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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DCAF17 Gene

protein-coding   GIFtS: 45
GCID: GC02P172290

DDB1 and CUL4 associated factor 17

(Previous name: chromosome 2 open reading frame 37 )
(Previous symbol: C2orf37)
 Explore 7 diseases affiliated with
DCAF17 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DCAF17    

Aliases
for DCAF17 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
DDB1 And CUL4 Associated Factor 171 2
C2orf371 2 3 5
FLJ130961
Chromosome 2 Open Reading Frame 371
DDB1- And CUL4-Associated Factor 172

External Ids:    HGNC: 257841   Entrez Gene: 800672   Ensembl: ENSG000001158277   OMIM: 6125155   UniProtKB: Q5H9S73   
ORGUL members:         
NONCODE:n408281    

Export aliases for DCAF17 gene to outside databases

Previous GC identifers: GC02P171999 GC02P164177


Summaries
for DCAF17 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DCAF17:
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)

UniProtKB/Swiss-Prot: DCA17_HUMAN, Q5H9S7
Function: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex

Gene Wiki entry for DCAF17


Genomic Views
for DCAF17 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DCAF17
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DCAF17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DCAF17


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.1

DCAF17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCAF17 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P172290:  view genomic region     (about GC identifiers)

Start:
 172,290,727 bp from pter      End:
 172,341,562 bp from pter
Size:
 50,836 bases      Orientation:
 plus strand

Proteins
for DCAF17 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DCA17_HUMAN, Q5H9S7 (See protein sequence)
Recommended Name: DDB1- and CUL4-associated factor 17  
Size: 520 amino acids; 58778 Da
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
Secondary accessions: B2RTW5 Q53TN3 Q9H908
Alternative splicing: 2 isoforms:  Q5H9S7-1   Q5H9S7-2   

Explore the universe of human proteins at neXtProt for DCAF17: NX_Q5H9S7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5H9S7

    • DCAF17 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001158293.1  NP_079276.2  

    ENSEMBL proteins: 
     ENSP00000364404   ENSP00000400335   ENSP00000342160   ENSP00000403992   ENSP00000442238  

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    Uscn Proteins for DCAF17

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--
    GO:0016021integral to membrane IEA--
    GO:0080008Cul4-RING ubiquitin ligase complex IDA16949367


    DCAF17 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for DCAF17 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q5H9S7


    Function
    for DCAF17 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: DCA17_HUMAN, Q5H9S7
    Function: May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex

    miRNA
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    hsa-miR-140-5p hsa-miR-498 hsa-miR-128 hsa-miR-373* hsa-miR-629* hsa-miR-3658 hsa-miR-532-5p hsa-miR-15b*
    SwitchGear 3'UTR luciferase reporter plasmid: DCAF17 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Pathways & Interactions
    for DCAF17 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    UniProtKB/Swiss-Prot: DCA17_HUMAN, Q5H9S7
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DCAF17

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/21 Interacting proteins for DCAF17 (Q5H9S73 ENSP000003644044) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDA1Q9BW613, ENSP000003529284I2D: score=3 STRING: ENSP00000352928
    CUL4AQ136193, ENSP000003645894I2D: score=1 STRING: ENSP00000364589
    CUL4BQ136203, ENSP000003841094I2D: score=1 STRING: ENSP00000384109
    DDB1Q165313, ENSP000003017644I2D: score=1 STRING: ENSP00000301764
    ERCC8ENSP000002650384STRING: ENSP00000265038
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016567protein ubiquitination IEA--


    DCAF17 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DCAF17 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DCAF17
    Search CenterWatch for drugs/clinical trials and news about DCAF17 / DCA17 

    Transcripts
    for DCAF17 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DCAF17 gene (2 alternative transcripts): 
    NM_001164821.1  NM_025000.3  

    Unigene Cluster for DCAF17:

    DDB1 and CUL4 associated factor 17
    Hs.659439  [show with all ESTs]
    Unigene Representative Sequence: NM_025000
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468592 ENST00000375255(uc010zdq.2 uc002ugx.3 uc010zdr.2 uc010fqf.2 uc010fqg.3)
    ENST00000495925 ENST00000436317 ENST00000490217 ENST00000480855 ENST00000339506
    ENST00000493106 ENST00000431110 ENST00000498486 ENST00000539783

    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate DCAF17 (see all 21):
    hsa-miR-140-5p hsa-miR-498 hsa-miR-128 hsa-miR-373* hsa-miR-629* hsa-miR-3658 hsa-miR-532-5p hsa-miR-15b*
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK021599.1 AK126198.1 AK307877.1 BC120957.1 BC120958.1 BC140843.1 BC144653.1 CR933646.1 
    NR_028482.1 

    7 DOTS entries:

    DT.91658372  DT.95138957  DT.40253084  DT.91639184  DT.102826066  DT.97784974  DT.100744706 

    24/65 AceView cDNA sequences (see all 65):

    AK126198 AU118032 AK021599 CB160658 BM676973 CB114970 CR602094 BM720879 
    BG680067 BG621712 AL514672 AA883642 BX951177 NM_025000 AU152989 AU131475 
    BG623165 BX480715 BX497326 AL700235 AA652163 CF553037 CB215022 AK023158 

    GeneLoc Exon Structure


    Expression
    for DCAF17 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DCAF17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTCAGTGAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See DCAF17 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DCAF17

    SOURCE GeneReport for Unigene cluster: Hs.659439

    UniProtKB/Swiss-Prot: DCA17_HUMAN, Q5H9S7
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    Orthologs
    for DCAF17 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for DCAF17 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Dcaf171 , 5 DDB1 and CUL4 associated factor 171, 5 89.64(n)1
    90.93(a)1    		   2 (42.38 cM)5
    757631  NM_001165980.11  NP_001159452.11 
     710553285 
    chicken
    (Gallus gallus)    		 Aves DCAF171 DDB1 and CUL4 associated factor 17 74.4(n)
    74.85(a)    		   424153  XM_422000.3  XP_422000.2 
    lizard
    (Anolis carolinensis)    		 Reptilia DCAF176
    		 --
    		 67(a)
    		 1 ↔ 1
    		 GL343353.1(1026206-1058993)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BI312554.12   -- 75.4(n)    BI312554.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii dcaf171 ddb1 and cul4 associated factor 17 59.27(n)
    52.02(a)    		   558828  NM_001144789.1  NP_001138261.1 


    ENSEMBL Gene Tree for DCAF17 (if available)
    TreeFam Gene Tree for DCAF17 (if available) 

    Paralogs
    for DCAF17 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for DCAF17 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/820 NCBI SNPs in DCAF17 are shown (see all 820)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs760597361,2
    		F,--164179398(+) TTGACC/TATAGA 3 -- int12Minor allele frequency- T:0.07NA EA 240
    rs796298801,2
    		C,--164179961(+) GATTAC/TGATTT 3 -- int12Minor allele frequency- T:0.05WA 120
    rs1131544181,2
    		--164180205(+) TAATAC/TCACTA 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs559741811,2
    		F,--164180306(+) GTTTCG/ATGTAA 3 -- int11Minor allele frequency- A:0.04NA 120
    rs1136461831,2
    		--164180465(+) TATAAC/TAGTGA 3 -- int11Minor allele frequency- T:0.50CSA 2
    rs730229301,2
    		C,F,--164180513(+) TTTGCC/TACATT 3 -- int13Minor allele frequency- T:0.10WA CSA 122
    rs744840351,2
    		C,F,--164180597(+) TTCATT/GATCTT 3 -- int11Minor allele frequency- G:0.07NA 120
    rs771050721,2
    		--164181106(+) CCCCTG/ATATAG 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs1116194361,2
    		C,--164181313(+) CTCCAA/GTTTTC 3 -- int12Minor allele frequency- G:0.03CSA WA 120
    rs587965651,2
    		C,--164181488(+) GTTTTT/CTGATT 3 -- int13Minor allele frequency- C:0.11WA CSA 121

    HapMap Linkage Disequilibrium report for DCAF17 (172290727 - 172341562 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DCAF17: --
    Human Gene Mutation Database (HGMD): DCAF17

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    Disorders / Diseases
    for DCAF17 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DCAF17 for disorders           About GeneDecksing

    OMIM gene information: 612515   
    OMIM disorders: 241080  
    UniProtKB/Swiss-Prot: DCA17_HUMAN, Q5H9S7
  • 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

    7 diseases for DCAF17:    About MalaCards
    sakati syndrome    hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome    hallervorden-spatz syndrome    intellectual disability
    diabetes mellitus    hypogonadism    alopecia

    2 diseases from the University of Copenhagen DISEASES database for DCAF17:
    Alopecia     Hypogonadism

    Export disorders for DCAF17 gene to outside databases

    Publications
    for DCAF17 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DCAF17 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with DCAF17)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. (PubMed id 19026396)1, 2 Alazami A.M.... Alkuraya F.S. (2008)
    2. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. (PubMed id 16949367)1, 2 Jin J.... Walter J.C. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Phenotypic heterogeneity in Woodhouse-Sakati syndrome : two new families with a mutation in the C2orf37 gene. (PubMed id 21964978)1 Ben-Omran T....Teebi A. (2011)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. A novel splice site mutation in gene C2orf37 underlyin g Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin . (PubMed id 21963443)1 Habib R....Ahmad W. (2011)
    7. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
    8. A novel C2orf37 mutation causes the first Italian cas es of Woodhouse Sakati syndrome. (PubMed id 21044051)1 Steindl K....Schneider S.A. (2010)
    9. C2orf37 mutational spectrum in Woodhouse-Sakati syndr ome patients. (PubMed id 20507343)1 Alazami A.M....Alkuraya F.S. (2010)
    10. An interaction network of the mammalian COP9 signalos ome identifies Dda1 as a core subunit of multiple Cul4-based E3 ligases. (PubMed id 19295130)1 Olma M.H....Pintard L. (2009)

    External Searches for DCAF17 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing DCAF17 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80067 HGNC: 25784 AceView: FLJ13096 Ensembl:ENSG00000115827 euGenes: HUgn80067
    ECgene: DCAF17 H-InvDB: DCAF17

    Other Databases showing DCAF17 gene

    (According to HUGE)
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    Specialized Databases showing DCAF17 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DCAF17 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DCAF17 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for DCAF17 gene:
    Search GeneIP for patents involving DCAF17

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