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DGKH diacylglycerol kinase, eta [ Homo sapiens (human) ]

Gene ID: 160851, updated on 7-Dec-2014
Official Symbol
DGKHprovided by HGNC
Official Full Name
diacylglycerol kinase, etaprovided by HGNC
Primary source
HGNC:HGNC:2854
Locus tag
RP11-215B13.1
See related
Ensembl:ENSG00000102780; HPRD:07237; 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]
See DGKH in Epigenomics, MapViewer
Location:
13q14.11
Exon count:
33
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 13 NC_000013.11 (42040036..42230216)
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 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 fumarate hydratase pseudogene 1 Neighboring gene A kinase (PRKA) anchor protein 11

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
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
phosphorylation IEA
Inferred from Electronic Annotation
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
protein kinase C-activating G-protein coupled receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein oligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
diacylglycerol kinase eta
Names
diacylglycerol kinase eta
DAG kinase eta
diglyceride kinase eta
NP_001191433.1
NP_001191434.1
NP_001191435.1
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_029191.2 

    Range
    5001..207862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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/TrEMBL
    A8K0I1
    UniProtKB/Swiss-Prot
    Q86XP1
    Related
    ENSP00000368576, ENST00000379274
    Conserved Domains (4) summary
    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
  2. NM_001204505.2NP_001191434.1  diacylglycerol kinase eta isoform 3

    See proteins identical to 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, ENST00000536612
    Conserved Domains (6) summary
    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 proteins identical to 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
    UniProtKB/Swiss-Prot
    Q86XP1
    Conserved Domains (6) summary
    cd09576
    Location:10111075
    SAM_DGK-eta; SAM domain of diacylglycerol kinase eta
    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/TrEMBL
    B4DYW1
    UniProtKB/Swiss-Prot
    Q86XP1
    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 proteins identical to 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/TrEMBL
    B4DYW1
    UniProtKB/Swiss-Prot
    Q86XP1
    Conserved Domains (4) summary
    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
  6. NM_178009.4NP_821077.1  diacylglycerol kinase eta isoform 2

    See proteins identical to 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, OTTHUMP00000178584, ENST00000337343, OTTHUMT00000044699
    Conserved Domains (6) summary
    cd09576
    Location:11471211
    SAM_DGK-eta; SAM domain of diacylglycerol kinase eta
    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

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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

    Range
    42040036..42230216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266271.1XP_005266328.1  

    Conserved Domains (2) summary
    smart00045
    Location:525682
    DAGKa; Diacylglycerol kinase accessory domain (presumed)
    smart00046
    Location:89211
    DAGKc; Diacylglycerol kinase catalytic domain (presumed)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

    Range
    42581819..42771353
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    23417019..23607148
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)