• Gene id: 93611

Gene Summary

• Gene Symbol: FBXO44   Gene   UCSC   Ensembl
• Aliases: FBG3, FBX30, FBX6A, Fbx44, Fbxo6a
• Gene name: F-box protein 44
• Alternate names: F-box only protein 44, F-box gene 3, F-box protein FBX30, F-box/G-domain protein 3,
• Gene location: 1p36.22 (11654374: 11663326)     Exons: 9     NC_000001.11
• 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 the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box
• OMIM: 600395

Protein Summary

• Protein general information: Q9H4M3  
  • Name: F box only protein 44 (F box protein FBX30) (F box/G domain protein 3)
  • Length: 255  
  • Mass: 29747
  • Tissue specificity: Abundantly expressed in brain and kidney. Expressed at lower levels in heart, spleen and liver. {ECO
• Sequence:

  MAVGNINELPENILLELFTHVPARQLLLNCRLVCSLWRDLIDLVTLWKRKCLREGFITEDWDQPVADWKIFYFLR
  SLHRNLLHNPCAEEGFEFWSLDVNGGDEWKVEDLSRDQRKEFPNDQVKKYFVTSYYTCLKSQVVDLKAEGYWEEL
  MDTTRPDIEVKDWFAARPDCGSKYQLCVQLLSSAHAPLGTFQPDPATIQQKSDAKWREVSHTFSNYPPGVRYIWF
  QHGGVDTHYWAGWYGPRVTNSSITIGPPLP

• Structural information:
  • Protein Domains: (3..5-)
    (/note="F-box-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00080-)
    (71..25-)
    (/note="FBA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00482"-)
  • Interpro: IPR007397  IPR036047  IPR001810  IPR039752  IPR008979  
  • Prosite: PS51114 PS50181
  • PDB: 3WSO 5B4N
  • PDBsum: 3WSO 5B4N
  • STRING: ENSP00000365961
• Other Databases: GeneCards:  FBXO44  Malacards:  FBXO44

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IBA	contributes to
GO:0005737	cytoplasm	IBA	cellular component
GO:0006516	glycoprotein catabolic process	IBA	biological process
GO:0019005	SCF ubiquitin ligase complex	IBA	cellular component
GO:0030433	ubiquitin-dependent ERAD pathway	IBA	biological process
GO:0031146	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0019005	SCF ubiquitin ligase complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010498	proteasomal protein catabolic process	IDA	biological process
GO:0010498	proteasomal protein catabolic process	IMP	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: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

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray