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FLASH GENE
Symbol FBXO7 contributors: npt/ - updated : 28-06-2015
HGNC name F-box protein 7
HGNC id 13586
Corresponding disease
PARKPS Parkinsonian-pyramidal syndrome
Location 22q12.3      Physical location : 32.870.706 - 32.894.817
Synonym name F-box only protein 7
Synonym symbol(s) FBX7, FBX, PARK15, PKPS, DKFZp686B08113
DNA
TYPE functioning gene
STRUCTURE 24.11 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text several transcripts
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2153 - 522 - 2006 16510124
9 - 1758 - 443 - 2006 16510124
9 - 1910 - 408 - 2006 16510124
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepharynx   highly
Endocrinethyroid    
Nervousbrainbasal nucleicorpus callosum  
Reproductivefemale systemuteruscervix highly
 female systemplacenta  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Epithelialsecretoryglandularendocrine 
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N-terminal ubiquitin-like domain
  • a novel FP (Fbxo7/PI31) domain preceding the F-box motif
  • a 40 AA F-box motif, that can interact with the SKP1 component of the SCF protein complex
  • a proline- rich region for binding DLGAP5
  • a functional leucine-rich nuclear export sequence (NES), and which allowed binding to the nuclear export protein, exportin 1 (XPO1)
  • C-terminal proline-rich region
  • secondary structure
  • FBXO7 FP domain adopts an alpha/beta-fold similar to that of the PSMF1 FP domain
  • HOMOLOGY
    Homologene
    FAMILY
  • F-box protein family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • phosphorylating dependent ubiquination
  • mitotic regulator,inhibiting the anaphase promoting complex (cyclosome APC) and preventing mitotic exit in cytostatic factor (CSF) arrested eggs
  • participates in mitochondrial maintenance through direct interaction with PINK1 and Parkin and acts in Parkin-mediated mitophagy
  • CELLULAR PROCESS cell cycle, division, mitosis
    protein, ubiquitin dependent proteolysis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • putative component of a E3 ubiquitin protein ligase complex (SCF) with SKP1, CUL1, RBX1 bringing ubiquitin conjugating enzymes to substrates recruited by F-box
  • having functions in the regulation of mitophagy with PINK1 and Parkin
  • FP (FBXO7/PSMF1) domains found in the F-box protein FBXO7 and the proteasome inhibitor PSMF1 mediate the homodimerization and heterodimerization of FBXO7 and PSMF1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • BIRC2 interacting protein (can mediate the ubiquitination of BIRC2 by SCF ubiquitin protein ligase and thus have important implication in the regulation of BIRC2 function)
  • interacting with exportin 1 (XPO1)
  • SKP1 binding prevented FBXO7 from contacting XPO1
  • SKP1 can directly interact with FBXO7, a gene defective in PARK15-linked Parkinson disease
  • negative regulator of NFKB1 signalling
  • binds to, and mediates ubiquitin conjugation to BIRC2 and TRAF2, resulting in decreased RIPK1 ubiquitination and lowered NFKB1 signalling activity
  • functional relationship between FBXO7 and mitofusin 1
  • interacts with proteins that are not substrates of the ubiquitin proteasome system, such as CDK6 and PSMF1
  • FBXO7 ubiquitinated TOMM20, and its levels correlated with FBXO7 expression, indicating a stabilizing effect
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PARKPS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS