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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral visual impairment and intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DCAF6-related condition	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL IDIOPATHIC HYPERCALCIURIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TERATOZOOSPERMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	24222117		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31629737		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	15784617		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31629737		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34286861	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31629737		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24222117		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11507044, 16902972, 17310988, 18645583, 19578386, 21093414, 28212551		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	24763052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31226266		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	16080200		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	31629737		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28212551		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	22335445		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18673574	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11507044, 16902972, 17310988, 18645583, 19578386, 21093414, 28212551		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	24763052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28212551	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31226266		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★☆☆☆☆ Found in Text Mining only