Entrez Summary: This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008].
UniProt Summary: Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling.
Pfam DomainsGO Terms
Pfam Domains
F-box-like
WD40
GO Terms
SCF ubiquitin ligase complex
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
ubiquitin ligase complex
embryonic limb morphogenesis
embryonic appendage morphogenesis
limb morphogenesis
appendage morphogenesis
limb development
appendage development
protein polyubiquitination
proteasome-mediated ubiquitin-dependent protein catabolic process
proteasomal protein catabolic process
Wnt signaling pathway
cell-cell signaling by wnt
post-translational protein modification
cell surface receptor signaling pathway involved in cell-cell signaling
ubiquitin-dependent protein catabolic process
modification-dependent protein catabolic process
modification-dependent macromolecule catabolic process
embryonic morphogenesis
proteolysis involved in cellular protein catabolic process
cellular protein catabolic process
protein catabolic process
protein ubiquitination
protein modification by small protein conjugation
cellular macromolecule catabolic process
embryo development
protein modification by small protein conjugation or removal
macromolecule catabolic process
organonitrogen compound catabolic process
cell-cell signaling
proteolysis
organic substance catabolic process
cellular catabolic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)