Carbohydrate-responsive element-binding protein

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MLX interacting protein-like
Identifiers
Symbols MLXIPL ; CHREBP; MIO; MONDOB; WBSCR14; WS-bHLH; bHLHd14
External IDs OMIM605678 MGI1927999 HomoloGene32507 GeneCards: MLXIPL Gene
RNA expression pattern
PBB GE MLXIPL 221163 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 51085 58805
Ensembl ENSG00000009950 ENSMUSG00000005373
UniProt Q9NP71 Q99MZ3
RefSeq (mRNA) NM_032951 NM_021455
RefSeq (protein) NP_116569 NP_067430
Location (UCSC) Chr 7:
73.01 – 73.04 Mb
Chr 5:
135.11 – 135.14 Mb
PubMed search [1] [2]

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.[1][2] 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.[2]

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.[2]

Interactions[edit]

MLXIPL has been shown to interact with MLX.[3]

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. ^ 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. doi:10.1007/s004390050874. PMID 9860302. 
  2. ^ a b c "Entrez Gene: MLXIPL MLX interacting protein-like". 
  3. ^ 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. doi:10.1093/hmg/10.6.617. PMID 11230181. 

Further reading[edit]