DCAF6 (DDB1 and CUL4 associated factor 6)

Gene

• Entrez ID: 55827
• Gene name: DDB1 and CUL4 associated factor 6
• Gene symbol: DCAF6
• Synonyms (NCBI Gene): 1200006M05Rik, ARCAP, IQWD1, MSTP055, NRIP, PC326
• Chromosome: 1
• Chromosome location: 1q24.2
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs145189179	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT051512	hsa-let-7e-5p	CLASH	23622248
MIRT048430	hsa-miR-100-5p	CLASH	23622248
MIRT048430	hsa-miR-100-5p	CLASH	23622248
MIRT925179	hsa-miR-188-3p	CLIP-seq
MIRT925180	hsa-miR-25	CLIP-seq
MIRT925181	hsa-miR-3162-5p	CLIP-seq
MIRT925182	hsa-miR-32	CLIP-seq
MIRT925183	hsa-miR-33a	CLIP-seq
MIRT925184	hsa-miR-33b	CLIP-seq
MIRT925185	hsa-miR-363	CLIP-seq
MIRT925186	hsa-miR-367	CLIP-seq
MIRT925187	hsa-miR-4325	CLIP-seq
MIRT925188	hsa-miR-4668-5p	CLIP-seq
MIRT925189	hsa-miR-483-3p	CLIP-seq
MIRT925190	hsa-miR-485-3p	CLIP-seq
MIRT925191	hsa-miR-493	CLIP-seq
MIRT925192	hsa-miR-532-3p	CLIP-seq
MIRT925193	hsa-miR-548al	CLIP-seq
MIRT925194	hsa-miR-561	CLIP-seq
MIRT925195	hsa-miR-602	CLIP-seq
MIRT925196	hsa-miR-640	CLIP-seq
MIRT925197	hsa-miR-92a	CLIP-seq
MIRT925198	hsa-miR-92b	CLIP-seq
MIRT925179	hsa-miR-188-3p	CLIP-seq
MIRT925180	hsa-miR-25	CLIP-seq
MIRT925181	hsa-miR-3162-5p	CLIP-seq
MIRT925182	hsa-miR-32	CLIP-seq
MIRT925183	hsa-miR-33a	CLIP-seq
MIRT925184	hsa-miR-33b	CLIP-seq
MIRT925185	hsa-miR-363	CLIP-seq
MIRT925186	hsa-miR-367	CLIP-seq
MIRT1974057	hsa-miR-421	CLIP-seq
MIRT925187	hsa-miR-4325	CLIP-seq
MIRT925188	hsa-miR-4668-5p	CLIP-seq
MIRT925189	hsa-miR-483-3p	CLIP-seq
MIRT925190	hsa-miR-485-3p	CLIP-seq
MIRT925192	hsa-miR-532-3p	CLIP-seq
MIRT925193	hsa-miR-548al	CLIP-seq
MIRT925195	hsa-miR-602	CLIP-seq
MIRT925196	hsa-miR-640	CLIP-seq
MIRT925197	hsa-miR-92a	CLIP-seq
MIRT925198	hsa-miR-92b	CLIP-seq
MIRT1974058	hsa-miR-944	CLIP-seq
MIRT2209627	hsa-miR-150	CLIP-seq
MIRT2209628	hsa-miR-300	CLIP-seq
MIRT2209629	hsa-miR-3065-5p	CLIP-seq
MIRT2209630	hsa-miR-381	CLIP-seq
MIRT2209631	hsa-miR-4666-3p	CLIP-seq
MIRT2209632	hsa-miR-4713-5p	CLIP-seq
MIRT2209633	hsa-miR-4760-3p	CLIP-seq
MIRT2209634	hsa-miR-4789-5p	CLIP-seq
MIRT2209635	hsa-miR-495	CLIP-seq
MIRT925192	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	15784617
GO:0005515	Function	Protein binding	IPI	16949367, 19966799, 26275350, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	15784617
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IDA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	15784617
GO:0080008	Component	Cul4-RING E3 ubiquitin ligase complex	IBA
GO:0080008	Component	Cul4-RING E3 ubiquitin ligase complex	IDA	16949367

Other IDs

• MIM: 610494
• HGNC: 30002
• e!Ensembl: ENSG00000143164

Protein

• UniProt ID: Q58WW2
• Protein 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)
• Protein function: Ligand-dependent coactivator of nuclear receptors. Enhance transcriptional activity of the nuclear receptors NR3C1 and AR. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. {ECO:0000269|PubMed:15784617, ECO:
• PDB: 3I7O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	41 → 77	WD domain, G-beta repeat	Repeat
  PF00400	WD40	752 → 789	WD domain, G-beta repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in skeletal muscle and testis. Expressed to a lesser degree in heart, prostate, and adrenal gland. {ECO:0000269|PubMed:15784617}.
• Sequence:

  MSRGGSYPHLLWDVRKRSLGLEDPSRLRSRYLGRREFIQRLKLEATLNVHDGCVNTICWN
  DTGEYILSGSDDTKLVISNPYSRKVLTTIRSGHRANIFSAKFLPCTNDKQIVSCSGDGVI
  FYTNVEQDAETNRQCQFTCHYGTTYEIMTVPNDPYTFLSCGEDGTVRWFDTRIKTSCTKE
  DCKDDILINCRRAATSVAICPPIPYYLAVGCSDSSVRIYDRRMLGTRATGNYAGRGTTGM
  VARFIPSHLNNKSCRVTSLCYSEDGQEILVSYSSDYIYLFDPKDDTARELKTPSAEERRE
  ELRQPPVKRLRLRGDWSDTGPRARPESERERDGEQSPNVSLMQRMSDMLSRWFEEASEVA
  QSNRGRGRSRPRGGTSQSDISTLPTVPSSPDLEVSETAMEVDTPAEQFLQPSTSSTMSAQ
  AHSTSSPTESPHSTPLLSSPDSEQRQSVEASGHHTHHQSDNNNEKLSPKPGTGEPVLSLH
  YSTEGTTTSTIKLNFTDEWSSIASSSRGIGSHCKSEGQEESFVPQSSVQPPEGDSETKAP
  EESSEDVTKYQEGVSAENPVENHINITQSDKFTAKPLDSNSGERNDLNLDRSCGVPEESA
  SSEKAKEPETSDQTSTESATNENNTNPEPQFQTEATGPSAHEETSTRDSALQDTDDSDDD
  PVLIPGARYRAGPGDRRSAVARIQEFFRRRKERKEMEELDTLNIRRPLVKMVYKGHRNSR
  TMIKEANFWGANFVMSGSDCGHIFIWDRHTAEHLMLLEADNHVVNCLQPHPFDPILASSG
  IDYDIKIWSPLEESRIFNRKLADEVITRNELMLEETRNTITVPASFMLRMLASLNHIRAD
  RLEGDRSEGSGQENENEDEE

• Sequence length: 860

Pathways

Reactome:

Neddylation

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cerebral visual impairment and intellectual disability	Conflicting classifications of pathogenicity	rs145189179	RCV000210411
DCAF6-related condition	Conflicting classifications of pathogenicity	rs145189179	RCV005365143

Associations from Text Mining
Disease Name	Relationship Type	References
Hearing Loss	Associate	34286861
Meningeal Carcinomatosis	Associate	18673574
Neoplasms	Associate	18673574, 28212551
Ovarian Neoplasms	Associate	18673574
Prostatic Neoplasms	Associate	28212551
Prostatitis	Associate	18673574
Uterine Cervicitis	Associate	18673574
Vision Disorders	Associate	26350515