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

General

basic leucine zipper (bZIP) family protein phosphoprotein

Properties

SIZE: entity length = 852 aa MW = 93 kD COMPARTMENT: cell nucleus MOTIF: Ser phosphorylation site {S23} Ser phosphorylation site {S25} proline-rich region SITE: 387-394 MOTIF: proline residue (SEVERAL) proline-rich region SITE: 409-417 MOTIF: proline residue (SEVERAL) Thr phosphorylation site {T509} Ser phosphorylation site {S556} DNA-binding motif SITE: 648-662 helix-loop-helix NAME: helix-loop-helix SITE: 688-702 FOR-BINDING-VIA: helix-loop-helix leucine zipper SITE: 703-724 FOR-BINDING-VIA: leucine zipper

Database Correlations

OMIM 605678 UniProt Q9NP71 Pfam PF00010 Entrez Gene 51085 Kegg hsa:51085

References

UniProt :accession Q96I51