Human Gene FBXW4 (uc001kto.3) Description and Page Index
Description: Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA. RefSeq Summary (NM_022039): 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]. CCDS Note: The coding region has been updated to extend the N-terminus and this extension is supported by conservation data. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF281859.1, SRR1163655.35849.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000331272.9/ ENSP00000359149.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr10:103,370,421-103,454,743 Size: 84,323 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr10:103,371,048-103,454,397 Size: 83,350 Coding Exon Count: 9
ID:FBXW4_HUMAN DESCRIPTION: RecName: Full=F-box/WD repeat-containing protein 4; AltName: Full=Dactylin; AltName: Full=F-box and WD-40 domain-containing protein 4; FUNCTION: 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. SUBUNIT: Part of a SCF (SKP1-cullin-F-box) protein ligase complex (By similarity). TISSUE SPECIFICITY: Expressed in brain, kidney, lung and liver. DISEASE: Defects in FBXW4 are a cause of split-hand/foot malformation type 3 (SHFM3) [MIM:246560]. SHFM3 is an autosomal dominant disorder characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits. SIMILARITY: Contains 1 F-box domain. SIMILARITY: Contains 4 WD repeats. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FBXW4";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P57775
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.