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The protein encoded by this gene is an enzyme that phosphorylates diacylglycerol, converting it to phosphatidic acid. The encoded protein is a membrane protein and is inhibited by hydrogen peroxide. Variations in this gene have been associated with hypospadias. [provided by RefSeq, Mar 2011]
DGKK (Diacylglycerol Kinase Kappa) is a Protein Coding gene. Diseases associated with DGKK include Hypospadias and Nephrotic Syndrome, Type 7. Among its related pathways are Phospholipase D signaling pathway and RET signaling. Gene Ontology (GO) annotations related to this gene include NAD+ kinase activity and diacylglycerol kinase activity. An important paralog of this gene is DGKD.
Diacylglycerol kinases (DGKs) are a group of ten enzymes that metabolize 1,2,diacylglycerol (DAG) to produce phosphatidic acid (PA). They all contain a conserved C'-terminal catalytic domain and two cysteine-rich Zn2+-finger motifs with varied regulatory domains.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ050470 | Promoter/Enhancer | 1.6 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | -0.2 | -150 | 1.6 | ZSCAN4 POLR2A EZH2 KLF9 TAF1 SP2 ZBTB48 ZBTB26 TFDP1 ZFHX2 | DGKK lnc-DGKK-1 lnc-SHROOM4-3 SHROOM4 | |
GH0XJ050430 | Enhancer | 0.9 | Ensembl ENCODE | 0.3 | +39.6 | 39593 | 2.1 | GATAD2A KDM1A RCOR2 RBFOX2 CEBPA SOX13 TCF7 FOXA2 TEAD1 KDM6A | piR-57135-149 lnc-DGKK-1 DGKK CCNB3 | |
GH0XJ050462 | Enhancer | 0.5 | Ensembl | 0.4 | +8.1 | 8050 | 1.6 | ZNF512 PRDM1 NFE2 MCM5 ZNF366 ZNF680 | DGKK lnc-DGKK-1 piR-57135-149 CCNB3 | |
GH0XJ050432 | Enhancer | 0.6 | ENCODE | 0.3 | +37.7 | 37655 | 1.7 | TEAD4 RBFOX2 SOX13 TCF7 DRAP1 SMAD4 CHD4 NFIL3 RARA KDM1A | piR-57135-149 lnc-DGKK-1 DGKK CCNB3 | |
GH0XJ050456 | Enhancer | 0.4 | Ensembl | 0.4 | +13.6 | 13550 | 1.4 | CTCF CEBPG ATF4 ATF3 | DGKK lnc-DGKK-1 piR-57135-149 CCNB3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003951 | NAD+ kinase activity | IEA | -- |
GO:0004143 | diacylglycerol kinase activity | IDA | 16210324 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016301 | kinase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005886 | plasma membrane | IDA,TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by GPCR | ||
2 | Phospholipase D signaling pathway | ||
3 | RET signaling | ||
4 | Response to elevated platelet cytosolic Ca2+ |
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5 | Glycerolipid metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006979 | response to oxidative stress | IDA | 16210324 |
GO:0007165 | signal transduction | IEA | -- |
GO:0007205 | protein kinase C-activating G protein-coupled receptor signaling pathway | IEA | -- |
GO:0016310 | phosphorylation | IEA | -- |
GO:0030168 | platelet activation | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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Diglycerides Group A |
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Diglycerides Group B |
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Diglycerides Group C |
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Diglycerides Group D |
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PA(16:0/16:0) |
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7091-44-3 |
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Compound | Action | Cas Number |
---|---|---|
Dioctanoylglycol | Diacylglycerol kinase inhibitor | 627-86-1 |
R 59-022 | Diacylglycerol kinase inhibitor; increases PKC activity | 93076-89-2 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
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Chimpanzee (Pan troglodytes) |
Mammalia | DGKK 30 |
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Dog (Canis familiaris) |
Mammalia | DGKK 30 |
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Cow (Bos Taurus) |
Mammalia | DGKK 30 |
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Rat (Rattus norvegicus) |
Mammalia | Dgkk 30 |
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Mouse (Mus musculus) |
Mammalia | Dgkk 30 17 |
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Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2361 30 |
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SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
714433 | Likely Benign: not provided | 50,470,064(-) | G/GGGCGAT | INFRAME_INSERTION | |
719275 | Benign: not provided | 50,376,824(-) | C/T | MISSENSE_VARIANT | |
719559 | Benign: not provided | 50,470,545(-) | AGCGGCGGAGCCG/A | INFRAME_DELETION | |
725513 | Likely Benign: not provided | 50,369,028(-) | G/GA | INTRON_VARIANT | |
727699 | Benign: not provided | 50,470,362(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1075728 | CNV | deletion | 25765185 |
nsv1141063 | CNV | deletion | 24896259 |
nsv508771 | CNV | insertion | 20534489 |
nsv523598 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
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hypospadias |
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nephrotic syndrome, type 7 |
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ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 |
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cryptorchidism, unilateral or bilateral |
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