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  3. MLXIPL

MLXIPL (MLX interacting protein like)

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Summary of MLXIPL

The gene codes for a protein, MLX interacting protein like. Deletion of this gene results in Williams-Beuren syndrome, a multisystem developmental disorder [R].

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The Function of MLXIPL

Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3'.

Protein names

Recommended name:

Carbohydrate-responsive element-binding protein

Alternative name(s):

ChREBP
Class D basic helix-loop-helix protein 14
bHLHd14
MLX interactor
MLX-interacting protein-like
WS basic-helix-loop-helix leucine zipper protein
WS-bHLH
Williams-Beuren syndrome chromosomal region 14 protein

MLXIPL SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS12666883 (MLXIPL) ??
  2. RS13226650 (MLXIPL) ??
  3. RS13247874 (MLXIPL) ??
  4. RS17145750 (MLXIPL) ??
  5. RS3812316 (MLXIPL) ??
  6. RS7800944 (MLXIPL) ??
  7. RS9638182 (MLXIPL) ??

Top Gene-Substance Interactions

MLXIPL Interacts with These Diseases

Disease Score

Substances That Increase MLXIPL

Substances Interaction Organism Category

Substances That Decrease MLXIPL

Substances Interaction Organism Category

Advanced Summary

     Covered on Genetics Home Reference: Williams syndromeFrom NCBI Gene: Williams syndromeFrom UniProt: WBSCR14 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

     From NCBI Gene: 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] From UniProt: Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3'.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • Max
  • PPAR-alpha
  • HNF-4alpha1
  • HNF-4alpha2
  • c-Myc

Tissue specificity:

Expressed in liver, heart, kidney, cerebellum and intestinal tissues.

Gene Pathways:

  • Metabolism

Molecular Function:

  • Carbohydrate Response Element Binding
  • Dna Binding
  • Protein Heterodimerization Activity
  • Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Dna Binding
  • Transcriptional Repressor Activity, Rna Polymerase Ii Core Promoter Proximal Region Sequence-Specific Binding
  • Transcription Factor Activity, Sequence-Specific Dna Binding
  • Transcription Factor Binding

Biological Processes:

  • Anatomical Structure Morphogenesis
  • Cellular Response To Carbohydrate Stimulus
  • Fatty Acid Homeostasis
  • Glucose Homeostasis
  • Glucose Mediated Signaling Pathway
  • Intracellular Signal Transduction
  • Negative Regulation Of Cell Cycle Arrest
  • Negative Regulation Of Oxidative Phosphorylation
  • Negative Regulation Of Peptidyl-Serine Phosphorylation
  • Negative Regulation Of Transcription, Dna-Templated
  • Positive Regulation Of Cell Proliferation
  • Positive Regulation Of Fatty Acid Biosynthetic Process
  • Positive Regulation Of Glycolytic Process
  • Positive Regulation Of Lipid Biosynthetic Process
  • Positive Regulation Of Transcription, Dna-Templated
  • Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
  • Regulation Of Energy Homeostasis
  • Regulation Of Transcription, Dna-Templated
  • Regulation Of Transcription From Rna Polymerase Ii Promoter
  • Transcription, Dna-Templated
  • Triglyceride Homeostasis
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| B-cell CLL/lymphoma 7 protein family member B| mlxip| A306_06642| bHLHd14| carbohydrate response element binding protein| carbohydrate response element protein| carbohydrate responsive element binding protein| Carbohydrate-responsive element-binding protein| carbohydrate-responsive element-binding protein isoform alpha| carbohydrate-responsive element-binding protein-like| CHREBP| class D basic helix-loop-helix protein 14| H920_03125| I79_007247| M91_01060| M959_11282| Max-like protein| MIO| MLX| MLX interacting protein-like| MLX interacting protein-like beta| MLX interacting protein-like protein| MLX interactor| MONDOB| N300_07250| N302_02610| N305_14088| N307_07433| N308_03134| N309_06168| PAL_GLEAN10012001| putative hepatic transcription factor| putative MLX interacting protein-like| Transducin beta-like 2| Transducin beta-like protein 2| TREES_T100021541| WBSCR14| WBSCR14 protein-like| Williams-Beuren syndrome chromosomal region 14 protein| Williams-Beuren syndrome chromosomal region 14 protein homolog| Williams-Beuren syndrome chromosomal region 14 protein isoform alpha| Williams-Beuren syndrome chromosomal region 14 protein-like| Williams-Beuren syndrome chromosomal region 14 protein like protein| Williams Beuren syndrome chromosome region 14| Williams-Beuren syndrome chromosome region 14 homolog| Williams-Beuren syndrome chromosome region 14 protein 1| Williams-Beuren syndrome chromosome region 14 protein 2| Williams-Beuren syndrome chromosome region 14 protein 3| WS basic-helix-loop-helix leucine zipper protein| WS-bHLH| Y1Q_008429| mlxipl

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