FBXL3
entrez
26224
canonical
uniprot
Q9UKT7
canonical
ensembl
ENSG00000005812
resolver
ensp
ENSP00000347834
resolver
ensp
ENSP00000555218
resolver
ensp
ENSP00000555219
resolver
ensp
ENSP00000555222
resolver
ensp
ENSP00000555223
resolver
enst
ENST00000355619
resolver
enst
ENST00000885159
resolver
enst
ENST00000885160
resolver
enst
ENST00000885163
resolver
enst
ENST00000885164
resolver
genesymbol
FBXL3
resolver
genesymbol_syn
FBL3A
resolver
genesymbol_syn
FBXL3A
resolver
hgnc
HGNC:13599
resolver
uniprot
B2RB04
resolver
uniprot
Q9P122
resolver
uniprot_entry
FBXL3_HUMAN
resolver
uniprot_sec
B2RB04
resolver
uniprot_sec
Q9P122
resolver
amino_acid_sequence
MKRGGRDSDRNSSEEGTAEKSKKLRTTNEHSQTCDWGNLLQDIILQVFKYLPLLDRAHASQVCRNWNQVFHMPDLWRCFEFELNQPATSYLKATHPELIKQIIKRHSNHLQYVSFKVDSSKESAEAACDILSQLVNCSLKTLGLISTARPSFMDLPKSHFISALTVVFVNSKSLSSLKIDDTPVDDPSLKVLVANNSDTLKLLKMSSCPHVSPAGILCVADQCHGLRELALNYHLLSDELLLALSSEKHVRLEHLRIDVVSENPGQTHFHTIQKSSWDAFIRHSPKVNLVMYFFLYEEEFDPFFRYEIPATHLYFGRSVSKDVLGRVGMTCPRLVELVVCANGLRPLDEELIRIAERCKNLSAIGLGECEVSCSAFVEFVKMCGGRLSQLSIMEEVLIPDQKYSLEQIHWEVSKHLGRVWFPDMMPTW
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with short stature, facial anomalies, and speech defects (IDDSFAS) [MIM:606220]: An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, delayed or slurred speech, and short stature. Dysmorphic features included a large bulbous nose and variable microretrognathia. Some patients show joint hyperlaxity and dislocations. {ECO:0000269|PubMed:30481285}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Substrate-recognition component of the SCF(FBXL3) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation (PubMed:17463251, PubMed:23452855, PubMed:27565346). The SCF(FBXL3) complex mainly acts in the nucleus and mediates ubiquitination and subsequent degradation of CRY1 and CRY2 (PubMed:17463251, PubMed:23452855, PubMed:27565346). Activity of the SCF(FBXL3) complex is counteracted by the SCF(FBXL21) complex (PubMed:23452855). {ECO:0000269|PubMed:17463251, ECO:0000269|PubMed:23452855, ECO:0000269|PubMed:27565346}.
uniprot
proteins
mass_dalton
48707
uniprot
proteins
mutagenesis
MUTAGEN 358; /note="C->A: Loss of binding with CRY1."; /evidence="ECO:0000269|PubMed:17463251"; MUTAGEN 358; /note="C->S: Decrease in binding efficiency with CRY2 and of CRY2 ubiquitination efficiency, loss of binding with CRY1."; /evidence="ECO:0000269|PubMed:17463251
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
post_translational_modification
PTM: Undergoes autophagy-mediated degradation in the liver in a time-dependent manner. {ECO:0000250|UniProtKB:Q8C4V4}.
uniprot
proteins
pubmed
10531035
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17463251
uniprot
proteins
pubmed
23452855
uniprot
proteins
pubmed
27565346
uniprot
proteins
pubmed
30481285
uniprot
proteins
sequence_length
428
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10531035}. Cytoplasm {ECO:0000269|PubMed:10531035}. Note=Predominantly nuclear.
uniprot
proteins