FBXO7
entrez
25793
canonical
uniprot
Q9Y3I1
canonical
ensembl
ENSG00000100225
resolver
ensp
ENSP00000266087
resolver
ensp
ENSP00000380571
resolver
ensp
ENSP00000388547
resolver
genesymbol
FBXO7
resolver
genesymbol_syn
FBX7
resolver
hgnc
HGNC:13586
resolver
uniprot
B4DNB3
resolver
uniprot
B4DWX5
resolver
uniprot
Q5TGC4
resolver
uniprot
Q5TI86
resolver
uniprot
Q96HM6
resolver
uniprot
Q9UF21
resolver
uniprot
Q9UKT2
resolver
uniprot_entry
FBX7_HUMAN
resolver
uniprot_sec
B4DNB3
resolver
uniprot_sec
B4DWX5
resolver
uniprot_sec
Q5TGC4
resolver
uniprot_sec
Q5TI86
resolver
uniprot_sec
Q96HM6
resolver
uniprot_sec
Q9UF21
resolver
uniprot_sec
Q9UKT2
resolver
amino_acid_sequence
MRLRVRLLKRTWPLEVPETEPTLGHLRSHLRQSLLCTWGYSSNTRFTITLNYKDPLTGDEETLASYGIVSGDLICLILQDDIPAPNIPSSTDSEHSSLQNNEQPSLATSSNQTSMQDEQPSDSFQGQAAQSGVWNDDSMLGPSQNFEAESIQDNAHMAEGTGFYPSEPMLCSESVEGQVPHSLETLYQSADCSDANDALIVLIHLLMLESGYIPQGTEAKALSMPEKWKLSGVYKLQYMHPLCEGSSATLTCVPLGNLIVVNATLKINNEIRSVKRLQLLPESFICKEKLGENVANIYKDLQKLSRLFKDQLVYPLLAFTRQALNLPDVFGLVVLPLELKLRIFRLLDVRSVLSLSAVCRDLFTASNDPLLWRFLYLRDFRDNTVRVQDTDWKELYRKRHIQRKESPKGRFVMLLPSSTHTIPFYPNPLHPRPFPSSRLPPGIIGGEYDQRPTLPYVGDPISSLIPGPGETPSQFPPLRPRFDPVGPLPGPNPILPGRGGPNDRFPFRPSRGRPTDGRLSFM
uniprot
proteins
disease_involvement
DISEASE: Parkinson disease 15 (PARK15) [MIM:260300]: A neurodegenerative disorder characterized by parkinsonian and pyramidal signs. Clinical manifestations include tremor, bradykinesia, rigidity, postural instability, spasticity, mainly in the lower limbs, and hyperreflexia. {ECO:0000269|PubMed:18513678, ECO:0000269|PubMed:23933751, ECO:0000269|PubMed:32892229, ECO:0000269|PubMed:36646384}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins and plays a role in several biological processes such as cell cycle, cell proliferation, or maintenance of chromosome stability (PubMed:15145941, PubMed:34791250). Recognizes and ubiquitinates BIRC2 and the cell cycle regulator DLGAP5 (PubMed:15145941, PubMed:16510124, PubMed:22212761). Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination. Mediates the ubiquitination and proteasomal degradation of UXT isoform 2, thereby impairing the NF-kappa-B signaling pathway (PubMed:33010352). Inhibits NF-kappa-B pathway also by promoting the ubiquitination of TRAF2 (PubMed:22212761). Affects the assembly state and activity of the proteasome in the cells including neurons by ubiquitinating the proteasomal subunit PSMA2 via 'Lys-63'-linked polyubiquitin chains (By similarity). Promotes 'Lys-48'-linked polyubiquitination SIRT7, leading to the hydrogen peroxide-induced cell death (PubMed:36646384). {ECO:0000250|UniProtKB:Q3U7U3, ECO:0000269|PubMed:15145941, ECO:0000269|PubMed:16510124, ECO:0000269|PubMed:22212761, ECO:0000269|PubMed:23933751, ECO:0000269|PubMed:33010352, ECO:0000269|PubMed:34791250, ECO:0000269|PubMed:36646384}.
uniprot
proteins
mass_dalton
58503
uniprot
proteins
mutagenesis
MUTAGEN 22; /note="T->M: Impairs interaction with PRKN."; /evidence="ECO:0000269|PubMed:23933751"; MUTAGEN 253; /note="V->E: Abolishes interaction with PSMF1."; /evidence="ECO:0000269|PubMed:18495667
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
pubmed
10531035
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
10945468
uniprot
proteins
pubmed
12527899
uniprot
proteins
pubmed
12529303
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15145941
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16096642
uniprot
proteins
pubmed
16510124
uniprot
proteins
pubmed
18495667
uniprot
proteins
pubmed
18513678
uniprot
proteins
pubmed
20853184
uniprot
proteins
pubmed
22212761
uniprot
proteins
pubmed
23933751
uniprot
proteins
pubmed
24419388
uniprot
proteins
pubmed
32892229
uniprot
proteins
pubmed
33010352
uniprot
proteins
pubmed
34791250
uniprot
proteins
pubmed
36646384
uniprot
proteins
sequence_length
522
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16096642, ECO:0000269|PubMed:18495667}. Nucleus {ECO:0000269|PubMed:16096642, ECO:0000269|PubMed:18495667, ECO:0000269|PubMed:33010352}. Mitochondrion {ECO:0000269|PubMed:23933751}. Cytoplasm, cytosol {ECO:0000269|PubMed:23933751}. Note=Predominantly cytoplasmic (PubMed:16096642). A minor proportion is detected in the nucleus (PubMed:16096642). Relocates from the cytosol to depolarized mitochondria (PubMed:23933751). {ECO:0000269|PubMed:16096642, ECO:0000269|PubMed:23933751}.
uniprot
proteins