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

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CRL4-DCAF8L1 Regulates BRCA1 and BARD1 Protein Stability.
Title: CRL4-DCAF8L1 Regulates BRCA1 and BARD1 Protein Stability.
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).
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.
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).
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.

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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

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

D1S2401 (e-PCR)
- UniSTS:37660

RH70540 (e-PCR)
- UniSTS:54055

SHGC-142667 (e-PCR)
- UniSTS:171580

WI-13987 (e-PCR)
- UniSTS:4938

AL033897 (e-PCR)
- UniSTS:93773

WI-13746 (e-PCR)
- UniSTS:20587

RH69736 (e-PCR)
- UniSTS:30326

RH119009 (e-PCR)
- UniSTS:138977

WDR42A (e-PCR)
- UniSTS:503795

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

NG_034154.2 RefSeqGene

Range

5000..51829

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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
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
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
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