• Gene id: 8816

Gene Summary

• Gene Symbol: DCAF5   Gene   UCSC   Ensembl
• Aliases: BCRG2, BCRP2, D14S1461E, WDR22
• Gene name: DDB1 and CUL4 associated factor 5
• Alternate names: DDB1- and CUL4-associated factor 5, WD repeat-containing protein 22, breakpoint cluster region protein, uterine leiomyoma, 2,
• Gene location: 14q24.1 (69153392: 69050880)     Exons: 14     NC_000014.9
• OMIM: 603812

Protein Summary

• Protein general information: Q96JK2  
  • Name: DDB1 and CUL4 associated factor 5 (Breakpoint cluster region protein 2) (BCRP2) (WD repeat containing protein 22)
  • Length: 942  
  • Mass: 103963
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MKRRAGLGGSMRSVVGFLSQRGLHGDPLLTQDFQRRRLRGCRNLYKKDLLGHFGCVNAIEFSNNGGQWLVSGGDD
  RRVLLWHMEQAIHSRVKPIQLKGEHHSNIFCLAFNSGNTKVFSGGNDEQVILHDVESSETLDVFAHEDAVYGLSV
  SPVNDNIFASSSDDGRVLIWDIRESPHGEPFCLANYPSAFHSVMFNPVEPRLLATANSKEGVGLWDIRKPQSSLL
  RYGGNLSLQSAMSVRFNSNGTQLLALRRRLPPVLYDIHSRLPVFQFDNQGYFNSCTMKSCCFAGDRDQYILSGSD
  DFNLYMWRIPADPEAGGIGRVVNGAFMVLKGHRSIVNQVRFNPHTYMICSSGVEKIIKIWSPYKQPGCTGDLDGR
  IEDDSRCLYTHEEYISLVLNSGSGLSHDYANQSVQEDPRMMAFFDSLVRREIEGWSSDSDSDLSESTILQLHAGV
  SERSGYTDSESSASLPRSPPPTVDESADNAFHLGPLRVTTTNTVASTPPTPTCEDAASRQQRLSALRRYQDKRLL
  ALSNESDSEENVCEVELDTDLFPRPRSPSPEDESSSSSSSSSSEDEEELNERRASTWQRNAMRRRQKTTREDKPS
  APIKPTNTYIGEDNYDYPQIKVDDLSSSPTSSPERSTSTLEIQPSRASPTSDIESVERKIYKAYKWLRYSYISYS
  NNKDGETSLVTGEADEGRAGTSHKDNPAPSSSKEACLNIAMAQRNQDLPPEGCSKDTFKEETPRTPSNGPGHEHS
  SHAWAEVPEGTSQDTGNSGSVEHPFETKKLNGKALSSRAEEPPSPPVPKASGSTLNSGSGNCPRTQSDDSEERSL
  ETICANHNNGRLHPRPPHPHNNGQNLGELEVVAYSSPGHSDTDRDNSSLTGTLLHKDCCGSEMACETPNAGTRED
  PTDTPATDSSRAVHGHSGLKRQRIELEDTDSENSSSEKKLKT

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50082 PS50294
  • PDB: 3I89
  • PDBsum: 3I89
  • DIP: 48763
  • STRING: ENSP00000341351
• Other Databases: GeneCards:  DCAF5  Malacards:  DCAF5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IBA	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: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
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray