Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26224
Gene name Gene Name - the full gene name approved by the HGNC.
F-box and leucine rich repeat protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FBXL3
Synonyms (NCBI Gene) Gene synonyms aliases
FBL3, FBL3A, FBXL3A, IDDSFAS
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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), w
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs374431043 G>A,C,T Pathogenic Missense variant, 5 prime UTR variant, synonymous variant, stop gained, coding sequence variant
rs764008859 A>- Pathogenic Frameshift variant, coding sequence variant, intron variant
rs1566225872 A>G Pathogenic Coding sequence variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019641 hsa-miR-340-5p Sequencing 20371350
MIRT021110 hsa-miR-186-5p Sequencing 20371350
MIRT028091 hsa-miR-93-5p Sequencing 20371350
MIRT703633 hsa-miR-4797-5p HITS-CLIP 23313552
MIRT703632 hsa-miR-5586-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000151 Component Ubiquitin ligase complex NAS 10531035
GO:0004842 Function Ubiquitin-protein transferase activity IDA 17463251
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity NAS 10531035
GO:0005515 Function Protein binding IPI 17463251, 23503662, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605653 13599 ENSG00000005812
Protein
UniProt ID Q9UKT7
Protein name F-box/LRR-repeat protein 3 (F-box and leucine-rich repeat protein 3A) (F-box/LRR-repeat protein 3A)
Protein 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, Pu
PDB 4I6J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12937 F-box-like 41 81 F-box-like Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10531035}.
Sequence
MKRGGRDSDRNSSEEGTAEKSKKLRTTNEHSQTCDWGNLLQDIILQVFKYLPLLDRAHAS
QVCRNWNQVFHMPDLWRCFEF
ELNQPATSYLKATHPELIKQIIKRHSNHLQYVSFKVDSS
KESAEAACDILSQLVNCSLKTLGLISTARPSFMDLPKSHFISALTVVFVNSKSLSSLKID
DTPVDDPSLKVLVANNSDTLKLLKMSSCPHVSPAGILCVADQCHGLRELALNYHLLSDEL
LLALSSEKHVRLEHLRIDVVSENPGQTHFHTIQKSSWDAFIRHSPKVNLVMYFFLYEEEF
DPFFRYEIPATHLYFGRSVSKDVLGRVGMTCPRLVELVVCANGLRPLDEELIRIAERCKN
LSAIGLGECEVSCSAFVEFVKMCGGRLSQLSIMEEVLIPDQKYSLEQIHWEVSKHLGRVW
FPDMMPTW
Sequence length 428
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Circadian rhythm   Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation intellectual disability, short stature, facial anomalies, and joint dislocations N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 39193850
Colorectal Neoplasms Associate 21209843
COVID 19 Associate 36913345
Developmental Disabilities Associate 30481285
Facial Dysmorphism with Multiple Malformations Associate 30481285
Growth Disorders Associate 30481285
Intellectual Disability Associate 30481285