FBXO7

F-box only protein 7 is a protein that in humans is encoded by the FBXO7 gene.[5][6][7][8] Mutations in FBXO7 have been associated with Parkinson's disease.[9][10]

FBXO7
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesFBXO7, FBX, FBX07, FBX7, PARK15, PKPS, F-box protein 7
External IDsOMIM: 605648 MGI: 1917004 HomoloGene: 8136 GeneCards: FBXO7
Orthologs
SpeciesHumanMouse
Entrez

25793

69754

Ensembl

ENSG00000100225

ENSMUSG00000001786

UniProt

Q9Y3I1

Q3U7U3

RefSeq (mRNA)

NM_001033024
NM_001257990
NM_012179

NM_153195
NM_001310745
NM_001347151

RefSeq (protein)

NP_001028196
NP_001244919
NP_036311

NP_001297674
NP_001334080
NP_694875

Location (UCSC)Chr 22: 32.47 – 32.5 MbChr 10: 85.86 – 85.89 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[8]

Interactions

FBXO7 has been shown to interact with SKP1A,[11] CUL1,[5][12] CDK6,[13] p27,[13] PI31,[12] Parkin,[14] and PINK1.[14]

References
  1. GRCh38: Ensembl release 89: ENSG00000100225 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000001786 - 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. Cenciarelli C, Chiaur DS, Guardavaccaro D, Parks W, Vidal M, Pagano M (October 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.
  6. Winston JT, Koepp DM, Zhu C, Elledge SJ, Harper JW (October 1999). "A family of mammalian F-box proteins". Current Biology. 9 (20): 1180–2. doi:10.1016/S0960-9822(00)80021-4. PMID 10531037.
  7. Di Fonzo A, Dekker MC, Montagna P, Baruzzi A, Yonova EH, Correia Guedes L, Szczerbinska A, Zhao T, Dubbel-Hulsman LO, Wouters CH, de Graaff E, Oyen WJ, Simons EJ, Breedveld GJ, Oostra BA, Horstink MW, Bonifati V (January 2009). "FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome". Neurology. 72 (3): 240–5. doi:10.1212/01.wnl.0000338144.10967.2b. PMID 19038853. S2CID 25948572.
  8. "Entrez Gene: FBXO7 F-box protein 7".
  9. Shojaee S, Sina F, Banihosseini SS, Kazemi MH, Kalhor R, Shahidi GA, Fakhrai-Rad H, Ronaghi M, Elahi E (June 2008). "Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays". American Journal of Human Genetics. 82 (6): 1375–84. doi:10.1016/j.ajhg.2008.05.005. PMC 2427312. PMID 18513678.
  10. Di Fonzo A, Dekker MC, Montagna P, Baruzzi A, Yonova EH, Correia Guedes L, Szczerbinska A, Zhao T, Dubbel-Hulsman LO, Wouters CH, de Graaff E, Oyen WJ, Simons EJ, Breedveld GJ, Oostra BA, Horstink MW, Bonifati V (January 2009). "FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome". Neurology. 72 (3): 240–5. doi:10.1212/01.wnl.0000338144.10967.2b. PMID 19038853. S2CID 25948572.
  11. Cenciarelli C, Chiaur DS, Guardavaccaro D, Parks W, Vidal M, Pagano M (October 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.
  12. Kirk R, Laman H, Knowles PP, Murray-Rust J, Lomonosov M, Meziane el K, McDonald NQ (August 2008). "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. doi:10.1074/jbc.M709900200. PMID 18495667.
  13. Laman H, Funes JM, Ye H, Henderson S, Galinanes-Garcia L, Hara E, Knowles P, McDonald N, Boshoff C (September 2005). "Transforming activity of Fbxo7 is mediated specifically through regulation of cyclin D/cdk6". The EMBO Journal. 24 (17): 3104–16. doi:10.1038/sj.emboj.7600775. PMC 1201355. PMID 16096642.
  14. Burchell VS, Nelson DE, Sanchez-Martinez A, Delgado-Camprubi M, Ivatt RM, Pogson JH, Randle SJ, Wray S, Lewis PA, Houlden H, Abramov AY, Hardy J, Wood NW, Whitworth AJ, Laman H, Plun-Favreau H (September 2013). "The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy". Nature Neuroscience. 16 (9): 1257–65. doi:10.1038/nn.3489. PMC 3827746. PMID 23933751.


Further reading
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.