FBXL7
F-box and leucine rich repeat protein 7
Summary
This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs368852038 | 5:15,575,237 | A/G | — | — |
| rs1978633 | 5:15,582,005 | T/C | — | — |
| rs16867528 | 5:15,607,448 | C/T | upstream gene variant | — |
| rs2477840050 | 5:15,616,140 | A/G | — | uncertain significance |
| rs369736827 | 5:15,616,154 | G/T | — | uncertain significance |
| rs12659622 | 5:15,618,181 | G/A | intron variant | — |
| rs75002042 | 5:15,669,967 | T/A | intron variant | — |
| rs12652447 | 5:15,674,635 | G/T | — | — |
| rs6554893 | 5:15,690,530 | G/T | — | — |
| rs572451713 | 5:15,693,919 | G/A | — | — |
| rs4582274 | 5:15,735,030 | G/T | intron variant | — |
| rs1875215 | 5:15,763,181 | A/G | intron variant | — |
| rs10044254 | 5:15,783,596 | A/G | intron variant | — |
| rs765845939 | 5:15,928,056 | C/T | — | uncertain significance |
| rs748177035 | 5:15,928,089 | C/T | — | uncertain significance |
| rs200615738 | 5:15,928,154 | C/T | — | uncertain significance |
| rs746642404 | 5:15,928,296 | G/A | — | uncertain significance |
| rs367858636 | 5:15,928,316 | T/C | — | uncertain significance |
| rs371894909 | 5:15,928,432 | G/A | — | uncertain significance |
| rs1324560509 | 5:15,928,490 | A/G | — | uncertain significance |
| rs370550112 | 5:15,936,583 | G/A | — | uncertain significance |
| rs780230488 | 5:15,936,597 | G/A | — | uncertain significance |
| rs754889307 | 5:15,936,662 | C/A | — | uncertain significance |
| rs758947908 | 5:15,936,707 | C/G | — | uncertain significance |
| rs371934647 | 5:15,936,777 | G/A | — | likely benign |
| rs773659782 | 5:15,936,814 | G/A | — | uncertain significance |
| rs774426899 | 5:15,936,823 | G/A | — | uncertain significance |
| rs375745885 | 5:15,936,846 | C/T | — | uncertain significance |
| rs375930592 | 5:15,936,900 | G/A | — | uncertain significance |
| rs1187472492 | 5:15,936,904 | G/A | — | uncertain significance |
| rs764226941 | 5:15,936,925 | G/A | — | uncertain significance |
| rs2477659297 | 5:15,936,928 | A/T | — | uncertain significance |
| rs766340086 | 5:15,937,047 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.