DGKE - diacylglycerol kinase epsilon Gene

Also Known as DGK; AHUS7; DAGK5; DAGK6; NPHS7

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 8526

About DGKE

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:56,834,151-56,869,567 (from NCBI)

This gene has 6 transcripts (splice variants), 212 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.8), spleen (RPKM 3.2) and 25 other tissues.

Summary

Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008]

DGKE Products (1)

mRNA	Protein	Name
NM_003647.3	NP_003638.1	diacylglycerol kinase epsilon

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables ATP-dependent diacylglycerol kinase activity	IDA IDA: Inferred from direct assay	15544348	GOA
enables kinase activity	IDA IDA: Inferred from direct assay	18004883	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in diacylglycerol metabolic process	IDA IDA: Inferred from direct assay	15544348	GOA
involved in lipid phosphorylation	IDA IDA: Inferred from direct assay	15544348	GOA
involved in phosphatidic acid biosynthetic process	IDA IDA: Inferred from direct assay	15544348	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cytoplasm	IDA IDA: Inferred from direct assay	23542698	GOA
located in membrane	IDA IDA: Inferred from direct assay	19744926	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DGKE Protein Structure

C1_1

DAGK_cat

DAGK_acc

0
100
200
300
400
500
567 a.a.

Protein Preferred Names	Protein Names
diacylglycerol kinase epsilon	DAG kinase epsilon

関連疾患

Diseases	Alias
Nephrotic Syndrome, Type 7	Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7 NPHS7 Nephrotic Syndrome Type 7 Ig-Mediated Membranoproliferative Glomerulonephritis Ig-Mediated Mpgn Immunoglobulin-Mediated Mpgn Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis Hemolytic Uremic Syndrome, Atypical 7 Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis Hemolytic Uremic Syndrome With Dgke Deficiency Hus With Dgke Deficiency Hemolytic Uremic Syndrome Atypical 7 AHUS7 Nephrotic Syndrome 7 Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome Haemolytic-Uraemic Syndrome Hus Acute Renal Failure, Thrombocytopenia, And Microangiopathic Hemolytic Anemia Associated With Distorted Erythrocytes Typical Haemolytic Uraemic Syndrome Gasser Syndrome Hus - [Haemolytic Uraemic Syndrome]
D-Minus Hemolytic Uremic Syndrome	Atypical Hus Atypical Hemolytic Uremic Syndrome Hus, Atypical Ahus
Hemolytic Uremic Syndrome, Atypical 1	Atypical Hemolytic-Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To Ahus AHUS1 Hemolytic-Uremic Syndrome Ahus 1 Ahus, Susceptibility To, 1 Hemolytic Uremic Syndrome, Atypical Non-Shiga-Like Toxin-Associated Hus Non-Stx-Hus Nonenteropathic Hus Atypical Hus Shiga Toxin-Associated Hemolytic Uremic Syndrome D+ Hus Ehec-Hus Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli Hemolytic Uremic Syndrome With Diarrhea Stec-Hus Shiga-Like Toxin-Associated Hus Stx-Hus Typical Hus Typical Hemolytic Uremic Syndrome Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies Atypical Hus With Anti-Factor H Antibodies Ahus With Anti-Factor H Antibodies Ahus With Neutralizing Autoantibodies Against Factor H Hemolytic Uremic Syndrome Atypical 1 Atypical Hemolytic Uremic Syndrome With H Factor Anomaly D Hus Hemolytic-Uremic Syndrome Without Diarrhea Hemolytic-Uremic Syndrome, Atypical, Type 1 Hemolytic Uremic Syndrome, Typical
Membranoproliferative Glomerulonephritis	Mesangiocapillary Glomerulonephritis Dense Deposit Disease Membranoproliferative Glomerulonephritis Type 2 Primary Membranoproliferative Glomerulonephritis Mesangiocapillary Glomerulonephritis, Type Ii Glomerulonephritis, Membranoproliferative Chronic Glomerulonephritis, Lobular Lobular Glomerulonephritis Ddd Glomerulonephritis Membranoproliferative Type 2 Mpgn 2 Membranoproliferative Glomerulonephritis Type Ii Mesangiocapillary Glomerulonephritis Type 2 Mpgn Primary Mpgn Glomerulonephritis Membranoproliferative Membranoproliferative Glomerulonephritis, Type Ii
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Complement Deficiency	Complement Deficiency Disease Hereditary Complement Deficiency Diseases
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Methylmalonic Aciduria And Homocystinuria, Cblc Type	MAHCC Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic Methylmalonic Aciduria And Homocystinuria Type Cblc Cobalamin C Disease Methylmalonic Acidemia With Homocystinuria Cblc Methylmalonic Acidemia And Homocystinuria, Cblc Type Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive Cobalamin C Deficiency Methylmalonic Acidemia With Homocystinuria, Type Cblc Cblc Defect Cobalamin C Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc Methylmalonic Aciduria With Homocystinuria, Type Cblc Methylmalonic Acidemia And Homocystinuria Cblc Type Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive Aciduria, Methylmalonic, And Homocystinuria, Cblc Type Methylmalonic Acidemia With Homocystinuria
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	MCPH2 Primary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations Microcephaly, Primary Autosomal Recessive, 2
Malignant Hypertension	Hypertension, Malignant Hypertension Malignant
Exudative Glomerulonephritis
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Diabetes Insipidus, Nephrogenic, Autosomal NDI2 Diabetes Insipidus, Nephrogenic, Type Ii Diabetes Insipidus, Nephrogenic, 2 Nephrogenic Diabetes Insipidus Type 2 Autosomal Nephrogenic Diabetes Insipidus-2 Diabetes Insipidus, Nephrogenic Type 2 ANDI Diabetes Insipidus Nephrogenic Type 2 Doid:0081061 Nephrogenic Diabetes Insipidus Congenital Nephrogenic Diabetes Insipidus Adh-Resistant Diabetes Insipidus
Thrombotic Thrombocytopenic Purpura	Purpura, Thrombotic Thrombocytopenic Ttp Thrombotic Thrombocytopenic Purpura, Acquired Idiopathic Thrombotic Thrombocytopenic Purpura Moschcowitz Disease Moschcowitz'S Syndrome Moschowitz Syndrome Chronic Relapsing Thrombotic Thrombocytopenic Purpura Familial Thrombotic Thrombocytopenia Purpura Moschkowitz Disease Purpura Thrombotic Thrombocytopenic Familial Thrombotic Thrombocytopenic Purpura Microangiopathic Hemolytic Anemia Congenital Thrombotic Thrombocytopenic Purpura Autoimmune Thrombotic Thrombocytopenic Purpura Ttp - [Thrombotic Thrombocytopenic Purpura] Moschcowitz Syndrome
Kanzaki Disease	Alpha-N-Acetylgalactosaminidase Deficiency Type 2 Naga Deficiency Type 2 Schindler Disease, Type Ii Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency Schindler Disease Type 2 Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset Naga Deficiency, Type Ii Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset KANZD Naga Deficiency Type Ii Schindler Disease Type Ii
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS03718	DGKE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	DGKE	VGNC	VGNC:71784
Canis familiaris	DGKE	VGNC	VGNC:39918
Rattus norvegicus	DGKE	RGD	RGD:1560914
Felis catus	DGKE	VGNC	VGNC:98906
Mus musculus	DGKE	MGD	MGI:1889276
Bos taurus	DGKE	VGNC	VGNC:28027
Others	DGKE	NCBI