Williams-Beuren syndrome chromosomal region 14 protein; carbohydrate-responsive element-binding protein; 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 (MLXIPL, BHLHD14, MIO, WBSCR14)

Function

• transcriptional repressor
• binds to the canonical & non-canonical E box sequences 5'-CACGTG-3' (putative)
• phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity (putative)
• binds DNA as a heterodimer with TCFL4/MLX

Structure

contains 1 basic helix-loop-helix (bHLH) domain

Compartment

nucleus

Alternative splicing

• named isoforms=6
• at least one isoform may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay

Expression

• expressed in liver, heart, kidney, cerebellum & intestine

Pathology

• WBSCR14 locus in the Williams-Beuren syndrome critical region
• haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular & musculoskeletal abnormalities observed in the Williams-Beuren syndrome

More general terms

• basic leucine zipper (bZIP) family protein
• phosphoprotein

Additional terms

• Williams-Beuren syndrome; Williams syndrome

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=51085
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:51085
• OMIM: https://mirror.omim.org/entry/605678
• UniProt: http://www.uniprot.org/uniprot/Q9NP71.html