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FBXL4

From Wikipedia, the free encyclopedia

FBXL4
Identifiers
AliasesFBXL4, FBL4, FBL5, MTDPS13, F-box and leucine-rich repeat protein 4, F-box and leucine rich repeat protein 4
External IDsOMIM: 605654; MGI: 2140367; HomoloGene: 8128; GeneCards: FBXL4; OMA:FBXL4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001278716
NM_012160

NM_172988

RefSeq (protein)

NP_001265645
NP_036292

NP_766576

Location (UCSC)Chr 6: 98.87 – 98.95 MbChr 4: 22.36 – 22.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Structure

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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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112234Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040410Ensembl, 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. ^ a b "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

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