Function
Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter brings them to the SCF complex for ubiquitination. Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NFE2L1, NOTCH2, MCL1, MLST8, RICTOR, and probably PSEN1.
Biological Context
Subcellular Location: Nucleus, nucleolus
Tissue Specificity: Expressed in brain
Disease Association: Developmental delay, hypotonia, and impaired language (DEDHIL) : An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, language difficulties, hypotonia, and gastrointestinal problems. Brain imaging shows variable structural abnormalities affecting the cerebellum, corpus collosum, and white matter. [The disease is caused by variants affecting the gene represented in this entry]
Pathway: Protein modification; protein ubiquitination
Product Specifications
Recombinant Human F-box/WD repeat-containing protein 7 (FBXW7) Protein is a recombinant protein from Homo sapiens(Human), expressed in in vitro E.coli expression system, covering amino acids 1-707aa, with N-terminal 6xHis-tagged tag, molecular weight 83.7kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
