Homo sapiens Gene: FBXW4
Summary
InnateDB Gene IDBG-87371.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FBXW4
Gene Name F-box and WD repeat domain containing 4
Synonyms DAC; FBW4; FBWD4; SHFM3; SHSF3
Species Homo sapiens
Ensembl Gene ENSG00000107829
Encoded Proteins
F-box and WD repeat domain containing 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:101610664-101695295
Strand Reverse strand
Band q24.32
Transcripts
ENST00000331272 ENSP00000359149
ENST00000457105
ENST00000470093
ENST00000482428
ENST00000489578
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 44 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 44 [view]
Protein-Protein 44 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005515 protein binding
Biological Process
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0016055 Wnt signaling pathway
GO:0030326 embryonic limb morphogenesis
GO:0042733 embryonic digit morphogenesis
GO:0051216 cartilage development
GO:0060173 limb development
Cellular Component
GO:0000151 ubiquitin ligase complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Association of TriC/CCT with target proteins during biosynthesis pathway
Protein folding pathway
Chaperonin-mediated protein folding pathway
Metabolism of proteins pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.736808
RefSeq NM_022039
HUGO
OMIM
CCDS CCDS31271
HPRD 06994
IMGT
EMBL
GenPept
RNA Seq Atlas