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DCAF7 DDB1 and CUL4 associated factor 7 [ Homo sapiens (human) ]

Gene ID: 10238, updated on 7-Apr-2024

Summary

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Official Symbol
DCAF7provided by HGNC
Official Full Name
DDB1 and CUL4 associated factor 7provided by HGNC
Primary source
HGNC:HGNC:30915
See related
Ensembl:ENSG00000136485 MIM:605973; AllianceGenome:HGNC:30915
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AN11; HAN11; WDR68; SWAN-1
Summary
This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Expression
Ubiquitous expression in kidney (RPKM 18.2), brain (RPKM 17.9) and 25 other tissues See more
Orthologs
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Genomic context

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See DCAF7 in Genome Data Viewer
Location:
17q23.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63550477..63594266)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64421091..64464885)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61627838..61671628)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12546 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:61594037-61595236 Neighboring gene angiotensin I converting enzyme 3, pseudogene Neighboring gene potassium voltage-gated channel subfamily H member 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61611272-61611775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:61626768-61627752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8820 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:61640093-61640313 Neighboring gene RNA, U6 small nuclear 288, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61687966-61688466 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61688467-61688967 Neighboring gene translational activator of cytochrome c oxidase I Neighboring gene family with sequence similarity 136 member A pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The an11 locus controlling flower pigmentation in petunia encodes a novel WD-repeat protein conserved in yeast, plants, and animals. de Vetten N, et al. Genes Dev, 1997 Jun 1. PMID 9192870
  2. MEN1 Degradation Induced by Neddylation and the CUL4B-DCAF7 Axis Promotes Pancreatic Neuroendocrine Tumor Progression. Xu J, et al. Cancer Res, 2023 Jul 5. PMID 36939378
  3. DCAF7 is required for maintaining the cellular levels of ERCC1-XPF and nucleotide excision repair. Kawara H, et al. Biochem Biophys Res Commun, 2019 Oct 29. PMID 31493872, Free PMC Article
  4. DCAF7/WDR68 is required for normal levels of DYRK1A and DYRK1B. Yousefelahiyeh M, et al. PLoS One, 2018. PMID 30496304, Free PMC Article
  5. DYRK1A binds to an evolutionarily conserved WD40-repeat protein WDR68 and induces its nuclear translocation. Miyata Y, et al. Biochim Biophys Acta, 2011 Oct. PMID 21777625

See all (138) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MEN1 Degradation Induced by Neddylation and the CUL4B-DCAF7 Axis Promotes Pancreatic Neuroendocrine Tumor Progression.
    Title: MEN1 Degradation Induced by Neddylation and the CUL4B-DCAF7 Axis Promotes Pancreatic Neuroendocrine Tumor Progression.
  2. DCAF7 is a novel regulator of ERCC1-XPF protein level and cellular nucleotide excision repair activity.
    Title: DCAF7 is required for maintaining the cellular levels of ERCC1-XPF and nucleotide excision repair.
  3. DCAF7/WDR68 is required for normal levels of DYRK1A and DYRK1B
    Title: DCAF7/WDR68 is required for normal levels of DYRK1A and DYRK1B.
  4. Immunoprecipitation and pulldown experiments identified DCAF7 as an adaptor for the association of the adenovirus E1A protein with DYRK1A and HIPK2
    Title: The adaptor protein DCAF7 mediates the interaction of the adenovirus E1A oncoprotein with the protein kinases DYRK1A and HIPK2.
  5. knockdown of DCAF7 reduced the degradation of DNA ligase I in response to inhibition of proliferation and replacement of ubiquitylated lysine residues reduced the in vitro ubiquitylation of DNA ligase I by Cul4-DDB1 and DCAF7. In contrast, a different E3 ubiquitin ligase regulates FEN-1 turnover.
    Title: Human DNA Ligase I Interacts with and Is Targeted for Degradation by the DCAF7 Specificity Factor of the Cul4-DDB1 Ubiquitin Ligase Complex.
  6. results demonstrate that the molecular chaperone TRiC/CCT is essential for correct protein folding, DYRK1A binding, and nuclear accumulation of WDR68.
    Title: The molecular chaperone TRiC/CCT binds to the Trp-Asp 40 (WD40) repeat protein WDR68 and promotes its folding, protein kinase DYRK1A binding, and nuclear accumulation.
  7. DYRK1A binds specifically to WDR68 in cells; the binding, but not the phosphorylation event, induces the nuclear translocation of WDR68.
    Title: DYRK1A binds to an evolutionarily conserved WD40-repeat protein WDR68 and induces its nuclear translocation.
  8. Han11 was required to allow coupling of MEKK1 to DYRK1 and HIPK2.
    Title: The WD40-repeat protein Han11 functions as a scaffold protein to control HIPK2 and MEKK1 kinase functions.
  9. that AN11 may be a physiological regulator of GLI1 transcriptional activity
    Title: HAN11 binds mDia1 and controls GLI1 transcriptional activity.
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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-macromolecule adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Cul4-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nuclear matrix IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
DDB1- and CUL4-associated factor 7
Names
WD repeat-containing protein 68
WD repeat-containing protein An11 homolog
human anthocyanin
seven-WD-repeat protein of the AN11 family-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033092.2 RefSeqGene

    Range
    5002..48791
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005828.5 → NP_005819.3  DDB1- and CUL4-associated factor 7

    See identical proteins and their annotated locations for NP_005819.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
    Source sequence(s)
    AC046185, BF507629, HY023965, U94747
    Consensus CDS
    CCDS74127.1
    UniProtKB/Swiss-Prot
    B4E039, D3DU14, O15491, P61962, Q9DAE4
    UniProtKB/TrEMBL
    A0A8I5KRG1
    Related
    ENSP00000483236.1, ENST00000614556.5
    Conserved Domains (2) summary
    sd00039
    Location:71 → 116
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:19 → 295
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RNA

  1. NR_073585.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC001264, HY023965
    Related
    ENST00000686787.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    63550477..63594266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    64421091..64464885
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001003725.1: Suppressed sequence

    Description
    NM_001003725.1: This RefSeq was permanently suppressed because it contains the wrong CDS.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P61962.1 GenPept UniProtKB/Swiss-Prot:P61962

Gene LinkOut

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