Williams-Beuren syndrome chromosomal region 13 protein; transducin beta-like protein 2; WS beta-transducin repeats protein; WS-betaTRP (TBL2, WBSCR13, UNQ563/PRO1125)

Function: - phosphorylated upon DNA damage, probably by ATM or ATR Structure: contains 7 WD repeats Pathology: - WBSCR13 locus in the Williams-Beuren syndrome critical region - haploinsufficiency of WBSCR13 may be the cause of certain cardiovascular & musculoskeletal abnormalities observed in the Williams-Beuren syndrome

General

DNA-binding protein phosphoprotein

Properties

SIZE: entity length = 447 aa MW = 50 kD COMPARTMENT: cell nucleus MOTIF: WD repeat {88-127} WD repeat {134-174} WD repeat {186-226} WD repeat {228-267} WD repeat {277-316} WD repeat {329-367} WD repeat {371-409} Thr phosphorylation site {T433}

Database Correlations

OMIM 605842 UniProt Q9Y4P3 Pfam PF00400 Entrez Gene 26608 Kegg hsa:26608

References

UniProt :accession Q9Y4P3