Description: Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA. RefSeq Summary (NM_001190274): This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]. Transcript (Including UTRs) Position: hg19 chr2:48,034,059-48,132,932 Size: 98,874 Total Exon Count: 23 Strand: - Coding Region Position: hg19 chr2:48,035,257-48,132,859 Size: 97,603 Coding Exon Count: 23
ID:FBX11_HUMAN DESCRIPTION: RecName: Full=F-box only protein 11; AltName: Full=Vitiligo-associated protein 1; Short=VIT-1; FUNCTION: Substrate recognition component of the a (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins. Binds to and neddylates phosphorylated p53/TP53, inhibiting its transcriptional activity. SCF(FBXO11) does not seem to direct ubiquitination of TP53. PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Component of the probable SCF(FBXWO11) complex consisting of CUL1, RBX1, SKP1 and FBXO11. Interacts with TP53. INTERACTION: P63208:SKP1; NbExp=2; IntAct=EBI-1047804, EBI-307486; P04637:TP53; NbExp=4; IntAct=EBI-1047804, EBI-366083; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Isoform 5 is expressed in keratinocytes, fibroblasts and melanocytes. SIMILARITY: Contains 1 F-box domain. SIMILARITY: Contains 19 PbH1 repeats. SIMILARITY: Contains 1 UBR-type zinc finger. SEQUENCE CAUTION: Sequence=AAF76888.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=AAN76518.1; Type=Frameshift; Positions=141; Sequence=AAY24083.1; Type=Erroneous gene model prediction; Sequence=BAB15143.1; Type=Erroneous initiation;
otitis media Segade, F. et al. 2006, Association of the FBXO11 Gene With Chronic Otitis Media With Effusion and Recurrent Otitis Media, Arch Otolaryngol Head Neck Surg 2006 132(7) 729-33.
[PubMed 16847180]
We have observed evidence consistent with an association between polymorphisms in FBXO11, the human homologue of the Jeff mouse model gene, and COME/ROM.
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 Q86XK2
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004842 ubiquitin-protein transferase activity GO:0005515 protein binding GO:0008270 zinc ion binding GO:0016274 protein-arginine N-methyltransferase activity GO:0046872 metal ion binding
Biological Process: GO:0000209 protein polyubiquitination GO:0006464 cellular protein modification process GO:0006511 ubiquitin-dependent protein catabolic process GO:0007605 sensory perception of sound GO:0016567 protein ubiquitination GO:0035246 peptidyl-arginine N-methylation GO:0043687 post-translational protein modification
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
