F-Box and Leucine-rich Repeat Protein 3

Alternative Names

  • FBXL3
  • F-Box and Leucine-rich Repeat Protein 3A; FBXL3A
  • FBL3A
  • FBL3
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OMIM Number

605653

NCBI Gene ID

26224

Uniprot ID

Q9UKT7

Length

34,599 bases

No. of Exons

6

No. of isoforms

1

Protein Name

F-box/LRR-repeat protein 3

Molecular Mass

48707 Da

Amino Acid Count

428

Genomic Location

chr13:76,992,598-77,027,196

Gene Map Locus
13q22.3

Description

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_012158.3:c.445C>TLebanonchr13:77018626PathogenicIntellectual Development Disorder with Short Stature, Facial Anomalies and Speech defectsNC_000013.10:g.77592761G>A; NM_012158.3:c.445C>T; NP_036290.1:p.Arg149Ter374431043625419
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