FBXL5
F-box and leucine rich repeat protein 5
Summary
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 Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12512883 | 4:15,617,658 | C/T | intron variant | — |
| rs13147590 | 4:15,621,188 | A/T | — | — |
| rs141842445 | 4:15,626,941 | T/A | — | uncertain significance |
| rs756049105 | 4:15,627,031 | T/G | — | uncertain significance |
| rs199810959 | 4:15,627,127 | C/A | — | uncertain significance |
| rs777161956 | 4:15,627,155 | C/T | — | uncertain significance |
| rs2475421791 | 4:15,627,323 | G/C | — | uncertain significance |
| rs2475422404 | 4:15,627,348 | T/C | — | uncertain significance |
| rs144957766 | 4:15,627,380 | C/T | — | uncertain significance |
| rs536319399 | 4:15,627,434 | A/T | — | uncertain significance |
| rs143237149 | 4:15,629,579 | C/T | — | uncertain significance |
| rs764719880 | 4:15,629,605 | C/T | — | uncertain significance |
| rs533287883 | 4:15,629,606 | G/A | — | uncertain significance |
| rs757820250 | 4:15,629,644 | T/C | — | uncertain significance |
| rs2475487061 | 4:15,632,358 | C/T | — | uncertain significance |
| rs2475487654 | 4:15,632,378 | G/A | — | uncertain significance |
| rs2475570081 | 4:15,638,176 | G/T | — | uncertain significance |
| rs777776661 | 4:15,638,203 | C/T | — | uncertain significance |
| rs138225245 | 4:15,638,225 | G/A | — | uncertain significance |
| rs201844741 | 4:15,638,237 | T/C | — | uncertain significance |
| rs374329849 | 4:15,638,249 | C/T | — | uncertain significance |
| rs1299748042 | 4:15,646,190 | T/A | — | uncertain significance |
| rs7657257 | 4:15,646,941 | G/T | — | — |
| rs1716748759 | 4:15,656,903 | G/A | — | uncertain significance |
| rs138089032 | 4:15,662,884 | A/G | intron variant | — |
| rs1789 | 4:15,664,535 | G/T | — | — |
| rs145693864 | 4:15,665,000 | T/C | intron variant | — |
| rs12644327 | 4:15,665,083 | T/A | intron variant | — |
| rs551293140 | 4:15,668,832 | A/C | — | — |
| rs75628417 | 4:15,674,564 | C/T | intron variant | — |
| rs10030313 | 4:15,674,814 | G/T | — | — |
| rs148897867 | 4:15,681,655 | T/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.