• Gene id: 26235

Gene Summary

• Gene Symbol: FBXL4   Gene   UCSC   Ensembl
• Aliases: FBL4, FBL5, MTDPS13
• Gene name: F-box and leucine rich repeat protein 4
• Alternate names: F-box/LRR-repeat protein 4,
• Gene location: 6q16.1-q16.2 (52690580: 52612363)     Exons: 11     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in pho
• OMIM: 605654

Protein Summary

• Protein general information: Q9UKA2  
  • Name: F box/LRR repeat protein 4 (F box and leucine rich repeat protein 4) (F box protein FBL4/FBL5)
  • Length: 621  
  • Mass: 70097
  • Tissue specificity: Expressed in heart, kidney, liver, lung, pancreas, and placenta, but not in skeletal muscle. {ECO
• Sequence:

  MSPVFPMLTVLTMFYYICLRRRARTATRGEMMNTHRAIESNSQTSPLNAEVVQYAKEVVDFSSHYGSENSMSYTM
  WNLAGVPNVFPSSGDFTQTAVFRTYGTWWDQCPSASLPFKRTPPNFQSQDYVELTFEQQVYPTAVHVLETYHPGA
  VIRILACSANPYSPNPPAEVRWEILWSERPTKVNASQARQFKPCIKQINFPTNLIRLEVNSSLLEYYTELDAVVL
  HGVKDKPVLSLKTSLIDMNDIEDDAYAEKDGCGMDSLNKKFSSAVLGEGPNNGYFDKLPYELIQLILNHLTLPDL
  CRLAQTCKLLSQHCCDPLQYIHLNLQPYWAKLDDTSLEFLQSRCTLVQWLNLSWTGNRGFISVAGFSRFLKVCGS
  ELVRLELSCSHFLNETCLEVISEMCPNLQALNLSSCDKLPPQAFNHIAKLCSLKRLVLYRTKVEQTALLSILNFC
  SELQHLSLGSCVMIEDYDVIASMIGAKCKKLRTLDLWRCKNITENGIAELASGCPLLEELDLGWCPTLQSSTGCF
  TRLAHQLPNLQKLFLTANRSVCDTDIDELACNCTRLQQLDILGTRMVSPASLRKLLESCKDLSLLDVSFCSQIDN
  RAVLELNASFPKVFIKKSFTQ

• Structural information:
  • Protein Domains: (277..33-)
    (/note="F-box-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00080"-)
  • Interpro: IPR036047  IPR001810  IPR006553  IPR032675  
  • Prosite: PS50181
  • STRING: ENSP00000358247
• Other Databases: GeneCards:  FBXL4  Malacards:  FBXL4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0019005	SCF ubiquitin ligase complex	IBA	cellular component
GO:0031146	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0000151	ubiquitin ligase complex	TAS	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
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:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component

Diseases

Associated diseases	References
Mitochondrial DNA depletion syndrome	KEGG:H00469
Mitochondrial DNA depletion syndrome	KEGG:H00469
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881