FBXO7 (original) (raw)

From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

FBXO7
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes4L9C, 4L9H
Identifiers
Aliases FBXO7, FBX, FBX07, FBX7, PARK15, PKPS, F-box protein 7
External IDs OMIM: 605648; MGI: 1917004; HomoloGene: 8136; GeneCards: FBXO7; OMA:FBXO7 - orthologs
Gene location (Human)Chromosome 22 (human)Chr.Chromosome 22 (human)[1]Chromosome 22 (human)Genomic location for FBXO7Genomic location for FBXO7Band22q12.3Start32,474,676 bp[1]End32,498,829 bp[1]
Gene location (Mouse)Chromosome 10 (mouse)Chr.Chromosome 10 (mouse)[2]Chromosome 10 (mouse)Genomic location for FBXO7Genomic location for FBXO7Band10|10 C1Start85,857,836 bp[2]End85,887,737 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed intrabecular bonebloodspermcorpus callosumbone marrowleft lobe of thyroid glandright testismiddle frontal gyrusC1 segmentleft testisTop expressed inright kidneyotolith organutriclebloodspermatocyteproximal tubulehuman kidneysciatic nervehandbone marrowMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular 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
OrthologsSpeciesHuman MouseEntrez2579369754EnsemblENSG00000100225ENSMUSG00000001786UniProtQ9Y3I1Q3U7U3RefSeq (mRNA)NM_001033024NM_001257990NM_012179NM_153195NM_001310745NM_001347151RefSeq (protein)NP_001028196NP_001244919NP_036311NP_001297674NP_001334080NP_694875Location (UCSC)Chr 22: 32.47 – 32.5 MbChr 10: 85.86 – 85.89 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/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]

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]

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100225 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b 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. Bibcode:1999CBio....9.1177C. 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. Bibcode:1999CBio....9.1180W. 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. ^ a b "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. Bibcode:1999CBio....9.1177C. doi:10.1016/S0960-9822(00)80020-2. PMID 10531035.
  12. ^ a b 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. ^ a b 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. ^ a b 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.