Human Gene DCAF17 (ENST00000375255.8_7) from GENCODE V47lift37
  Description: DDB1 and CUL4 associated factor 17, transcript variant 3 (from RefSeq NR_028482.2)
Gencode Transcript: ENST00000375255.8_7
Gencode Gene: ENSG00000115827.14_10
Transcript (Including UTRs)
   Position: hg19 chr2:172,290,736-172,341,562 Size: 50,827 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr2:172,291,088-172,337,624 Size: 46,537 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:172,290,736-172,341,562)mRNA (may differ from genome)Protein (520 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DCA17_HUMAN
DESCRIPTION: RecName: Full=DDB1- and CUL4-associated factor 17;
FUNCTION: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with DDB1, CUL4A and CUL4B.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Nucleus, nucleolus. Note=According to PubMed:19026396, it is a nucleolar protein, while sequence analysis programs clearly predict 2 transmembrane regions.
TISSUE SPECIFICITY: Ubiquitously expressed.
DISEASE: Defects in DCAF17 are the cause of Woodhouse-Sakati syndrome (WoSaS) [MIM:241080]; also abbreviated WSS. WoSaS is a rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DCAF17
Diseases sorted by gene-association score: woodhouse-sakati syndrome* (1052), sakati syndrome (50), alopecia (12), neurodegeneration with brain iron accumulation 6 (7), neurodegeneration with brain iron accumulation 3 (6), hypotrichosis (6), hair disease (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.29 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 194.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -174.10352-0.495 Picture PostScript Text
3' UTR -940.903938-0.239 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF15802 - DDB1- and CUL4-associated factor 17

SCOP Domains:
54637 - Thioesterase/thiol ester dehydrase-isomerase

ModBase Predicted Comparative 3D Structure on Q5H9S7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0016567 protein ubiquitination
GO:0043687 post-translational protein modification

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0080008 Cul4-RING E3 ubiquitin ligase complex


-  Descriptions from all associated GenBank mRNAs
  AK023158 - Homo sapiens cDNA FLJ13096 fis, clone NT2RP3002166.
JD500444 - Sequence 481468 from Patent EP1572962.
AK307877 - Homo sapiens cDNA, FLJ97825.
CR933646 - Homo sapiens mRNA; cDNA DKFZp781C2086 (from clone DKFZp781C2086).
BC144653 - Homo sapiens cDNA clone IMAGE:9053184.
BC140843 - Homo sapiens chromosome 2 open reading frame 37, mRNA (cDNA clone MGC:176520 IMAGE:9021711), complete cds.
BC120957 - Homo sapiens chromosome 2 open reading frame 37, mRNA (cDNA clone IMAGE:40115257), complete cds.
BC120958 - Homo sapiens chromosome 2 open reading frame 37, mRNA (cDNA clone IMAGE:40115259), partial cds.
JD094936 - Sequence 75960 from Patent EP1572962.
JD066977 - Sequence 48001 from Patent EP1572962.
JD060823 - Sequence 41847 from Patent EP1572962.
JD328858 - Sequence 309882 from Patent EP1572962.
AK126198 - Homo sapiens cDNA FLJ44210 fis, clone THYMU3002578.
JD042813 - Sequence 23837 from Patent EP1572962.
JD074101 - Sequence 55125 from Patent EP1572962.
JD379403 - Sequence 360427 from Patent EP1572962.
JD500660 - Sequence 481684 from Patent EP1572962.
JD261399 - Sequence 242423 from Patent EP1572962.
JD509645 - Sequence 490669 from Patent EP1572962.
JD074199 - Sequence 55223 from Patent EP1572962.
AK021599 - Homo sapiens cDNA FLJ11537 fis, clone HEMBA1002742.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5H9S7 (Reactome details) participates in the following event(s):

R-HSA-8955245 CAND1 binds CRL4 E3 ubiquitin ligase in the nucleus
R-HSA-8955285 COMMDs displace CAND1 from CRL4 E3 ubiquitin ligase complex
R-HSA-8952639 NEDD8:AcM-UBE2M binds CRL4 E3 ubiquitin ligase complex
R-HSA-8956045 COP9 signalosome deneddylates nuclear CRL4 E3 ubiquitin ligase complex
R-HSA-8952638 AcM-UBE2M transfers NEDD8 to CRL4 E3 ubiquitin ligase complex
R-HSA-8951664 Neddylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2RTW5, C2orf37, DCA17_HUMAN, ENST00000375255.1, ENST00000375255.2, ENST00000375255.3, ENST00000375255.4, ENST00000375255.5, ENST00000375255.6, ENST00000375255.7, NR_028482, Q53TN3, Q5H9S7, Q9H908, uc318mdm.1, uc318mdm.2
UCSC ID: ENST00000375255.8_7
RefSeq Accession: NM_025000.4
Protein: Q5H9S7 (aka DCA17_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DCAF17:
dystonia-ov (Hereditary Dystonia Overview)
nbia-ov (Neurodegeneration with Brain Iron Accumulation Disorders Overview)
wss (Woodhouse-Sakati Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.