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Aliases & Descriptionsfor DCAF17 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions DDB1 and CUL4 associated factor 171 2 FLJ442102 C2orf372 3 5 DKFZp781C20862 FLJ130961 2 DDB1- and CUL4-associated factor 172 chromosome 2 open reading frame 371
Export aliases for DCAF17 gene to outside databases Previous GC identifers: GC02P171999 GC02P172290
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Summariesfor DCAF17 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
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) UniProtKB/Swiss-Prot: DCA17_HUMAN, Q5H9S7 Function : May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex
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Genomic Viewsfor 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 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: Search SABiosciences Regulatory transcription factor binding sites for DCAF17 Other transcription factors Search SABiosciences Chromatin IP Primers for DCAF17 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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) GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02P164177: view genomic region
(about GC identifiers )
Start:
164,176,253 bp from pter
End:
164,227,023 bp from pter
Size:
50,771 bases
Orientation:
plus strand
1 alternative location : Chr 2+ 172,290,727-172,341,562
RefSeq DNA sequence: NC_000002.11 NT_005403.17
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Proteinsfor DCAF17 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
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 toPubMed:19026396, it is a nucleolar protein, while sequence analysis programs clearly predict 2 transmembrane regions
Secondary accessions : B2RTW5 Q53TN3 Q9H908Alternative splicing : 2 isoforms : Q5H9S7-1 Q5H9S7-2 Explore the universe of human proteins at neXtProt for DCAF17: NX_Q5H9S7
REFSEQ proteins (2 alternative transcripts):
NP_001158293.1 NP_079276.2 ENSEMBL proteins: ENSP00000403992 ENSP00000400335 ENSP00000364404 ENSP00000342160 Human Recombinant Proteins 5 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
About this table
DCAF17 for ontologies About GeneDecksing Antibodies for DCAF17: Assays for DCAF17:
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Protein
Domains/ Familiesfor 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
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Gene Functionfor DCAF17 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: DCA17_HUMAN, Q5H9S7 Function : May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex
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Pathways & Interactionsfor DCAF17 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section UniProtKB/Swiss-Prot: DCA17_HUMAN, Q5H9S7 Pathway : Protein modification; protein ubiquitination SABiosciences Custom Pathway-Focused PCR Arrays for DCAF17 Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DCAF17
1 Gene Ontology (GO) biological process term (GO ID links to tree view) :
About this table
DCAF17 for ontologies About GeneDecksing
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Drugs & Compoundsfor DCAF17 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section Browse Tocris compounds for DCAF17
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Transcriptsfor DCAF17 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for DCAF17 gene (2 alternative transcripts): NM_001164821.1 NM_025000.3
Additional cDNA sequence: AK021599.1 AK126198.1 AK307877.1 BC120957.1 BC120958.1 BC140843.1 BC144653.1 CR602094.1 CR933646.1
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 ):
BM720879 AK021599 BG680067 CB160658 CB114970 AK126198 AU118032 CR602094 BM676973 BG623165 CF553037 AU131475 AA649549 BX497326 AA652163 AU152989 BG621712 BX951169 BX283979 AL514672 AL700235 BI465084 AU131202 NM_025000 Unigene Cluster for DCAF17:
DDB1 and CUL4 associated factor 17 Hs.659439 [show with all ESTs ] Unigene Representative Sequence: NM_025000 GeneLoc Exon Structure 10 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000480855 ENST00000493106 ENST00000431110 ENST00000436317 ENST00000490217 ENST00000375255 (uc010zdq.1 uc010fqf.1 uc002ugx.2 uc010zdr.1 uc010fqg.2 )ENST00000495925 ENST00000468592 ENST00000498486 ENST00000339506
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Expression for DCAF17 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section DCAF17 expression in normal and diseased human tissues 1 / 2
4 probe-sets matching DCAF17 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
231921_at2
U133-B
1
1.00
1.00
--
--
--
--
--
--
--
220172_at2
U133-A
1
0.91
1.00
--
--
--
--
--
--
--
231921_at2
U133Plus2
1
1.00
1.00
--
--
--
--
--
--
--
220172_at2
U133Plus2
1
0.91
1.00
--
--
--
--
--
--
--
About this table Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TGTCAGTGAT SOURCE GeneReport for Unigene cluster: Hs.659439 UniProtKB/Swiss-Prot: DCA17_HUMAN, Q5H9S7 Tissue specificity : Ubiquitously expressed
SABiosciences Custom PCR Arrays for DCAF17
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Orthologsfor DCAF17 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for DCAF17 gene from 5/7 species (see all 7 )
About this table Species with no ortholog for DCAF17 ENSEMBL Gene Tree for DCAF17 (if available)
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Paralogsfor DCAF17 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section --
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Genomic Variantsfor DCAF17 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 2 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for DCAF17 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for DCAF17: --
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Disorders & Mutationsfor DCAF17 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
DCAF17 for disorders About GeneDecksing
OMIM: 612515 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 Human Gene Mutation Database (HGMD) : DCAF17 Export disorders and mutations for DCAF17 gene to outside databases
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Medical Newsfor DCAF17 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor DCAF17 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 10/11 PubMed articles for DCAF17 gene, integrated from 7 sources (see all 11 ): (articles sorted by number of sources associating them with DCAF17) 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) 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) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) Network organization of the human autophagy system. (PubMed id 20562859) 1 Behrends C....Harper J.W. (2010) C2orf37 mutational spectrum in Woodhouse-Sakati syndr ome patients. (PubMed id 20507343) 1 Alazami A.M....Alkuraya F.S. (2010) DCAFs, the missing link of the CUL4-DDB1 ubiquitin ligase. (PubMed id 17588513) 1 Lee J. and Zhou P. (2007) The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005) 2 Bechtel S.... Schupp I. (2007) Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621) 2 Hillier L.W....Wilson R.K. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 2 Gerhard D.S....Malek J. (2004) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002)
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External Searches for DCAF17 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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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
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Other Databases showing DCAF17 gene
(According to HUGE )
About This Section --
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Specialized Databases showing DCAF17 gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for DCAF17 gene: Search GeneIP for patents involving DCAF17 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor DCAF17 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
Search Tocris compounds for DCAF17
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