• Gene id: 286151

Gene Summary

• Gene Symbol: FBXO43   Gene   UCSC   Ensembl
• Aliases: EMI2, ERP1, FBX43
• Gene name: F-box protein 43
• Alternate names: F-box only protein 43, early mitotic inhibitor 2, endogenous meiotic inhibitor 2,
• Gene location: 8q22.2 (100150568: 100133350)     Exons: 8     NC_000008.11
• Gene summary(Entrez): Members of the F-box protein family, such as FBXO43, 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: 609110

Protein Summary

• Protein general information: Q4G163  
  • Name: F box only protein 43 (Endogenous meiotic inhibitor 2)
  • Length: 708  
  • Mass: 78402
• Sequence:

  MSFKDKDERISCLEAYVTLTSKSSRFTDETEILKMSQRHSGQAGTEAGNGADSPPIVNSKYSTFRDFCSTSSFQD
  SGYNELKSCSFDNIDKEYLGKKEKGPTLLYEHPETSGLGLTHPLESPTQKKKCILPRKEKDKTPELCETPKISGK
  KCLPRRRLNVSFALLKGDFESQNSSLESSISQVINLEKNIPSSASGFSRANNFSPLVTSTLKTEEVTSCSQKLRL
  NFSQQKTSTIDDSKDDCSLFEVECISPIQGNNFKDSITHDFSDSSLCINDENACPELLGSSVSGTTCGTDEDIFV
  TPISNLVANIRFNASQILSPSPEVRGSISTPEDSGFNSLSLEKSEDSLSDQEGSFQELLQKHKGTPKVGDTIRKT
  RHLGRSRRLSTLREQSSQSETEEEKQIVHPDSEKRAAAASAISEGQLSSDESGDLTFSLKNLSKTPALQLVHELF
  MKSKRKRLQENSGHEFLEQGDGEKIAVLQCILAGLIGKKMGIEKLDILTELKYRNLKHILAMVLESLTAESLCSV
  WKVSRNWREIVVQDKNANRRRKFYITQLKTDSEGAVLNVEDAATRLQLLNRSALRSVQAQARIPGSQREQGSTLS
  PWGEVLTPLASSSVTHLSSKQEEYVKVAKTLFTDEALKPCPRCQSPAKYQPYKKRGLCSRTACGFDFCVLCLCAY
  HGSEECSRGAAKPRNRKDALPGSAQSKRNLKRL

• Structural information:
  • Protein Domains: (490..54-)
    (/note="F-box"-)
  • Interpro: IPR002867  
  • Prosite: PS51872
  • STRING: ENSP00000403293
• Other Databases: GeneCards:  FBXO43  Malacards:  FBXO43

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045835	negative regulation of meiotic nuclear division	IBA	biological process
GO:0007088	regulation of mitotic nuclear division	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016567	protein ubiquitination	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04114	Oocyte meiosis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Male infertility	MIK: 30878252

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
30878252	Teratozoospermia, male infertility	C1991T, p.G664D	Chinese	126 cases, 200 controls	Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)