• Gene id: 55827

Gene Summary

• Gene Symbol: DCAF6   Gene   UCSC   Ensembl
• Aliases: 1200006M05Rik, ARCAP, IQWD1, MSTP055, NRIP, PC326
• Gene name: DDB1 and CUL4 associated factor 6
• Alternate names: DDB1- and CUL4-associated factor 6, IQ motif and WD repeat-containing protein 1, IQ motif and WD repeats 1, androgen receptor complex-associated protein, nuclear receptor interaction protein,
• Gene location: 1q24.2 (29075608: 29073520)     Exons: 1     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is a ligand-dependent coactivator of nuclear receptors, including nuclear receptor subfamily 3 group C member 1 (NR3C1), glucocorticoid receptor (GR), and androgen receptor (AR). The encoded protein and DNA damage binding
• OMIM: 610494

Protein Summary

• Protein general information: Q58WW2  
  • Name: DDB1 and CUL4 associated factor 6 (Androgen receptor complex associated protein) (ARCAP) (IQ motif and WD repeat containing protein 1) (Nuclear receptor interaction protein) (NRIP)
  • Length: 860  
  • Mass: 96292
  • Tissue specificity: Highly expressed in skeletal muscle and testis. Expressed to a lesser degree in heart, prostate, and adrenal gland. {ECO
• Sequence:

  MSRGGSYPHLLWDVRKRSLGLEDPSRLRSRYLGRREFIQRLKLEATLNVHDGCVNTICWNDTGEYILSGSDDTKL
  VISNPYSRKVLTTIRSGHRANIFSAKFLPCTNDKQIVSCSGDGVIFYTNVEQDAETNRQCQFTCHYGTTYEIMTV
  PNDPYTFLSCGEDGTVRWFDTRIKTSCTKEDCKDDILINCRRAATSVAICPPIPYYLAVGCSDSSVRIYDRRMLG
  TRATGNYAGRGTTGMVARFIPSHLNNKSCRVTSLCYSEDGQEILVSYSSDYIYLFDPKDDTARELKTPSAEERRE
  ELRQPPVKRLRLRGDWSDTGPRARPESERERDGEQSPNVSLMQRMSDMLSRWFEEASEVAQSNRGRGRSRPRGGT
  SQSDISTLPTVPSSPDLEVSETAMEVDTPAEQFLQPSTSSTMSAQAHSTSSPTESPHSTPLLSSPDSEQRQSVEA
  SGHHTHHQSDNNNEKLSPKPGTGEPVLSLHYSTEGTTTSTIKLNFTDEWSSIASSSRGIGSHCKSEGQEESFVPQ
  SSVQPPEGDSETKAPEESSEDVTKYQEGVSAENPVENHINITQSDKFTAKPLDSNSGERNDLNLDRSCGVPEESA
  SSEKAKEPETSDQTSTESATNENNTNPEPQFQTEATGPSAHEETSTRDSALQDTDDSDDDPVLIPGARYRAGPGD
  RRSAVARIQEFFRRRKERKEMEELDTLNIRRPLVKMVYKGHRNSRTMIKEANFWGANFVMSGSDCGHIFIWDRHT
  AEHLMLLEADNHVVNCLQPHPFDPILASSGIDYDIKIWSPLEESRIFNRKLADEVITRNELMLEETRNTITVPAS
  FMLRMLASLNHIRADRLEGDRSEGSGQENENEDEE

• Structural information:
  • Protein Domains: (676..70-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116"-)
  • Interpro: IPR000048  IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50096 PS50294
  • PDB: 3I7O
  • PDBsum: 3I7O
  • DIP: 44678
  • STRING: ENSP00000356814
• Other Databases: GeneCards:  DCAF6  Malacards:  DCAF6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0030374	nuclear receptor transcription coactivator activity	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030374	nuclear receptor transcription coactivator activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IGI	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005925	focal adhesion	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
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R