FBXL4

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
View/Edit Human View/Edit Mouse

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

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]}

References

1. GRCh38: Ensembl release 89: ENSG00000112234 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040410 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: F-box and leucine-rich repeat protein 4".
6. Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M (Sep 2013). "Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy". American Journal of Human Genetics. 93 (3): 482–95. doi:10.1016/j.ajhg.2013.07.016. PMC   3769923 . PMID   23993194.
7. Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW (Sep 2013). "Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance". American Journal of Human Genetics. 93 (3): 471–81. doi:10.1016/j.ajhg.2013.07.017. PMC   3769921 . PMID   23993193.

Further reading

• Ilyin GP, Rialland M, Pigeon C, Guguen-Guillouzo C (Jul 2000). "cDNA cloning and expression analysis of new members of the mammalian F-box protein family". Genomics. 67 (1): 40–7. doi:10.1006/geno.2000.6211. PMID   10945468.
• Cenciarelli C, Chiaur DS, Guardavaccaro D, Parks W, Vidal M, Pagano M (Oct 1999). "Identification of a family of human F-box proteins". Current Biology. 9 (20): 1177–9. Bibcode:1999CBio....9.1177C. doi: 10.1016/S0960-9822(00)80020-2 . PMID   10531035. S2CID   7467493.
• Winston JT, Koepp DM, Zhu C, Elledge SJ, Harper JW (Oct 1999). "A family of mammalian F-box proteins". Current Biology. 9 (20): 1180–2. Bibcode:1999CBio....9.1180W. doi: 10.1016/S0960-9822(00)80021-4 . PMID   10531037. S2CID   14341845.
• Van Rechem C, Black JC, Abbas T, Allen A, Rinehart CA, Yuan GC, Dutta A, Whetstine JR (Sep 2011). "The SKP1-Cul1-F-box and leucine-rich repeat protein 4 (SCF-FbxL4) ubiquitin ligase regulates lysine demethylase 4A (KDM4A)/Jumonji domain-containing 2A (JMJD2A) protein". The Journal of Biological Chemistry. 286 (35): 30462–70. doi: 10.1074/jbc.M111.273508 . PMC   3162406 . PMID   21757720.
• Kipreos ET, Pagano M (2000). "The F-box protein family". Genome Biology. 1 (5) REVIEWS3002. doi: 10.1186/gb-2000-1-5-reviews3002 . PMC   138887 . PMID   11178263.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.