Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	139189
Gene name	Diacylglycerol kinase kappa
Gene symbol	DGKK
Synonyms (NCBI Gene)	-
Chromosome	X
Chromosome location	Xp11.22
Summary	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 hyposp

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IBA
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IDA	16210324
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	IEA
GO:0004143	Function	ATP-dependent diacylglycerol kinase activity	TAS
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16210324
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IBA
GO:0006979	Process	Response to oxidative stress	IDA	16210324
GO:0007165	Process	Signal transduction	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030168	Process	Platelet activation	IEA
GO:0030168	Process	Platelet activation	TAS
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IDA	16210324
GO:0046339	Process	Diacylglycerol metabolic process	IBA
GO:0046339	Process	Diacylglycerol metabolic process	IDA	16210324
GO:0046486	Process	Glycerolipid metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
300837	32395	ENSG00000274588

Q5KSL6

Protein name

Diacylglycerol kinase kappa (DAG kinase kappa) (DGK-kappa) (EC 2.7.1.107) (142 kDa diacylglycerol kinase) (Diglyceride kinase kappa)

Protein function

Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:16210324, PubMed:23949095). Thereby, acts as a central switch between the si

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00169	PH	217 → 309	PH domain	Domain
PF00130	C1_1	399 → 452	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
PF00781	DAGK_cat	491 → 613	Diacylglycerol kinase catalytic domain	Family
PF00609	DAGK_acc	857 → 1014	Diacylglycerol kinase accessory domain	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis, and to a lesser extent in placenta. {ECO:0000269|PubMed:16210324}.

Sequence

MDRGAAAAQGTAPPQDGEQPAESPEPPPPWPPPPPPPAPPPAPPLLSEASPEPIPEPCPE
LAPGPCPEATSESATELYTEPTPEPATEPASEPAPEPATEPAPEPATEPAPEPAPEPATE
SAPEPTPEPALESVPEPAPELTPEVAPELAPEPTPEPVTELAPEFCPEAAPEFRPSPAPC
LLQCPVDTRERGLKTSPSPSPSPSPRTPMSWSRIKKILKEGPMLKNCNSFKRWKLRYFLV
QGQKLYFAHHPAFAHFETIDLSQATVAESSCRNLCHSFCVITPQRKITLAAPNRKDMEEW
INIIKTIQQGEIYKIPAAENNPFLVGMHCWYSSYSHRTQHCNVCRESIPALSRDAIICEV
CKVKSHRLCALRASKDCKWNTLSITDDLLLPADEVNMPHQWVEGNMPVSSQCAVCHESCG
SYQRLQDFRCLWCNSTVHDDCRRRFSKECCFRSHRSSVIPPTALSDPKGDGQLVVSSDFW
NLDWSSACSCPLLIFINSKSGDHQGIVFLRKFKQYLNPSQVFDLLKGGPEAGLSMFKNFA
RFRILVCGGDGSVSWVLSLIDAFGLHEKCQLAVIPLGTGNDLARVLGWGAFWNKSKSPLD
ILNRVEQASVRILDRWSVMIRETPRQTPLLKGQVEMDVPRFEAAAIQHLESAATELNKIL
KAKYPTEMIIATRFLCSAVEDFVVDIVKAWGQIKQNNTAIVSVILKSDLMYDRLSVLIDV
LAEEAAATSAEKSATEYADSSKADRKPFIPQIDHIAKCKLELATKAQSLQKSLKLIIFQV
EQALDEESRQTISVKNFSSTFFLEDDPEDINQTSPRRRSRRGTLSSISSLKSEDLDNLNL
DHLHFTPESIRFKEKCVMNNYFGIGLDAKISLDFNTRRDEHPGQYNSRLKNKMWYGLLGT
KELLQRSYRKLEERVHLECDGETISLPNLQGIVVLNITSYAGGINFWGSNTATTEYEAPA
IDDGKLEVVAIFGSVQMAMSRIINLHHHRIAQCHEVMITIDGEEGIPVQVDGEAWIQRPG
LIKIRYKNAAQMLTRDRDFENSMKMWEYKHTEIQAAPQPQLDFQDSQESLSDEEYAQMQH
LARLAENLISKLNDLSKIHQHVSVLMGSVNASANILNDIFYGQDSGNEMGAASCIPIETL
SRNDAVDVTFSLKGLYDDTTAFLDEKLLRSAEDETALQSALDAMNKEFKKLSEIDWMNPI
FVPEEKSSDTDSRSLRLKIKFPKLGKKKVEEERKPKSGQSVQSFIGNLWHRRHREDEAEG
DDPLTPSRSQL

Sequence length

1271

Interactions

View interactions

	KEGG		Reactome
	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways Phosphatidylinositol signaling system Phospholipase D signaling pathway Choline metabolism in cancer		Effects of PIP2 hydrolysis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
HYPOSPADIAS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (16)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorder	Autism	Pubtator	34893870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	27233938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36397165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	BEFREE	26692240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	31654503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	BEFREE	26692240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	27233938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	21113153, 23177175, 25327554, 28597849, 29464676, 31102501, 31654503		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	GWASDB_DG	21113153		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	CTD_human_DG	21113153, 27098078		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	Pubtator	23177175, 27098078, 28597849, 29464676	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	GWASCAT_DG	25108383		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	31754384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	21113153, 23177175, 25327554, 28597849, 29464676, 31102501, 31654503		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	26307654		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	BEFREE	26692240		★★★★★ ★☆☆☆☆ Found in Text Mining only

DGKK (diacylglycerol kinase kappa)