MLXIPL - MLX interacting protein like Gene

Also Known as MIO; MLX; CHREBP; MONDOB; WBSCR14; WS-bHLH; bHLHd14

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 51085

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables DNA-binding transcription activator activity IDA
IDA: Inferred from direct assay
21084751 GOA
enables DNA-binding transcription factor binding IDA
IDA: Inferred from direct assay
21084751 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
11230181 GOA
enables protein heterodimerization activity IPI
IPI: Inferred from physical interaction
11230181 GOA
NOT enables protein homodimerization activity IDA
IDA: Inferred from direct assay
11230181 GOA
Biological Process GO Annotation Evidence References Source
involved in lipid biosynthetic process IDA
IDA: Inferred from direct assay
21084751 GOA
involved in negative regulation of oxidative phosphorylation IMP
IMP: Inferred from mutant phenotype
19995986 GOA
involved in negative regulation of peptidyl-serine phosphorylation IMP
IMP: Inferred from mutant phenotype
19995986 GOA
involved in positive regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
19995986 GOA
involved in positive regulation of glycolytic process IMP
IMP: Inferred from mutant phenotype
19995986 GOA
involved in positive regulation of lipid biosynthetic process IMP
IMP: Inferred from mutant phenotype
19995986 GOA
Cellular Component GO Annotation Evidence References Source
located in chromatin IDA
IDA: Inferred from direct assay
21084751 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

MLXIPL Protein Structure

HLH

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

  • 0
  • 200
  • 400
  • 600
  • 800
  • 852 a.a.
Protein Preferred Names Protein Names

carbohydrate-responsive element-binding protein

  • Mlx interactor

Related Diseases

Diseases Alias
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
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 (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08505 MLXIPL Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21156 Mlxipl Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27672 Mlxipl Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others MLXIPL NCBI