DGKE - diacylglycerol kinase epsilon Gene

中文名称：二酰甘油激酶ε

种属: Homo sapiens

同用名: DGK; AHUS7; DAGK5; DAGK6; NPHS7

基因 ID: 8526 | 基因类型: protein coding

关于 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.

功能概要

在细胞信号转导过程中，二酰甘油激酶被认为主要参与 PI 循环中从二酰甘油再生磷脂酰肌醇 (PI) 的过程。当在哺乳动物细胞中表达时，DGK-epsilon 对含花生四烯基的甘油二酯表现出特异性。 DGK-epsilon 主要在睾丸中表达。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables ATP-dependent diacylglycerol kinase activity	IDA IDA: 通过直接分析推断	15544348	GOA
enables kinase activity	IDA IDA: 通过直接分析推断	18004883	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in diacylglycerol metabolic process	IDA IDA: 通过直接分析推断	15544348	GOA
involved in lipid phosphorylation	IDA IDA: 通过直接分析推断	15544348	GOA
involved in phosphatidic acid biosynthetic process	IDA IDA: 通过直接分析推断	15544348	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	23542698	GOA
located in membrane	IDA IDA: 通过直接分析推断	19744926	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

DGKE 蛋白结构

C1_1

DAGK_cat

DAGK_acc

0
100
200
300
400
500
567 a.a.

蛋白主名

其他名称

diacylglycerol kinase epsilon

DAG kinase epsilon

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03718	DGKE Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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