2. Gene
  3. MLXIPL - MLX interacting protein like Gene

MLXIPL - MLX interacting protein like Gene

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

中文名称：MLX 相互作用蛋白

种属: Homo sapiens

同用名: MIO; MLX; CHREBP; MONDOB; WBSCR14; WS-bHLH; bHLHd14

基因 ID: 51085 | 基因类型: protein coding

关于 MLXIPL

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:73,593,202-73,647,907 (from NCBI)

This gene has 11 transcripts (splice variants), 197 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in fat (RPKM 35.0), liver (RPKM 27.7) and 8 other tissues.

功能概要

该基因编码 Myc/Max/Mad 超家族的基本螺旋-环-螺旋亮氨酸拉链转录因子。该蛋白质形成异二聚体复合物，并以葡萄糖依赖性方式结合并激活甘油三酯合成基因启动子中的碳水化合物反应元件 (ChoRE) 基序。该基因在 Williams-Beuren 综合征中被删除，这是一种多系统发育障碍，由染色体 7q11.23 的连续基因缺失引起。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 12 月]

This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

MLXIPL 基因产物(4)

mRNA Protein Name
NM_032951.3 NP_116569.1 carbohydrate-responsive element-binding protein isoform alpha
NM_032952.3 NP_116570.1 carbohydrate-responsive element-binding protein isoform beta
NM_032953.3 NP_116571.1 carbohydrate-responsive element-binding protein isoform gamma
NM_032954.3 NP_116572.1 carbohydrate-responsive element-binding protein isoform delta
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 DNA-binding transcription activator activity IDA
IDA: 通过直接分析推断
21084751 GOA
enables DNA-binding transcription factor binding IDA
IDA: 通过直接分析推断
21084751 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
11230181 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
11230181 GOA
NOT enables protein homodimerization activity IDA
IDA: 通过直接分析推断
11230181 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lipid biosynthetic process IDA
IDA: 通过直接分析推断
21084751 GOA
involved in negative regulation of oxidative phosphorylation IMP
IMP: 通过突变表型推断
19995986 GOA
involved in negative regulation of peptidyl-serine phosphorylation IMP
IMP: 通过突变表型推断
19995986 GOA
involved in positive regulation of cell population proliferation IMP
IMP: 通过突变表型推断
19995986 GOA
involved in positive regulation of glycolytic process IMP
IMP: 通过突变表型推断
19995986 GOA
involved in positive regulation of lipid biosynthetic process IMP
IMP: 通过突变表型推断
19995986 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
21084751 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

MLXIPL 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (650 - 704)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 852 a.a.
蛋白主名 其他名称

carbohydrate-responsive element-binding protein

Mlx interactor

关联疾病

疾病名称 别名
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws
Non-Alcoholic Fatty Liver Disease

Fatty Liver

Non-Alcoholic Fatty Liver

Nafld

Nonalcoholic Fatty Liver Disease

Nonalcoholic Steatohepatitis

Steatosis

Nafl

Nash

Non-Alcoholic Steatohepatitis

Susceptibility To Nonalcoholic Fatty Liver Disease

Steatohepatitis

Fatty Degeneration

Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

Nafld Without Nash

Nafld Without Mention Of Nash
Hepatocellular Adenoma

Adenoma Hepatocellular
Fructosuria, Essential

Essential Fructosuria

Ketohexokinase Deficiency

Fructosuria

Hepatic Fructokinase Deficiency

Fructokinase Deficiency

FRUCT

Deficiency Of Fructokinase
Fatty Liver Disease

Alcoholic Fatty Liver

Fatty Liver

Fatty Liver, Alcoholic

Fatty Change Of Liver

Hepatic Lipidosis

Steatosis Of Liver

Fatty Liver Alcoholic

Steatohepatitis

Etoh Fatty Liver

Etoh Fatty Liver Metamorphosis

Fatty Etoh Liver Necrosis
Non-Alcoholic Steatohepatitis

Nonalcoholic Steatohepatitis

Nash

Nash - [Non-Alcoholic Steatohepatitis]

Non-Alcoholic Steatohepatosis
Lipid Storage Disease

Lipoidosis

Inborn Lipid Storage Disorder

Lipoid Storage Diseas

Lipid Storage Diseases

Lipidoses
Glycogen Storage Disease Ia

Von Gierke Disease

Glycogen Storage Disease Type I

Glycogen Storage Disease I

Hepatorenal Form Of Glycogen Storage Disease

Hepatorenal Glycogenosis

Glucose-6-Phosphatase Deficiency

Glycogen Storage Disease, Type I

Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia

GSD1A

Gsd1

Von Gierke'S Disease

Glycogen Storage Disease Type 1a

Glycogen Storage Disease 1a

Glucose-6-Phosphate Transport Defect

Gsd Ia

Deficiency Of Glucose-6-Phosphatase

Glycogenosis Type I

Glucose-6-Phosphatase Deficiency Glycogen Storage Disease

Glycogenosis Type 1

Glucose-6-Phosphate Deficiency

Gsd I

Gsd Type I

G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type 1a

Gsd Due To G6p Deficiency Type Ia

Gsd Type 1a

Gsdia

Glycogen Storage Disease Due To G6p Deficiency Type Ia

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a

Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia

Glycogenosis Type Ia

Gsd-Ia

Storage Disease, Glycogen, Type 1a

Glycogen Storage Disease Type Ia
Lysosomal Storage Disease

Lysosomal Storage Diseases

Disorder Of Lysosomal Enzyme

Inborn Lysosomal Enzyme Disorder

Lysosomal Storage Metabolism Disorder

Lysosomal Storage Disorder
Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis
Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism
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
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08505 MLXIPL Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21156 Mlxipl Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27672 Mlxipl Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MLXIPL RGD RGD:620400
Felis catus MLXIPL VGNC VGNC:63530
Canis familiaris MLXIPL VGNC VGNC:43269
Macaca mulatta MLXIPL VGNC VGNC:81722
Mus musculus MLXIPL MGD MGI:1927999
Bos taurus MLXIPL VGNC VGNC:31510
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