MLXIPL
Function
Binds DNA as a heterodimer with MLX/TCFL4 and activates transcription. Binds to the canonical E box sequence 5'-CACGTG-3'. Plays a role in transcriptional activation of glycolytic target genes. Involved in glucose-responsive gene regulation (By similarity). Regulates transcription in response to changes in cellular carbohydrate abundance such as occurs during fasting to feeding metabolic transition. Refeeding stimulates MLXIPL/ChREBP transcription factor, leading to increased BCKDK to PPM1K expression ratio, phosphorylation and activation of ACLY that ultimately results in the generation of malonyl-CoA and oxaloacetate immediate substrates of de novo lipogenesis and gluconeogenesis, respectively (By similarity).
Involvement in disease
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.
Post-translational modifications
Phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity.
Tissue Specificity
Expressed in liver, heart, kidney, cerebellum and intestinal tissues.
Cellular localization
- Nucleus
Alternative names
BHLHD14, MIO, WBSCR14, MLXIPL, Carbohydrate-responsive element-binding protein, ChREBP, Class D basic helix-loop-helix protein 14, MLX interactor, MLX-interacting protein-like, WS basic-helix-loop-helix leucine zipper protein, Williams-Beuren syndrome chromosomal region 14 protein, bHLHd14, WS-bHLH