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

Summary

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

Location:: 17q23.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (63550477..63594266)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (64421091..64464885)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (61627838..61671628)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
DCAF7/WDR68 is required for normal levels of DYRK1A and DYRK1B
Title: DCAF7/WDR68 is required for normal levels of DYRK1A and DYRK1B.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

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See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-58841 (e-PCR)
- UniSTS:94468

Bdy96f01 (e-PCR)
- UniSTS:34574

D13S1454 (e-PCR)
- UniSTS:63252

WI-13939 (e-PCR)
- UniSTS:33051

SHGC-2405 (e-PCR)
- UniSTS:57121

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

WI-16977 (e-PCR)
- UniSTS:63301

SHGC-33981 (e-PCR)
- UniSTS:6519

RH80030 (e-PCR)
- UniSTS:87680

RH48027 (e-PCR)
- UniSTS:4999

RH66412 (e-PCR)
- UniSTS:35474

SHGC-34715 (e-PCR)
- UniSTS:62098

RH12320 (e-PCR)
- UniSTS:62618

STS-M78988 (e-PCR)
- UniSTS:77000

A002L25 (e-PCR)
- UniSTS:11213

RH35855 (e-PCR)
- UniSTS:66525

D17S1455E (e-PCR)
- UniSTS:150495

RH120635 (e-PCR)
- UniSTS:132576

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

NG_033092.2 RefSeqGene

Range

5002..48791

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

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