• Gene id: 26224

Gene Summary

• Gene Symbol: FBXL3   Gene   UCSC   Ensembl
• Aliases: FBL3, FBL3A, FBXL3A, IDDSFAS
• Gene name: F-box and leucine rich repeat protein 3
• Alternate names: F-box/LRR-repeat protein 3, F-box and leucine-rich repeat protein 3A, F-box protein Fbl3a, F-box/LRR-repeat protein 3A,
• Gene location: 13q22.3 (77027163: 76992596)     Exons: 28     NC_000013.11
• Gene summary(Entrez): 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
• OMIM: 605653

Protein Summary

• Protein general information: Q9UKT7  
  • Name: F box/LRR repeat protein 3 (F box and leucine rich repeat protein 3A) (F box/LRR repeat protein 3A)
  • Length: 428  
  • Mass: 48707
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MKRGGRDSDRNSSEEGTAEKSKKLRTTNEHSQTCDWGNLLQDIILQVFKYLPLLDRAHASQVCRNWNQVFHMPDL
  WRCFEFELNQPATSYLKATHPELIKQIIKRHSNHLQYVSFKVDSSKESAEAACDILSQLVNCSLKTLGLISTARP
  SFMDLPKSHFISALTVVFVNSKSLSSLKIDDTPVDDPSLKVLVANNSDTLKLLKMSSCPHVSPAGILCVADQCHG
  LRELALNYHLLSDELLLALSSEKHVRLEHLRIDVVSENPGQTHFHTIQKSSWDAFIRHSPKVNLVMYFFLYEEEF
  DPFFRYEIPATHLYFGRSVSKDVLGRVGMTCPRLVELVVCANGLRPLDEELIRIAERCKNLSAIGLGECEVSCSA
  FVEFVKMCGGRLSQLSIMEEVLIPDQKYSLEQIHWEVSKHLGRVWFPDMMPTW

• Structural information:
  • Protein Domains: (34..8-)
    (/note="F-box"-)
  • Interpro: IPR036047  IPR001810  IPR032675  
  • PDB: 4I6J
  • PDBsum: 4I6J
  • DIP: 40770
  • STRING: ENSP00000347834
• Other Databases: GeneCards:  FBXL3  Malacards:  FBXL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000086	G2/M transition of mitotic cell cycle	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0043153	entrainment of circadian clock by photoperiod	IBA	biological process
GO:0051726	regulation of cell cycle	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0019005	SCF ubiquitin ligase complex	IBA	cellular component
GO:0031146	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0043153	entrainment of circadian clock by photoperiod	ISS	biological process
GO:0031648	protein destabilization	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0016567	protein ubiquitination	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043153	entrainment of circadian clock by photoperiod	IEA	biological process
GO:0031648	protein destabilization	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0031146	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0004842	ubiquitin-protein transferase activity	IDA	contributes to
GO:0031146	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0019005	SCF ubiquitin ligase complex	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	NAS	molecular function
GO:0000151	ubiquitin ligase complex	NAS	cellular component
GO:0042752	regulation of circadian rhythm	IMP	biological process
GO:0016567	protein ubiquitination	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04710	Circadian rhythm

Diseases

Associated diseases	References
Intellectual developmental disorder with short stature, facial anomalies, and speech defects	KEGG:H02346
Intellectual developmental disorder with short stature, facial anomalies, and speech defects	KEGG:H02346
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881