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

Gene ID: 50717, updated on 26-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
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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

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

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