Biology:FBXO7

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A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

F-box only protein 7 is a protein that in humans is encoded by the FBXO7 gene.[1][2][3][4] Mutations in FBXO7 have been associated with Parkinson's disease.[5][6]

Function

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 the 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 Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined.[4]

Interactions

FBXO7 has been shown to interact with SKP1A,[7] CUL1,[1][8] CDK6,[9] p27,[9] PI31,[8] Parkin,[10] and PINK1.[10]

References

  1. 1.0 1.1 "Identification of a family of human F-box proteins". Current Biology 9 (20): 1177–9. October 1999. doi:10.1016/S0960-9822(00)80020-2. PMID 10531035. 
  2. "A family of mammalian F-box proteins". Current Biology 9 (20): 1180–2. October 1999. doi:10.1016/S0960-9822(00)80021-4. PMID 10531037. 
  3. "FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome". Neurology 72 (3): 240–5. January 2009. doi:10.1212/01.wnl.0000338144.10967.2b. PMID 19038853. 
  4. 4.0 4.1 "Entrez Gene: FBXO7 F-box protein 7". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25793. 
  5. "Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays". American Journal of Human Genetics 82 (6): 1375–84. June 2008. doi:10.1016/j.ajhg.2008.05.005. PMID 18513678. 
  6. "FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome". Neurology 72 (3): 240–5. January 2009. doi:10.1212/01.wnl.0000338144.10967.2b. PMID 19038853. 
  7. "Identification of a family of human F-box proteins". Current Biology 9 (20): 1177–9. October 1999. doi:10.1016/S0960-9822(00)80020-2. PMID 10531035. 
  8. 8.0 8.1 "Structure of a conserved dimerization domain within the F-box protein Fbxo7 and the PI31 proteasome inhibitor". The Journal of Biological Chemistry 283 (32): 22325–35. August 2008. doi:10.1074/jbc.M709900200. PMID 18495667. 
  9. 9.0 9.1 "Transforming activity of Fbxo7 is mediated specifically through regulation of cyclin D/cdk6". The EMBO Journal 24 (17): 3104–16. September 2005. doi:10.1038/sj.emboj.7600775. PMID 16096642. 
  10. 10.0 10.1 "The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy". Nature Neuroscience 16 (9): 1257–65. September 2013. doi:10.1038/nn.3489. PMID 23933751. 


Further reading