FBXO7

FBXO7
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4L9C, 4L9H
Identifiers
Aliases	FBXO7 , FBX, FBX07, FBX7, PARK15, PKPS, F-box protein 7
External IDs	OMIM: 605648 MGI: 1917004 HomoloGene: 8136 GeneCards: FBXO7
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q12.3 Start 32,474,676 bp [1] End 32,498,829 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10|10 C1 Start 85,857,836 bp [2] End 85,887,737 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spongy bone blood sperm corpus callosum bone marrow left lobe of thyroid gland middle frontal gyrus right lobe of thyroid gland monocyte inferior ganglion of vagus nerve Top expressed in otolith organ utricle blood spermatocyte proximal tubule kidney sciatic nerve hand bone marrow carotid body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding ubiquitin-protein transferase activity protein kinase binding ubiquitin protein ligase binding ubiquitin binding protein heterodimerization activity Cellular component cytoplasm ubiquitin ligase complex mitochondrion nucleus cytosol SCF ubiquitin ligase complex glial cytoplasmic inclusion classical Lewy body Lewy neurite Lewy body core Lewy body corona protein-containing complex Biological process negative regulation of G1/S transition of mitotic cell cycle protein targeting to mitochondrion negative regulation of lymphocyte differentiation autophagy of mitochondrion regulation of protein stability negative regulation of cyclin-dependent protein serine/threonine kinase activity regulation of locomotion protein polyubiquitination regulation of neuron projection development protein ubiquitination negative regulation of oxidative stress-induced neuron death negative regulation of neuron death positive regulation of autophagy of mitochondrion negative regulation of hydrogen peroxide-induced neuron death post-translational protein modification ubiquitin-dependent protein catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 10: 85.86 – 85.89 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]}

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

• Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP (December 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi: 10.1038/990031 . PMID   10591208.
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (March 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi: 10.1073/pnas.97.7.3491 . PMC   16267 . PMID   10737800.
• Ilyin GP, Rialland M, Pigeon C, Guguen-Guillouzo C (July 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.
• Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Tsou AP, Yang CW, Huang CY, Yu RC, Lee YC, Chang CW, Chen BR, Chung YF, Fann MJ, Chi CW, Chiu JH, Chou CK (January 2003). "Identification of a novel cell cycle regulated gene, HURP, overexpressed in human hepatocellular carcinoma". Oncogene. 22 (2): 298–307. doi: 10.1038/sj.onc.1206129 . PMID   12527899.
• Collins JE, Goward ME, Cole CG, Smink LJ, Huckle EJ, Knowles S, Bye JM, Beare DM, Dunham I (January 2003). "Reevaluating human gene annotation: a second-generation analysis of chromosome 22". Genome Research. 13 (1): 27–36. doi:10.1101/gr.695703. PMC   430954 . PMID   12529303.
• Hsu JM, Lee YC, Yu CT, Huang CY (July 2004). "Fbx7 functions in the SCF complex regulating Cdk1-cyclin B-phosphorylated hepatoma up-regulated protein (HURP) proteolysis by a proline-rich region". The Journal of Biological Chemistry. 279 (31): 32592–602. doi: 10.1074/jbc.M404950200 . PMID   15145941.
• Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biology. 5 (10): R84. doi: 10.1186/gb-2004-5-10-r84 . PMC   545604 . PMID   15461802.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC   528930 . PMID   15489336.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.
• Chang YF, Cheng CM, Chang LK, Jong YJ, Yuo CY (April 2006). "The F-box protein Fbxo7 interacts with human inhibitor of apoptosis protein cIAP1 and promotes cIAP1 ubiquitination" (PDF). Biochemical and Biophysical Research Communications. 342 (4): 1022–6. doi:10.1016/j.bbrc.2006.02.061. PMID   16510124.
• Liu Y, Hedvat CV, Mao S, Zhu XH, Yao J, Nguyen H, Koff A, Nimer SD (April 2006). "The ETS protein MEF is regulated by phosphorylation-dependent proteolysis via the protein-ubiquitin ligase SCFSkp2". Molecular and Cellular Biology. 26 (8): 3114–23. doi:10.1128/MCB.26.8.3114-3123.2006. PMC   1446966 . PMID   16581786.