MLXIPL

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. [provided by RefSeq]

MLX interacting protein-like

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

Anatomical structure morphogenesis Source: ProtInc
Energy homeostasis Source: UniProtKB
Fatty acid homeostasis Source: UniProtKB
Glucose homeostasis Source: BHF-UCL
Glucose mediated signaling pathway Source: BHF-UCL
Negative regulation of oxidative phosphorylation Source: BHF-UCL
Negative regulation of peptidyl-serine phosphorylation Source: BHF-UCL
Negative regulation of transcription, DNA-templated Source: BHF-UCL
Positive regulation of cell population proliferation Source: BHF-UCL
Positive regulation of fatty acid biosynthetic process Source: BHF-UCL
Positive regulation of glycolytic process Source: BHF-UCL
Positive regulation of lipid biosynthetic process Source: BHF-UCL
Positive regulation of transcription, DNA-templated Source: BHF-UCL
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Regulation of transcription, DNA-templated Source: BHF-UCL
Regulation of transcription by RNA polymerase II Source: GO_Central
Triglyceride homeostasis Source: BHF-UCL

Nucleus

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.

Phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity.