Entity Details

Primary name FBXL3
Entity type gene
Source Source Link

Details

PrimaryID26224
RefseqGene
SymbolFBXL3
NameF-box and leucine rich repeat protein 3
Chromosome13
Location13q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-08-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsFBXL3_HUMAN

GO terms

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GOName
GO:0000086 G2/M transition of mitotic cell cycle
GO:0000151 ubiquitin ligase complex
GO:0000209 protein polyubiquitination
GO:0004842 ubiquitin-protein transferase activity
GO:0005634 nucleus
GO:0005829 cytosol
GO:0016567 protein ubiquitination
GO:0016604 nuclear body
GO:0019005 SCF ubiquitin ligase complex
GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process
GO:0031648 protein destabilization
GO:0042752 regulation of circadian rhythm
GO:0043153 entrainment of circadian clock by photoperiod
GO:0043687 post-translational protein modification
GO:0048511 rhythmic process
GO:0051726 regulation of cell cycle

Diseases

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Disease IDSourceNameDescription
606220 OMIMIntellectual developmental disorder with short stature, facial anomalies, and speech defects (IDDSFAS)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. The disease is caused by variants affecting the gene represented in this entry.