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    DCAF8 DDB1 and CUL4 associated factor 8 [ Homo sapiens (human) ]

    Gene ID: 50717, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DCAF8provided by HGNC
    Official Full Name
    DDB1 and CUL4 associated factor 8provided by HGNC
    Primary source
    HGNC:HGNC:24891
    See related
    Ensembl:ENSG00000132716 MIM:615820; AllianceGenome:HGNC:24891
    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
    GAN2; H326; WDR42A
    Summary
    This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
    Expression
    Ubiquitous expression in thyroid (RPKM 31.0), brain (RPKM 23.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DCAF8 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160215720..160262549, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159352793..159399623, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160185510..160232339, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene calsequestrin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1459 Neighboring gene uncharacterized LOC729867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160179879-160180545 Neighboring gene proliferation and apoptosis adaptor protein 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1460 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160231274-160232222 Neighboring gene DCAF8 divergent transcript Neighboring gene ribosomal protein SA pseudogene 18 Neighboring gene uncharacterized LOC107985219 Neighboring gene peroxisomal biogenesis factor 19

    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. CRL4-DCAF8L1 Regulates BRCA1 and BARD1 Protein Stability. Liu F, et al. Int J Biol Sci, 2022. PMID 35280675, Free PMC Article
    2. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. Klein CJ, et al. Neurology, 2014 Mar 11. PMID 24500646, Free PMC Article
    3. Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor. Huang YH, et al. Cancer Discov, 2022 Jan. PMID 34429321, Free PMC Article
    4. Characterization of nuclear import and export signals determining the subcellular localization of WD repeat-containing protein 42A (WDR42A). Wu F, et al. FEBS Lett, 2012 Apr 24. PMID 22500989
    5. A genome-scale CRISPR-Cas9 screening method for protein stability reveals novel regulators of Cdc25A. Wu Y, et al. Cell Discov, 2016. PMID 27462461, Free PMC Article

    See all (86) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CRL4-DCAF8L1 Regulates BRCA1 and BARD1 Protein Stability.
      Title: CRL4-DCAF8L1 Regulates BRCA1 and BARD1 Protein Stability.
    2. CRL4(DCAF8) and USP11 oppositely regulate the stability of myeloid leukemia factors (MLFs).
      Title: CRL4(DCAF8) and USP11 oppositely regulate the stability of myeloid leukemia factors (MLFs).
    3. DCAF8 p.R317C mutation is responsible for specific variety of HMSN2 with infrequent giant axons and mild cardiomyopathy.
      Title: Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons.
    4. WDR42A is a nucleocytoplasmic shuttling protein.
      Title: Characterization of nuclear import and export signals determining the subcellular localization of WD repeat-containing protein 42A (WDR42A).
    5. while RNF10 and WDR42A or VP22 alone showed distinct subcellular localization patterns, RNF10 and WDR42A were relocated when co-expressed with VP22 or its homologues; these potential host cell factors of VP22 might expand the list of host targets of VP22
      Title: Host cell targets of tegument protein VP22 of herpes simplex virus 1.
    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

    Associated conditions

    Description Tests
    Giant axonal neuropathy 2
    MedGen: C1864695 OMIM: 610100 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr is identified to have a physical interaction with DDB1 and CUL4 associated factor 8 (DCAF8; WDR42A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: PEX19

    Homology

    Clone Names

    • FLJ35857, MGC99640, MGC117276, MGC118891, DKFZp781G1096

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cul4-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    DDB1- and CUL4-associated factor 8
    Names
    WD repeat domain 42A
    WD repeat-containing protein 42A

    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_034154.2 RefSeqGene

      Range
      5000..51829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015726.4 → NP_056541.2  DDB1- and CUL4-associated factor 8

      See identical proteins and their annotated locations for NP_056541.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AL139011
      Consensus CDS
      CCDS1200.1
      UniProtKB/Swiss-Prot
      D3DVE6, Q12839, Q4QQI6, Q53F14, Q5TAQ9, Q66K50, Q68CS7, Q96E00
      UniProtKB/TrEMBL
      B7Z8C9
      Related
      ENSP00000357053.1, ENST00000368074.6
      Conserved Domains (2) summary
      sd00039
      Location:198 → 234
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:189 → 506
      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_028103.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is expected to inhibit the translation of the longest ORF; translation of the upstream ORF would result in nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL139011

    2. NR_028104.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is expected to inhibit the translation of the longest ORF; translation of the upstream ORF would result in nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL139011

    3. NR_028105.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' region and differs in the presence and absence of exons in the 3' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is expected to inhibit the translation of the longest ORF; translation of the upstream ORF would result in nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL139011, BC111063, DC296401
      Related
      ENST00000610139.5

    4. NR_028106.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate exon and uses an alternate splice site in the 5' region, and differs in the presence and absence of exons in the 3' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is expected to inhibit the translation of the longest ORF; translation of the upstream ORF would result in nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL139011, BC013107, BC111063, BP359560
      Related
      ENST00000475733.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      160215720..160262549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      159352793..159399623 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TAQ9.1 GenPept UniProtKB/Swiss-Prot:Q5TAQ9

    Gene LinkOut

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

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