• Gene id: 80067

Gene Summary

• Gene Symbol: DCAF17   Gene   UCSC   Ensembl
• Aliases: C20orf37, C2orf37
• Gene name: DDB1 and CUL4 associated factor 17
• Alternate names: DDB1- and CUL4-associated factor 17,
• Gene location: 2q31.1 (171434165: 171491028)     Exons: 18     NC_000002.12
• Gene summary(Entrez): This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcrip
• OMIM: 612515

Protein Summary

• Protein general information: Q5H9S7  
  • Name: DDB1 and CUL4 associated factor 17
  • Length: 520  
  • Mass: 58778
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MGPTRKPNVCSRLSRRALGCFSRDAGVVQRTNLGILRALVCQESTKFKNVWTTHSRSPIAYERGRIYFDNYRRCV
  SSVASEPRKLYEMPKCSKSEKIEDALLWECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYC
  KFRYLSWDTPQEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDATLSHGILI
  VMYSSGLVRLYSFQTIAEQFMQQKLDLGCACRWGGTTGTVGEAPFGIPCNIKITDMPPLLFEVSSLENAFQIGGH
  PWHYIVTPNKKKQKGVFHICALKDNSLAKNGIQEMDCCSLESDWIYFHPDASGRIIHVGPNQVKVLKLTEIENNS
  SQHQISEDFVILANRENHKNENVLTVTASGRVVKKSFNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKA
  HLDFHCNEYGTLLKSIPLVESWDVTYSHEVYFDRDLVLHIEQKPNRVFSCYVYQMICDTGEEEETINRSC

• Structural information:
  • Interpro: IPR031620  
  • STRING: ENSP00000364404
• Other Databases: GeneCards:  DCAF17  Malacards:  DCAF17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IBA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Woodhouse-Sakati syndrome	KEGG:H00682
Woodhouse-Sakati syndrome	KEGG:H00682
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 29178422
Spermatogenesis defects	MIK: 29907856

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29178422	Male infertility	exon 2 (c.127-1G > C), exon 5 (c.C535T; p.Gln179*), exon 9 (c.G906A; p.Trp302*)	America n, Turk ish	9 cases	Male infertility	NGS
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
30068992	Male infertility				Male infertility
29907856	Spermatogenesis defects				Male infertility