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Aliases for DCAF17 Gene

Aliases for DCAF17 Gene

  • DDB1 And CUL4 Associated Factor 17 2 3 5
  • C2orf37 3 4
  • DDB1- And CUL4-Associated Factor 17 3
  • Chromosome 2 Open Reading Frame 37 2
  • Woodhouse-Sakati Syndrome 2
  • C20orf37 3

External Ids for DCAF17 Gene

Previous HGNC Symbols for DCAF17 Gene

  • C2orf37

Previous GeneCards Identifiers for DCAF17 Gene

  • GC02P171999
  • GC02P172290
  • GC02P164177

Summaries for DCAF17 Gene

Entrez Gene Summary for DCAF17 Gene

  • This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

GeneCards Summary for DCAF17 Gene

DCAF17 (DDB1 And CUL4 Associated Factor 17) is a Protein Coding gene. Diseases associated with DCAF17 include Woodhouse-Sakati Syndrome and Sakati Syndrome.

UniProtKB/Swiss-Prot for DCAF17 Gene

  • May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

Gene Wiki entry for DCAF17 Gene

Additional gene information for DCAF17 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCAF17 Gene

Genomics for DCAF17 Gene

GeneHancer (GH) Regulatory Elements for DCAF17 Gene

Promoters and enhancers for DCAF17 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
GH02J171430 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 707.3 -1.0 -1017 5.2 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 ZNF263 SP3 DCAF17 METTL8 DAP3P2 GORASP2 RPS15P4 CYBRD1 TLK1 GC02M171404
GH02J172092 Promoter/Enhancer 3.4 VISTA UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 51.2 +664.0 664008 10.5 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 SP3 NFYC SSRP1 GLIS1 DLX2 DCAF17 DAP3P2 RPS15P4 METAP1D HAT1 ITGA6 ENSG00000232788 DLX1 DYNC1I2
GH02J170927 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31 -504.7 -504659 3.8 CLOCK MLX DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 GORASP2 GC02M170927 DAP3P2 DCAF17 RPS15P4 TLK1 GC02P170969
GH02J172246 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 43.5 +816.7 816731 8.9 ATF1 FOXA2 SIN3A ETS1 ZNF766 ZNF416 ATF7 FOS ZNF202 YY2 DCAF17 ITGA6 ENSG00000226963 METAP1D DAP3P2 GC02M172117 ENSG00000232555
GH02J170769 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 31 -663.1 -663078 2.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A SLC30A9 POLR2B E2F8 ZNF263 ERICH2 LOC101926913 ENSG00000239467 DCAF17 DAP3P2 RPS15P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DCAF17 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DCAF17 Gene

Genomic Locations for DCAF17 Gene
chr2:171,434,173-171,491,027
(GRCh38/hg38)
Size:
56,855 bases
Orientation:
Plus strand
chr2:172,290,727-172,341,562
(GRCh37/hg19)

Genomic View for DCAF17 Gene

Genes around DCAF17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCAF17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCAF17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCAF17 Gene

Proteins for DCAF17 Gene

  • Protein details for DCAF17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5H9S7-DCA17_HUMAN
    Recommended name:
    DDB1- and CUL4-associated factor 17
    Protein Accession:
    Q5H9S7
    Secondary Accessions:
    • B2RTW5
    • Q53TN3
    • Q9H908

    Protein attributes for DCAF17 Gene

    Size:
    520 amino acids
    Molecular mass:
    58778 Da
    Quaternary structure:
    • Interacts with DDB1, CUL4A and CUL4B.

    Alternative splice isoforms for DCAF17 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCAF17 Gene

Post-translational modifications for DCAF17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DCAF17 Gene

Domains & Families for DCAF17 Gene

Gene Families for DCAF17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DCAF17 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DCAF17 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DCAF17: view

No data available for UniProtKB/Swiss-Prot for DCAF17 Gene

Function for DCAF17 Gene

Molecular function for DCAF17 Gene

UniProtKB/Swiss-Prot Function:
May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

Phenotypes From GWAS Catalog for DCAF17 Gene

Gene Ontology (GO) - Molecular Function for DCAF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16949367
genes like me logo Genes that share ontologies with DCAF17: view
genes like me logo Genes that share phenotypes with DCAF17: view

Human Phenotype Ontology for DCAF17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DCAF17 Gene

Localization for DCAF17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCAF17 Gene

Membrane; Multi-pass membrane protein. Nucleus, nucleolus. Note=According to PubMed:19026396, it is a nucleolar protein, while sequence analysis programs clearly predict 2 transmembrane regions.

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 DCAF17 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DCAF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DCAF17: view

Pathways & Interactions for DCAF17 Gene

SuperPathways for DCAF17 Gene

No Data Available

UniProtKB/Swiss-Prot Q5H9S7-DCA17_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for DCAF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with DCAF17: view

No data available for Pathways by source and SIGNOR curated interactions for DCAF17 Gene

Drugs & Compounds for DCAF17 Gene

No Compound Related Data Available

Transcripts for DCAF17 Gene

Unigene Clusters for DCAF17 Gene

DDB1 and CUL4 associated factor 17:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DCAF17 Gene

No ASD Table

Relevant External Links for DCAF17 Gene

GeneLoc Exon Structure for
DCAF17
ECgene alternative splicing isoforms for
DCAF17

Expression for DCAF17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DCAF17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DCAF17 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DCAF17 Gene



Protein tissue co-expression partners for DCAF17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DCAF17 Gene:

DCAF17

SOURCE GeneReport for Unigene cluster for DCAF17 Gene:

Hs.659439

mRNA Expression by UniProt/SwissProt for DCAF17 Gene:

Q5H9S7-DCA17_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for DCAF17 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DCAF17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
  • hypothalamus
  • neck
  • pituitary gland
  • thyroid
Thorax:
  • breast
  • heart
  • heart valve
Abdomen:
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with DCAF17: view

No data available for mRNA differential expression in normal tissues for DCAF17 Gene

Orthologs for DCAF17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DCAF17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DCAF17 34 33
  • 99.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DCAF17 34 33
  • 93.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dcaf17 16 34 33
  • 89.64 (n)
rat
(Rattus norvegicus)
Mammalia Dcaf17 33
  • 89.43 (n)
cow
(Bos Taurus)
Mammalia DCAF17 34 33
  • 88.84 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DCAF17 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DCAF17 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves DCAF17 34 33
  • 74.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DCAF17 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dcaf17 33
  • 66.87 (n)
zebrafish
(Danio rerio)
Actinopterygii dcaf17 34 33
  • 59.27 (n)
OneToOne
Species where no ortholog for DCAF17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DCAF17 Gene

ENSEMBL:
Gene Tree for DCAF17 (if available)
TreeFam:
Gene Tree for DCAF17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DCAF17: view image

Paralogs for DCAF17 Gene

(26) SIMAP similar genes for DCAF17 Gene using alignment to 5 proteins:

  • DCA17_HUMAN
  • F5H7W1_HUMAN
  • H0Y2X0_HUMAN
  • H7C1H3_HUMAN
  • H7C244_HUMAN
genes like me logo Genes that share paralogs with DCAF17: view

No data available for Paralogs for DCAF17 Gene

Variants for DCAF17 Gene

Sequence variations from dbSNP and Humsavar for DCAF17 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1041113422 uncertain-significance, Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 171,434,569(+) C/G/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, upstream_transcript_variant
rs1048907439 uncertain-significance, Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 171,483,861(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs112519318 likely-benign, Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 171,483,462(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs114419034 uncertain-significance, Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 171,468,962(+) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs114519296 uncertain-significance, Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities 171,482,955(+) G/C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DCAF17 Gene

Variant ID Type Subtype PubMed ID
esv3437307 CNV insertion 20981092
nsv1131528 CNV deletion 24896259
nsv961530 CNV duplication 23825009

Variation tolerance for DCAF17 Gene

Residual Variation Intolerance Score: 22.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.25; 52.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCAF17 Gene

Human Gene Mutation Database (HGMD)
DCAF17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCAF17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCAF17 Gene

Disorders for DCAF17 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DCAF17 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
woodhouse-sakati syndrome
  • hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome
sakati syndrome
  • acps with leg hypoplasia
alopecia
hypogonadism
neurodegeneration with brain iron accumulation 6
  • nbia6
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DCA17_HUMAN
  • Woodhouse-Sakati syndrome (WoSaS) [MIM:241080]: Rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. {ECO:0000269 PubMed:19026396}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DCAF17

genes like me logo Genes that share disorders with DCAF17: view

No data available for Genatlas for DCAF17 Gene

Publications for DCAF17 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 58
  2. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. (PMID: 19026396) Alazami AM … Alkuraya FS (American journal of human genetics 2008) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. (PMID: 26612766) Ali RH … Ahmad W (Clinical genetics 2016) 3 58

Products for DCAF17 Gene

Sources for DCAF17 Gene

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