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  3. TBC1D4 - TBC1 domain family member 4 Gene

TBC1D4 - TBC1 domain family member 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：TBC1 域家族成员 4

种属: Homo sapiens

同用名: AS160; NIDDM5

基因 ID: 9882 | 基因类型: protein coding

关于 TBC1D4

Cytogenetic location: 13q22.2 Genomic coordinates (GRCh38): 13:75,283,503-75,482,169 (from NCBI)

This gene has 8 transcripts (splice variants), 200 orthologues, 45 paralogues and is associated with 1 phenotype. Ubiquitous expression in adrenal (RPKM 28.9), ovary (RPKM 15.3) and 23 other tissues.

功能概要

该基因是 Tre-2/BUB2/CDC16 域家族的成员。该基因编码的蛋白质是一种 Rab-GTP 酶激活蛋白，包含两个磷酸酪氨酸结合结构域 (PTB1 和 PTB2) 、一个钙调蛋白结合结构域 (CBD) 、一个 Rab-GTP 酶结构域和多个 Akt 磷酸化基序。这种蛋白质被认为通过调节葡萄糖转运蛋白 4 (GLUT4) 的胰岛素依赖性运输在葡萄糖稳态中发挥重要作用，这对于将葡萄糖从血液中去除到骨骼肌和脂肪组织中很重要。该基因表达的减少导致质膜上 GLUT4 水平的增加，表明该蛋白质在基础条件下对 GLUT4 的细胞内保留很重要。当暴露于胰岛素时，这种蛋白质被磷酸化，从 GLUT4 囊泡中解离，导致细胞表面 GLUT4 增加，并增强葡萄糖转运。需要通过 Akt 磷酸化该蛋白质才能将 GLUT4 正确转运至细胞表面。该基因突变的纯合子个体患 2 型糖尿病的风险更高，并且在摄入葡萄糖后循环葡萄糖和胰岛素水平更高。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 8 月]

This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple Akt phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to Insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by Akt is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and Insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

TBC1D4 基因产物(3)

mRNA Protein Name
NM_001286658.2 NP_001273587.1 TBC1 domain family member 4 isoform 2
NM_001286659.2 NP_001273588.1 TBC1 domain family member 4 isoform 3
NM_014832.5 NP_055647.2 TBC1 domain family member 4 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
15161933 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to insulin stimulus IMP
IMP: 通过突变表型推断
22908308 GOA
involved in vesicle-mediated transport IMP
IMP: 通过突变表型推断
22908308 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

TBC1D4 蛋白结构

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (117 - 184)

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (344 - 440)

DUF3350

DUF3350: Domain of unknown function (DUF3350) (801 - 864)

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (924 - 1131)

  • 0
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  • 1000
  • 1200
  • 1298 a.a.
蛋白主名 其他名称

TBC1 domain family member 4

TBC (Tre-2, BUB2, CDC16) domain-containing protein

TBC1D4 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TBC1D4 O60343 YWHAZ Homo sapiens P63104
Pull Down
15161933
种属内
TBC1D4 O60343 YWHAE Homo sapiens P62258
Crosslink
36931259
种属内
TBC1D4 O60343 YWHAE Homo sapiens P62258
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

TBC1D4 抗体

目录号 产品名 应用 反应物种
HY-P82425 AS160 Antibody (YA2170) WB, IP Human

关联疾病

疾病名称 别名
Type 2 Diabetes 5

Diabetes Mellitus, Noninsulin-Dependent, 5

NIDDM5

T2D5

Diabetes Mellitus, Non-Insulin-Dependent, 5

Type 2 Diabetes Mellitus 5, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, Type 5
Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes
Acanthosis Nigricans

Keratosis Nigricans

An
Hyperinsulinism

Hyperinsulinemia
Donohue Syndrome

Leprechaunism

Leprechaunism Syndrome

Donohue'S Syndrome

LEPRCH
Diabetes Mellitus

Diabetes
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS14244 TBC1D4 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TBC1D4 RGD RGD:1561609
Macaca mulatta TBC1D4 VGNC VGNC:78166
Canis familiaris TBC1D4 VGNC VGNC:47149
Felis catus TBC1D4 VGNC VGNC:65988
Mus musculus TBC1D4 MGD MGI:2429660
Bos taurus TBC1D4 VGNC VGNC:35644
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