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

    Gene ID: 10238, updated on 3-May-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
    mouse all
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    Genomic context

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    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.
    Submit: New GeneRIF Correction

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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