• Gene id: 51725

Gene Summary

• Gene Symbol: FBXO40   Gene   UCSC   Ensembl
• Aliases: FBX40
• Gene name: F-box protein 40
• Alternate names: F-box only protein 40, muscle disease-related protein,
• Gene location: 3q13.33 (121593378: 121630294)     Exons: 5     NC_000003.12
• Gene summary(Entrez): Members of the F-box protein family, such as FBXO40, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box pr
• OMIM: 609107

Protein Summary

• Protein general information: Q9UH90  
  • Name: F box only protein 40 (Muscle disease related protein)
  • Length: 709  
  • Mass: 79782
  • Tissue specificity: Expressed only in heart and skeletal muscle. {ECO
• Sequence:

  MGKARRSPPGHHRHCEGCFNRHCHIPVEPNTSCLVISCHLLCGATFHMCKEAEHQLLCPLEQVPCLNSEYGCPLS
  MSRHKLAKHLQVCPASVVCCSMEWNRWPNVDSETTLHENIMKETPSEECLDTALALQDQKVLFRSLKMVELFPET
  REATEEEPTMNGETSVEEMGGAVGGVDIGLVPHGLSATNGEMAELSQEEREVLAKTKEGMDLVKFGQWENIFSKE
  HAASALTNSSASCESKNKNDSEKEQISSGHNMVEGEGAPKKKEPQENQKQQDVRTAMETTGLAPWQDGVLERLKT
  AVDAKDYNMYLVHNGRMLIHFGQMPACTPKERDFVYGKLEAQEVKTVYTFKVPVSYCGKRARLGDAMLSCKPSEH
  KAVDTSDLGITVEDLPKSDLIKTTLQCALERELKGHVISESRSIDGLFMDFATQTYNFEPEQFSSGTVLADLTAA
  TPGGLHVELHSECVTRRHNKSSSAFTFTCNKFFRRDEFPLHFKNVHTDIQSCLNGWFQHRCPLAYLGCTFVQNHF
  RPPGQKAKVIYSQELKTFAIKPEVAPELSEGRKNNHLLGHGGKSQNSLTSLPLEILKYIAGFLDSVSLAQLSQVS
  VLMRNICATLLQERGMVLLQWKKKRYSHGGTSWRVHREIWQFSSLFSKIKSWEFNEVTSMSEHLKSCPFNIVEHK
  TDPILLTSMCQPREQARESLVSTFRIRPRGRYVS

• Structural information:
  • Protein Domains: (570..62-)
    (/note="F-box-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00080"-)
  • Interpro: IPR036047  IPR001810  IPR031890  IPR008974  IPR013083   IPR001293  IPR043013  
  • Prosite: PS50181 PS50145
  • STRING: ENSP00000337510
• Other Databases: GeneCards:  FBXO40  Malacards:  FBXO40

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042692	muscle cell differentiation	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
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:0042692	muscle cell differentiation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
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)