Carbohydrate-responsive element-binding protein

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MLXIPL
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MLXIPL, CHREBP, MIO, MONDOB, WBSCR14, WS-bHLH, bHLHd14, MLX interacting protein like, MLX
External IDs MGI: 1927999 HomoloGene: 32507 GeneCards: MLXIPL
RNA expression pattern
PBB GE MLXIPL 221163 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032951
NM_032952
NM_032953
NM_032954
NM_032994

NM_021455

RefSeq (protein)

NP_116569
NP_116570
NP_116571
NP_116572

NP_067430

Location (UCSC) Chr 7: 73.59 – 73.62 Mb Chr 5: 135.09 – 135.14 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Carbohydrate-responsive element-binding protein (ChREBP) also known as MLX-interacting protein-like (MLXIPL) is a protein that in humans is encoded by the MLXIPL gene.[3][4] The protein name derives from the protein's interaction with carbohydrate response element sequences of DNA.

Function[edit]

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.[4]

Clinical significance[edit]

This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23.[4]

Interactions[edit]

MLXIPL has been shown to interact with MLX.[5]

Role in glycolysis[edit]

ChREBP is translocated to the nucleus and binds to DNA after dephosphorylation of a p-Ser and a p-Thr residue by PP2A, which itself is activated by Xylulose-5-phosphate. Xu5p is produced in the pentose phosphate pathway when levels of Glucose-6-phosphate are high (the cell has ample glucose). In the liver, ChREBP mediates activation of several regulatory enzymes of glycolysis and lipogenesis including L-type pyruvate kinase (L-PK), acetyl CoA carboxylase, and fatty acid synthase.

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Meng X, Lu X, Li Z, Green ED, Massa H, Trask BJ, Morris CA, Keating MT (Jan 1999). "Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes". Hum Genet. 103 (5): 590–9. PMID 9860302. doi:10.1007/s004390050874. 
  4. ^ a b c "Entrez Gene: MLXIPL MLX interacting protein-like". 
  5. ^ Cairo S, Merla G, Urbinati F, Ballabio A, Reymond A (March 2001). "WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network". Hum. Mol. Genet. 10 (6): 617–27. PMID 11230181. doi:10.1093/hmg/10.6.617. 

Further reading[edit]