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]
^ abcGRCh38: Ensembl release 89: ENSG00000112234 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000040410 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ab"Entrez Gene: F-box and leucine-rich repeat protein 4".
^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. PMC3769923. PMID 23993194.
^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. PMC3769921. PMID 23993193.
Further readingedit
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. 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. 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. PMC3162406. 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. PMC138887. PMID 11178263.
fbxl4, leucine, rich, repeat, protein, protein, that, humans, encoded, gene, identifiersaliases, fbl4, fbl5, mtdps13, leucine, rich, repeat, protein, leucine, rich, repeat, protein, 4external, idsomim, 605654, 2140367, homologene, 8128, genecards, gene, locati. F box and leucine rich repeat protein 4 is a protein that in humans is encoded by the FBXL4 gene 5 FBXL4IdentifiersAliasesFBXL4 FBL4 FBL5 MTDPS13 F box and leucine rich repeat protein 4 F box and leucine rich repeat protein 4External IDsOMIM 605654 MGI 2140367 HomoloGene 8128 GeneCards FBXL4Gene location Human Chr Chromosome 6 human 1 Band6q16 1 q16 2Start98 868 535 bp 1 End98 948 006 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 4 A3Start22 357 543 bp 2 End22 434 091 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed incorpus epididymisAchilles tendonislet of Langerhanscaput epididymisstromal cell of endometriumgastrocnemius musclemonocyteleft adrenal glandgerminal epitheliumtibiaTop expressed insuperior cervical ganglionparotid glandsubmandibular glandtriceps brachii musclewhite adipose tissuevastus lateralis muscleotolith organutricleinterventricular septumgastrocnemius muscleMore reference expression dataBioGPSn aGene ontologyMolecular functionubiquitin protein transferase activityCellular componentcytoplasm mitochondrial intermembrane space mitochondrion nucleus ubiquitin ligase complex cytosol nuclear speck SCF ubiquitin ligase complexBiological processubiquitin dependent protein catabolic process protein polyubiquitination post translational protein modification SCF dependent proteasomal ubiquitin dependent protein catabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez26235269514EnsemblENSG00000112234ENSMUSG00000040410UniProtQ9UKA2Q8BH70RefSeq mRNA NM 001278716NM 012160NM 172988RefSeq protein NP 001265645NP 036292NP 766576Location UCSC Chr 6 98 87 98 95 MbChr 4 22 36 22 43 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Structure 2 Clinical significance 3 References 4 Further readingStructure editThis 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 editMutations in this gene cause early onset mitochondrial encephalomyopathy 6 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000112234 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000040410 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene F box and leucine rich repeat protein 4 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 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 editIlyin 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 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 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 nbsp This article on a gene on human chromosome 6 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title FBXL4 amp oldid 1188012241, wikipedia, wiki, book, books, library,
