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 ... See more...

Aliases for DCAF7 Gene

Aliases for DCAF7 Gene

  • DDB1 And CUL4 Associated Factor 7 2 3 5
  • HAN11 2 3 4
  • Seven-WD-Repeat Protein Of The AN11 Family-1 2 3
  • WD Repeat-Containing Protein An11 Homolog 3 4
  • DDB1- And CUL4-Associated Factor 7 3 4
  • WD Repeat-Containing Protein 68 3 4
  • Human Anthocyanin 2 3
  • SWAN-1 2 3
  • WDR68 3 4
  • WD Repeat Domain 68 2
  • DCAF7 5
  • AN11 3

External Ids for DCAF7 Gene

Previous HGNC Symbols for DCAF7 Gene

  • WDR68

Previous GeneCards Identifiers for DCAF7 Gene

  • GC17P058983
  • GC17P061627
  • GC17P056994

Summaries for DCAF7 Gene

Entrez Gene Summary for DCAF7 Gene

  • 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]

GeneCards Summary for DCAF7 Gene

DCAF7 (DDB1 And CUL4 Associated Factor 7) is a Protein Coding gene. Diseases associated with DCAF7 include Mental Retardation, Autosomal Dominant 7 and Epidermodysplasia Verruciformis 1. Among its related pathways are Chaperonin-mediated protein folding and Metabolism of proteins.

UniProtKB/Swiss-Prot Summary for DCAF7 Gene

  • Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches (By similarity). Associates with DIAPH1 and controls GLI1 transcriptional activity. Could be involved in normal and disease skin development. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

Gene Wiki entry for DCAF7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DCAF7 Gene

Genomics for DCAF7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DCAF7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J063549 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 255.6 +0.5 495 3.9 BCLAF1 SP1 ZNF207 NCOR1 ZNF600 IKZF1 MYC SSRP1 ZNF580 ZNF592 DCAF7 CEP95 FTSJ3 POLG2 DDX42 SMARCD2 DDX5 RNU6-288P TACO1 CYB561
GH17J063545 Promoter 0.4 EPDnew 250.7 -4.7 -4702 0.1 NFIA DCAF7 HSALNG0118008 KCNH6
GH17J063837 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 29.3 +290.5 290494 7.4 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF600 ZNF580 ZNF592 ZMYM3 SMARCD2 HSALNG0118043 HSALNG0118044 HSALNG0118045 lnc-PSMC5-10 lnc-PSMC5-3 FTSJ3 CEP95 DDX42 POLG2
GH17J063600 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 30 +50.8 50799 2.5 BCLAF1 SP1 ZNF654 ZNF207 MYC ZNF600 SIX5 SSRP1 ZNF580 ZMYM3 NONHSAG022459.2 TACO1 POLG2 CEP95 FTSJ3 DDX42 DDX5 SMARCD2 DCAF7 MAP3K3
GH17J064500 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 +954.6 954585 8.3 LARP7 BCLAF1 SP1 ZNF207 IKZF1 NCOR1 ZNF600 MYC SSRP1 JUND CEP95 POLG2 DDX5 lnc-POLG2-1 DDX42 FTSJ3 SLC16A6P1 ENSG00000265982 PLEKHM1P1 SMARCD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DCAF7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DCAF7

Genomic Locations for DCAF7 Gene

Latest Assembly
chr17:63,550,477-63,594,279
(GRCh38/hg38)
Size:
43,803 bases
Orientation:
Plus strand

Previous Assembly
chr17:61,627,838-61,671,628
(GRCh37/hg19 by Entrez Gene)
Size:
43,791 bases
Orientation:
Plus strand

chr17:61,627,822-61,671,639
(GRCh37/hg19 by Ensembl)
Size:
43,818 bases
Orientation:
Plus strand

Genomic View for DCAF7 Gene

Genes around DCAF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCAF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCAF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCAF7 Gene

Proteins for DCAF7 Gene

  • Protein details for DCAF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61962-DCAF7_HUMAN
    Recommended name:
    DDB1- and CUL4-associated factor 7
    Protein Accession:
    P61962
    Secondary Accessions:
    • B4E039
    • D3DU14
    • O15491
    • Q9DAE4

    Protein attributes for DCAF7 Gene

    Size:
    342 amino acids
    Molecular mass:
    38926 Da
    Quaternary structure:
    • Interacts with DYRK1A, DYRK1B and DIAPH1. Interacts with DDB1. Interacts with ZNF703. Interacts with human adenovirus 5 E1A protein (PubMed:23864635).

    Alternative splice isoforms for DCAF7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCAF7 Gene

Post-translational modifications for DCAF7 Gene

  • Ubiquitination at Lys30, Lys73, Lys81, and Lys167
  • Modification sites at PhosphoSitePlus

Other Protein References for DCAF7 Gene

No data available for DME Specific Peptides for DCAF7 Gene

Domains & Families for DCAF7 Gene

Gene Families for DCAF7 Gene

Suggested Antigen Peptide Sequences for DCAF7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54214, highly similar to WD repeat protein 68 (B4E039_HUMAN)
  • WD repeat-containing protein An11 homolog (DCAF7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61962

UniProtKB/Swiss-Prot:

DCAF7_HUMAN :
  • Belongs to the WD repeat DCAF7 family.
Family:
  • Belongs to the WD repeat DCAF7 family.
genes like me logo Genes that share domains with DCAF7: view

Function for DCAF7 Gene

Molecular function for DCAF7 Gene

UniProtKB/Swiss-Prot Function:
Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches (By similarity). Associates with DIAPH1 and controls GLI1 transcriptional activity. Could be involved in normal and disease skin development. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

Phenotypes From GWAS Catalog for DCAF7 Gene

Gene Ontology (GO) - Molecular Function for DCAF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 14593110
GO:0030674 protein binding, bridging ISS --
genes like me logo Genes that share ontologies with DCAF7: view
genes like me logo Genes that share phenotypes with DCAF7: view

Animal Models for DCAF7 Gene

MGI Knock Outs for DCAF7:
  • Dcaf7 Dcaf7<tm1b(EUCOMM)Wtsi>

miRNA for DCAF7 Gene

miRTarBase miRNAs that target DCAF7

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCAF7

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DCAF7 Gene

Localization for DCAF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCAF7 Gene

Cytoplasm. Nucleus. Note=Overexpression of DIAHP1 or active RHOA causes translocation from the nucleus to cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DCAF7 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCAF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 9192870
GO:0005829 cytosol IDA --
GO:0016363 nuclear matrix IDA 21328542
genes like me logo Genes that share ontologies with DCAF7: view

Pathways & Interactions for DCAF7 Gene

genes like me logo Genes that share pathways with DCAF7: view

UniProtKB/Swiss-Prot P61962-DCAF7_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for DCAF7 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for DCAF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with DCAF7: view

Drugs & Compounds for DCAF7 Gene

(1) Additional Compounds for DCAF7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DCAF7: view

Transcripts for DCAF7 Gene

mRNA/cDNA for DCAF7 Gene

2 REFSEQ mRNAs :
29 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCAF7

Alternative Splicing Database (ASD) splice patterns (SP) for DCAF7 Gene

No ASD Table

Relevant External Links for DCAF7 Gene

GeneLoc Exon Structure for
DCAF7

Expression for DCAF7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DCAF7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DCAF7 Gene

This gene is overexpressed in Bone (17.9), Peripheral blood mononuclear cells (9.2), and Breast (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DCAF7 Gene



Protein tissue co-expression partners for DCAF7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DCAF7

SOURCE GeneReport for Unigene cluster for DCAF7 Gene:

Hs.410596

Evidence on tissue expression from TISSUES for DCAF7 Gene

  • Nervous system(4.5)
  • Liver(4.2)
  • Lung(3.3)
  • Eye(3)
  • Intestine(2.9)
  • Pancreas(2.2)
  • Skin(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with DCAF7: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DCAF7 Gene

Orthologs for DCAF7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DCAF7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DCAF7 29 30
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DCAF7 29 30
  • 93.86 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DCAF7 29
  • 92.69 (n)
WDR68 30
  • 42 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dcaf7 29
  • 92.4 (n)
Mouse
(Mus musculus)
Mammalia Dcaf7 29 16 30
  • 92.01 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DCAF7 30
  • 42 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DCAF7 29 30
  • 87.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DCAF7 30
  • 42 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dcaf7 29
  • 82.36 (n)
MGC75622 29
African clawed frog
(Xenopus laevis)
Amphibia cg14614-prov 29
Zebrafish
(Danio rerio)
Actinopterygii dcaf7 29 30
  • 82.55 (n)
OneToOne
wufj83g06 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11031 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000678 29
  • 72.98 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG14614 29 30
  • 72.06 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea swan-2 29 30
  • 60.9 (n)
OneToMany
swan-1 30
  • 20 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 30
  • 8 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ATAN11 29
  • 61.59 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9226 29
Soybean
(Glycine max)
eudicotyledons Gma.16640 29
Rice
(Oryza sativa)
Liliopsida Os02g0524600 29
  • 61.7 (n)
Os.10953 29
Wheat
(Triticum aestivum)
Liliopsida Ta.6823 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4534 30
  • 36 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5071 29
Species where no ortholog for DCAF7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DCAF7 Gene

ENSEMBL:
Gene Tree for DCAF7 (if available)
TreeFam:
Gene Tree for DCAF7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DCAF7: view image
Alliance of Genome Resources:
Additional Orthologs for DCAF7

Paralogs for DCAF7 Gene

No data available for Paralogs for DCAF7 Gene

Variants for DCAF7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DCAF7 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs143007748 Benign: not provided 63,578,577(+) C/T
NM_005828.5(DCAF7):c.246C>T (p.Gly82=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs35367480 Benign: not provided 63,579,922(+) G/A
NM_005828.5(DCAF7):c.507G>A (p.Gln169=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs546982068 Benign: not provided 63,550,698(+) G/A
NM_005828.5(DCAF7):c.21G>A (p.Arg7=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DCAF7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DCAF7 Gene

Variant ID Type Subtype PubMed ID
nsv1134665 CNV deletion 24896259
nsv952355 CNV deletion 24416366

Variation tolerance for DCAF7 Gene

Gene Damage Index Score: 0.04; 0.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCAF7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCAF7
Leiden Open Variation Database (LOVD)
DCAF7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCAF7 Gene

Disorders for DCAF7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DCAF7 Gene - From: COP

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 7
  • mrd7
epidermodysplasia verruciformis 1
  • epidermodysplasia verruciformis, susceptibility to, 1
chediak-higashi syndrome
  • chs
diamond-blackfan anemia 1
  • dba1
- elite association - COSMIC cancer census association via MalaCards
Search DCAF7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DCAF7

genes like me logo Genes that share disorders with DCAF7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DCAF7 Gene

Publications for DCAF7 Gene

  1. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. (PMID: 16949367) Jin J … Walter JC (Molecular cell 2006) 2 3 4
  2. HAN11 binds mDia1 and controls GLI1 transcriptional activity. (PMID: 16887337) Morita K … Watt FM (Journal of dermatological science 2006) 3 4 22
  3. The an11 locus controlling flower pigmentation in petunia encodes a novel WD-repeat protein conserved in yeast, plants, and animals. (PMID: 9192870) de Vetten N … Koes R (Genes & development 1997) 2 3 4
  4. ZNF703 gene amplification at 8p12 specifies luminal B breast cancer. (PMID: 21328542) Sircoulomb F … Ginestier C (EMBO molecular medicine 2011) 3 4
  5. The WD40-repeat protein Han11 functions as a scaffold protein to control HIPK2 and MEKK1 kinase functions. (PMID: 20940704) Ritterhoff S … Schmitz ML (The EMBO journal 2010) 2 3

Products for DCAF7 Gene

Sources for DCAF7 Gene