 3 pseudogene 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder.
    NHGRI GWA Catalog
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    NHGRI GWA Catalog
    A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
    NHGRI GWA Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    NHGRI GWA Catalog
    Genome-wide Interrogation of Longitudinal FEV1 in Children with Asthma.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ26505, FLJ30408, FLJ30865, FLJ33272, DKFZp761I1510

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    NAD+ kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    diacylglycerol kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    diacylglycerol kinase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    diacylglycerol kinase activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    platelet activation TAS
    Traceable Author Statement
    more info
     
    protein complex oligomerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein kinase C-activating G-protein coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    diacylglycerol kinase eta
    Names
    DAG kinase eta
    diglyceride kinase eta
    NP_001191433.1
    NP_001191434.1
    NP_001191435.1
    NP_001284358.1
    NP_690874.2
    NP_821077.1

    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.

    Genomic

    1. NG_029191.3 RefSeqGene

      Range
      13673..207862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001204504.2NP_001191433.1  diacylglycerol kinase eta isoform 1

      See identical proteins and their annotated locations for NP_001191433.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AB078968, AK289546, AK302727, AL136527, BC043292, BM978856
      Consensus CDS
      CCDS9382.1
      UniProtKB/Swiss-Prot
      Q86XP1
      UniProtKB/TrEMBL
      A8K0I1
      Related
      ENSP00000368576.3, ENST00000379274.6
      Conserved Domains (6) summary
      smart00109
      Location:248293
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00045
      Location:770927
      DAGKa; Diacylglycerol kinase accessory domain (presumed)
      smart00046
      Location:334456
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
      cd00029
      Location:176225
      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 ...
      cd13274
      Location:67163
      PH_DGK_type2; Type 2 Diacylglycerol kinase Pleckstrin homology (PH) domain
      pfam00169
      Location:67156
      PH; PH domain
    2. NM_001204505.2NP_001191434.1  diacylglycerol kinase eta isoform 3

      See identical proteins and their annotated locations for NP_001191434.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and contains two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (3) has a shorter N-terminus and a distinct C-terminus, and is shorter than isoform 1.
      Source sequence(s)
      AB078967, AK302727, AL136527, BC043292, BM978856
      Consensus CDS
      CCDS55898.1
      UniProtKB/Swiss-Prot
      Q86XP1
      Related
      ENSP00000445114.2, OTTHUMP00000278636, ENST00000536612.3, OTTHUMT00000482333
      Conserved Domains (7) summary
      smart00109
      Location:112157
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00454
      Location:10121091
      SAM; Sterile alpha motif
      smart00045
      Location:634791
      DAGKa; Diacylglycerol kinase accessory domain (presumed)
      smart00046
      Location:198320
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
      cd00029
      Location:4089
      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 ...
      cl15755
      Location:10111091
      SAM_superfamily; SAM (Sterile alpha motif )
      cl17171
      Location:127
      PH-like; Pleckstrin homology-like domain
    3. NM_001204506.2NP_001191435.1  diacylglycerol kinase eta isoform 4

      See identical proteins and their annotated locations for NP_001191435.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) has a shorter N-terminus and a distinct C-terminus, and is shorter than isoform 1.
      Source sequence(s)
      AB078967, AK302727, AL136527, BC043292, BM978856
      Consensus CDS
      CCDS55899.1
      UniProtKB/Swiss-Prot
      Q86XP1
      Related
      ENSP00000485809.1, OTTHUMP00000278633, ENST00000628433.2, OTTHUMT00000482330
      Conserved Domains (7) summary
      cd09576
      Location:10111075
      SAM_DGK-eta; SAM domain of diacylglycerol kinase eta
      smart00109
      Location:112157
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00454
      Location:10121075
      SAM; Sterile alpha motif
      smart00045
      Location:634791
      DAGKa; Diacylglycerol kinase accessory domain (presumed)
      smart00046
      Location:198320
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
      cd00029
      Location:4089
      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 ...
      cl17171
      Location:127
      PH-like; Pleckstrin homology-like domain
    4. NM_001297429.1NP_001284358.1  diacylglycerol kinase eta isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, two exons in the central coding region, and an in-frame exon in the 3' coding region, compared to variant 1. It initiates translation at an alternate downstream start codon. The encoded isoform (5) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK302631, AK302727, AL136527, AL139328, BC043292, BM978856
      UniProtKB/Swiss-Prot
      Q86XP1
      UniProtKB/TrEMBL
      B4DYW1
      Conserved Domains (2) summary
      smart00045
      Location:525682
      DAGKa; Diacylglycerol kinase accessory domain (presumed)
      smart00046
      Location:89211
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
    5. NM_152910.5NP_690874.2  diacylglycerol kinase eta isoform 1

      See identical proteins and their annotated locations for NP_690874.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AB078967, AK302631, AL136527, BC043292, BM978856, DR002010
      Consensus CDS
      CCDS9382.1
      UniProtKB/Swiss-Prot
      Q86XP1
      UniProtKB/TrEMBL
      B4DYW1
      Related
      ENSP00000261491.4, OTTHUMP00000018326, ENST00000261491.9, OTTHUMT00000044696
      Conserved Domains (6) summary
      smart00109
      Location:248293
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00045
      Location:770927
      DAGKa; Diacylglycerol kinase accessory domain (presumed)
      smart00046
      Location:334456
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
      cd00029
      Location:176225
      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 ...
      cd13274
      Location:67163
      PH_DGK_type2; Type 2 Diacylglycerol kinase Pleckstrin homology (PH) domain
      pfam00169
      Location:67156
      PH; PH domain
    6. NM_178009.4NP_821077.1  diacylglycerol kinase eta isoform 2

      See identical proteins and their annotated locations for NP_821077.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB078968, AK302727, AL136527, BC043292, BM978856, DR002010
      Consensus CDS
      CCDS9381.1
      UniProtKB/Swiss-Prot
      Q86XP1
      Related
      ENSP00000337572.4, OTTHUMP00000178584, ENST00000337343.8, OTTHUMT00000044699
      Conserved Domains (8) summary
      cd09576
      Location:11471211
      SAM_DGK-eta; SAM domain of diacylglycerol kinase eta
      smart00109
      Location:248293
      C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
      smart00454
      Location:11481211
      SAM; Sterile alpha motif
      smart00045
      Location:770927
      DAGKa; Diacylglycerol kinase accessory domain (presumed)
      smart00046
      Location:334456
      DAGKc; Diacylglycerol kinase catalytic domain (presumed)
      cd00029
      Location:176225
      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 ...
      cd13274
      Location:67163
      PH_DGK_type2; Type 2 Diacylglycerol kinase Pleckstrin homology (PH) domain
      pfam00169
      Location:67156
      PH; PH domain

    RNA

    1. NR_123714.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks multiple 5' exons, contains an alternate 5' terminal exon, and uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5' most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK122909, AK302631, AK302727, AL136527, AL139328, BC043292, BM978856
    2. NR_123715.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks multiple 5' exons, contains three alternate 5' terminal exons, contains an alternate internal exon, uses an alternate splice site in an internal exon, and differs in the 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5' most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK302727, AL136527, AL139328, BC044822
      Related
      ENST00000498255.6

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      42040036..42256584
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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