FBXL4

F-box and leucine-rich repeat protein 4 is a protein that in humans is encoded by the FBXL4 gene.^[5]

FBXL4
Identifiers
Aliases	FBXL4, FBL4, FBL5, MTDPS13, F-box and leucine-rich repeat protein 4, F-box and leucine rich repeat protein 4
External IDs	OMIM: 605654; MGI: 2140367; HomoloGene: 8128; GeneCards: FBXL4; OMA:FBXL4 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q16.1-q16.2 Start 98,868,535 bp[1] End 98,948,006 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 A3 Start 22,357,543 bp[2] End 22,434,091 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis Achilles tendon islet of Langerhans caput epididymis tail of epididymis Epithelium of choroid plexus stromal cell of endometrium gastrocnemius muscle right adrenal cortex muscle of thigh Top expressed in superior cervical ganglion parotid gland submandibular gland triceps brachii muscle white adipose tissue vastus lateralis muscle muscle of thigh otolith organ utricle interventricular septum More reference expression data BioGPS n/a
Gene ontology Molecular function ubiquitin-protein transferase activity Cellular component cytoplasm mitochondrial intermembrane space mitochondrion nucleus ubiquitin ligase complex cytosol nuclear speck SCF ubiquitin ligase complex Biological process ubiquitin-dependent protein catabolic process protein polyubiquitination post-translational protein modification SCF-dependent proteasomal ubiquitin-dependent protein catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26235 269514 Ensembl ENSG00000112234 ENSMUSG00000040410 UniProt Q9UKA2 Q8BH70 RefSeq (mRNA) NM_001278716 NM_012160 NM_172988 RefSeq (protein) NP_001265645 NP_036292 NP_766576 Location (UCSC) Chr 6: 98.87 – 98.95 Mb Chr 4: 22.36 – 22.43 Mb PubMed search [3] [4]
Wikidata
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Structure

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 at least 9 tandem leucine-rich repeats.^[5]

Clinical significance

Mutations in this gene cause early-onset mitochondrial encephalomyopathy.^[6][7]