FBXW4

F-box/WD repeat-containing protein 4 is a protein that in humans is encoded by the FBXW4 gene.^[5][6][7]

AliasesFBXW4, DAC, FBW4, FBWD4, SHFM3, SHSF3, F-box and WD repeat domain containing 4

External IDsOMIM: 608071; MGI: 1354698; HomoloGene: 32197; GeneCards: FBXW4; OMA:FBXW4 - orthologs

Chr.Chromosome 10 (human)^[1]

End101,695,295 bp^[1]

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FBXW4
Identifiers
Aliases	FBXW4, DAC, FBW4, FBWD4, SHFM3, SHSF3, F-box and WD repeat domain containing 4
External IDs	OMIM: 608071; MGI: 1354698; HomoloGene: 32197; GeneCards: FBXW4; OMA:FBXW4 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q24.32 Start 101,610,664 bp[1] End 101,695,295 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 C3|19 38.75 cM Start 45,566,693 bp[2] End 45,648,751 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in C1 segment apex of heart amygdala putamen inferior ganglion of vagus nerve muscle layer of sigmoid colon gastrocnemius muscle muscle of thigh subthalamic nucleus gastric mucosa Top expressed in secondary oocyte primary oocyte zygote retinal pigment epithelium granulocyte choroid plexus of fourth ventricle muscle of thigh neural layer of retina superior frontal gyrus dentate gyrus of hippocampal formation granule cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ubiquitin-protein transferase activity protein binding molecular function Cellular component ubiquitin ligase complex cytosol SCF ubiquitin ligase complex Biological process multicellular organism development embryonic digit morphogenesis cartilage development positive regulation of mesenchymal cell proliferation Wnt signaling pathway embryonic limb morphogenesis ubiquitin-dependent protein catabolic process limb development protein polyubiquitination SCF-dependent proteasomal ubiquitin-dependent protein catabolic process post-translational protein modification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6468 30838 Ensembl ENSG00000107829 ENSMUSG00000040913 UniProt P57775 Q9JMJ2 RefSeq (mRNA) NM_022039 NM_001323541 NM_013907 RefSeq (protein) NP_001310470 NP_071322 NP_038935 Location (UCSC) Chr 10: 101.61 – 101.7 Mb Chr 19: 45.57 – 45.65 Mb PubMed search [3] [4]
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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.^[7]