• Gene id: 64839

Gene Summary

• Gene Symbol: FBXL17   Gene   UCSC   Ensembl
• Aliases: FBXO13, Fbl17, Fbx13
• Gene name: F-box and leucine rich repeat protein 17
• Alternate names: F-box/LRR-repeat protein 17, F-box only protein 13,
• Gene location: 5q21.3 (108382097: 107859034)     Exons: 9     NC_000005.10
• Gene summary(Entrez): Members of the F-box protein family, such as FBXL17, 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: 609083

Protein Summary

• Protein general information: Q9UF56  
  • Name: F box/LRR repeat protein 17 (F box and leucine rich repeat protein 17) (F box only protein 13)
  • Length: 701  
  • Mass: 75695
• Sequence:

  MGHLLSKEPRNRPSQKRPRCCSWCRRRRPLLRLPRRTPAKVPPQPAAPRSRDCFFRGPCMLCFIVHSPGAPAPAG
  PEEEPPLSPPPRDGAYAAASSSQHLARRYAALAAEDCAAAARRFLLSSAAAAAAAAASASSPASCCKELGLAAAA
  AWEQQGRSLFLASLGPVRFLGPPAAVQLFRGPTPSPAELPTPPEMVCKRKGAGVPACTPCKQPRCGGGGCGGGGG
  GGGGGGPAGGGASPPRPPDAGCCQAPEQPPQPLCPPPSSPTSEGAPTEAGGDAVRAGGTAPLSAQQQHECGDADC
  RESPENPCDCHREPPPETPDINQLPPSILLKIFSNLSLDERCLSASLVCKYWRDLCLDFQFWKQLDLSSRQQVTD
  ELLEKIASRSQNIIEINISDCRSMSDNGVCVLAFKCPGLLRYTAYRCKQLSDTSIIAVASHCPLLQKVHVGNQDK
  LTDEGLKQLGSKCRELKDIHFGQCYKISDEGMIVIAKGCLKLQRIYMQENKLVTDQSVKAFAEHCPELQYVGFMG
  CSVTSKGVIHLTKLRNLSSLDLRHITELDNETVMEIVKRCKNLSSLNLCLNWIINDRCVEVIAKEGQNLKELYLV
  SCKITDYALIAIGRYSMTIETVDVGWCKEITDQGATLIAQSSKSLRYLGLMRCDKVNEVTVEQLVQQYPHITFST
  VLQDCKRTLERAYQMGWTPNMSAASS

• Structural information:
  • Protein Domains: (318..36-)
    (/note="F-box-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00080"-)
  • Interpro: IPR036047  IPR001810  IPR001611  IPR006553  IPR032675  
  • Prosite: PS50181
  • STRING: ENSP00000437464
• Other Databases: GeneCards:  FBXL17  Malacards:  FBXL17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0031146	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0031146	SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0016567	protein ubiquitination	IDA	biological process
GO:0019005	SCF ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0006515	protein quality control for misfolded or incompletely synthesized proteins	IDA	biological process
GO:0014033	neural crest cell differentiation	ISS	biological process
GO:0007399	nervous system development	ISS	biological process
GO:0008589	regulation of smoothened signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq