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  2. DGKH - diacylglycerol kinase eta Gene

DGKH - diacylglycerol kinase eta Gene

中文名称:二酰甘油激酶 eta

种属: Homo sapiens

同用名: DGKeta

基因 ID: 160851 | 基因类型: protein coding

关于 DGKH

Cytogenetic location: 13q14.11 Genomic coordinates (GRCh38): 13:42,040,070-42,256,584 (from NCBI)

This gene has 10 transcripts (splice variants), 220 orthologues and 9 paralogues. Ubiquitous expression in endometrium (RPKM 2.6), placenta (RPKM 1.9) and 24 other tissues.

功能概要

该基因编码二酰基甘油激酶 (DGK) 酶家族的成员。该家族的成员参与调节二酰甘油和磷脂酸的细胞内浓度。该基因的变异与躁郁症有关。已经鉴定出可变剪接的转录物变体。[RefSeq 提供,2014 年 7 月]

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]

DGKH 基因产物(6)

mRNA Protein Name
NM_001204504.3 NP_001191433.1 diacylglycerol kinase eta isoform 1
NM_001204505.3 NP_001191434.1 diacylglycerol kinase eta isoform 3
NM_001204506.3 NP_001191435.1 diacylglycerol kinase eta isoform 4
NM_001297429.2 NP_001284358.1 diacylglycerol kinase eta isoform 5
NM_152910.6 NP_690874.2 diacylglycerol kinase eta isoform 1
NM_178009.5 NP_821077.1 diacylglycerol kinase eta isoform 2
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
23949095 GOA
enables ATP-dependent diacylglycerol kinase activity IMP
IMP: 通过突变表型推断
12810723 GOA
enables SAM domain binding IDA
IDA: 通过直接分析推断
12810723 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
12810723 GOA
enables kinase binding IPI
IPI: 通过物理相互作用推断
12810723 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidic acid metabolic process IDA
IDA: 通过直接分析推断
23949095 GOA
involved in phospholipase C/protein kinase C signal transduction IMP
IMP: 通过突变表型推断
12810723 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
12810723 GOA
located in endosome IDA
IDA: 通过直接分析推断
12810723 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
12810723 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

DGKH 蛋白结构

PH

PH: PH domain (67 - 157)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (176 - 226)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (248 - 299)

DAGK_cat

DAGK_cat: Diacylglycerol kinase catalytic domain (332 - 457)

DAGK_acc

DAGK_acc: Diacylglycerol kinase accessory domain (770 - 927)

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (1151 - 1211)

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  • 1000
  • 1220 a.a.
蛋白主名 其他名称

diacylglycerol kinase eta

DAG kinase eta

关联疾病

疾病名称 别名
Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

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

直系同源

种属 基因名 来源 基因 ID
Felis catus DGKH VGNC VGNC:61460
Canis familiaris DGKH VGNC VGNC:39920
Macaca mulatta DGKH VGNC VGNC:71786
Bos taurus DGKH VGNC VGNC:28029
Rattus norvegicus DGKH RGD RGD:1561955
Mus musculus DGKH MGD MGI:2444188