FBXL4
entrez
26235
canonical
uniprot
Q9UKA2
canonical
ensembl
ENSG00000112234
resolver
ensp
ENSP00000229971
resolver
ensp
ENSP00000358247
resolver
ensp
ENSP00000562598
resolver
ensp
ENSP00000562599
resolver
ensp
ENSP00000562600
resolver
ensp
ENSP00000562601
resolver
ensp
ENSP00000562607
resolver
ensp
ENSP00000562609
resolver
ensp
ENSP00000562613
resolver
ensp
ENSP00000562619
resolver
ensp
ENSP00000615157
resolver
ensp
ENSP00000710052
resolver
enst
ENST00000229971
resolver
enst
ENST00000369244
resolver
enst
ENST00000892540
resolver
enst
ENST00000892542
resolver
enst
ENST00000892550
resolver
enst
ENST00000892554
resolver
enst
ENST00000892560
resolver
enst
ENST00000945098
resolver
genesymbol
FBXL4
resolver
genesymbol_syn
FBL4
resolver
genesymbol_syn
FBL5
resolver
hgnc
HGNC:13601
resolver
uniprot
B2R7Q5
resolver
uniprot
E1P530
resolver
uniprot
O95919
resolver
uniprot
Q5BJH0
resolver
uniprot
Q9UJU0
resolver
uniprot_entry
FBXL4_HUMAN
resolver
uniprot_sec
B2R7Q5
resolver
uniprot_sec
E1P530
resolver
uniprot_sec
O95919
resolver
uniprot_sec
Q5BJH0
resolver
uniprot_sec
Q9UJU0
resolver
amino_acid_sequence
MSPVFPMLTVLTMFYYICLRRRARTATRGEMMNTHRAIESNSQTSPLNAEVVQYAKEVVDFSSHYGSENSMSYTMWNLAGVPNVFPSSGDFTQTAVFRTYGTWWDQCPSASLPFKRTPPNFQSQDYVELTFEQQVYPTAVHVLETYHPGAVIRILACSANPYSPNPPAEVRWEILWSERPTKVNASQARQFKPCIKQINFPTNLIRLEVNSSLLEYYTELDAVVLHGVKDKPVLSLKTSLIDMNDIEDDAYAEKDGCGMDSLNKKFSSAVLGEGPNNGYFDKLPYELIQLILNHLTLPDLCRLAQTCKLLSQHCCDPLQYIHLNLQPYWAKLDDTSLEFLQSRCTLVQWLNLSWTGNRGFISVAGFSRFLKVCGSELVRLELSCSHFLNETCLEVISEMCPNLQALNLSSCDKLPPQAFNHIAKLCSLKRLVLYRTKVEQTALLSILNFCSELQHLSLGSCVMIEDYDVIASMIGAKCKKLRTLDLWRCKNITENGIAELASGCPLLEELDLGWCPTLQSSTGCFTRLAHQLPNLQKLFLTANRSVCDTDIDELACNCTRLQQLDILGTRMVSPASLRKLLESCKDLSLLDVSFCSQIDNRAVLELNASFPKVFIKKSFTQ
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial DNA depletion syndrome 13 (MTDPS13) [MIM:615471]: An autosomal recessive disorder characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay. Cells derived from patient tissues show defects in mitochondrial oxidative phosphorylation and decreased mtDNA content. {ECO:0000269|PubMed:23993193, ECO:0000269|PubMed:23993194, ECO:0000269|PubMed:27182039}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Substrate-recognition component of the mitochondria-localized SCF-FBXL4 ubiquitin E3 ligase complex that plays a role in the restriction of mitophagy by controlling the degradation of BNIP3 and NIX mitophagy receptors (PubMed:36896912, PubMed:38992176). Rescues also mitochondrial injury through reverting hyperactivation of DRP1-mediated mitochondrial fission (By similarity). {ECO:0000250|UniProtKB:Q8BH70, ECO:0000269|PubMed:36896912, ECO:0000269|PubMed:38992176}.
uniprot
proteins
mass_dalton
70097
uniprot
proteins
pubmed
10531035
uniprot
proteins
pubmed
10531037
uniprot
proteins
pubmed
10945468
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23993193
uniprot
proteins
pubmed
23993194
uniprot
proteins
pubmed
27182039
uniprot
proteins
pubmed
36896912
uniprot
proteins
pubmed
38992176
uniprot
proteins
sequence_length
621
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Mitochondrion outer membrane {ECO:0000269|PubMed:36896912}.
uniprot
proteins