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DUX1 Gene

protein-coding   GIFtS: 30
GCID: GC10U901220

Double Homeobox 1

(Previous names: double homeobox, 1)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Double Homeobox 11 2
Double Homeobox, 11 2
Double Homeobox Protein 12

External Ids:    HGNC: 30791   Entrez Gene: 265842   OMIM: 6114415   UniProtKB: O438123   

Export aliases for DUX1 gene to outside databases

Previous GC identifers: GC00U990584 GC04M191639 GC04M191318 GC10P135340 GC00M000309


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DUX1 Gene:
The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The
DUX gene family, including DUX1, resides within these 3.3-kb repeated elements (Beckers et al., 2001 (PubMed
11245978)). See DUX4 (MIM 606009).(supplied by OMIM, Mar 2008)

GeneCards Summary for DUX1 Gene:
DUX1 (double homeobox 1) is a protein-coding gene. Diseases associated with DUX1 include rhabdomyosarcoma. GO annotations related to this gene include transcription regulatory region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity.

UniProtKB/Swiss-Prot: DUX1_HUMAN, O43812
Function: Probable transcription activator. Binds the P5 DNA element sequence 5'-GATCTGAGTCTAATTGAGAATTACTGTAC-3'




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for DUX1
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DUX1


Genomic Location:
Chromosome:10   

GeneLoc information about chromosome 10        


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
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UniProtKB/Swiss-Prot: DUX1_HUMAN, O43812 (See protein sequence)
Recommended Name: Double homeobox protein 1  
Size: 170 amino acids; 19347 Da
Miscellaneous: DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome
found on the short arms of all acrocentric chromosomes as well as on several other chromosomes

Explore the universe of human proteins at neXtProt for DUX1: NX_O43812

REFSEQ proteins: NP_036278.1  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro protein domains:
 IPR000047 HTH_motif
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry O43812

ProtoNet protein and cluster: O43812

1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

UniProtKB/Swiss-Prot: DUX1_HUMAN, O43812
Domain: Homeobox domain 2 confers nuclear targeting
Similarity: Belongs to the paired homeobox family
Similarity: Contains 2 homeobox DNA-binding domains


DUX1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DUX1_HUMAN, O43812
Function: Probable transcription activator. Binds the P5 DNA element sequence 5'-GATCTGAGTCTAATTGAGAATTACTGTAC-3'

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
     
DUX1 for ontologies           About GeneDecksing


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
DUX1_HUMAN, O43812: Nucleus. Note=Actively transported through the nuclear pore complex (NPC)

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

DUX1 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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Interactions:

    Search GeneGlobe Interaction Network for DUX1

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006366transcription from RNA polymerase II promoter TAS9736770

DUX1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DUX1 gene: 
NM_012146.1  

Unigene Cluster for DUX1:

Double homeobox 1
Hs.274469
Unigene Representative Sequence: AJ001481
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Additional mRNA sequence: AJ001481.1 

1 DOTS entry:

DT.91751843 

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DUX1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGGATTTTGC
DUX1 Expression
About this image

DUX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.274469

UniProtKB/Swiss-Prot: DUX1_HUMAN, O43812
Tissue specificity: Expressed in rhabdomyosarcoma TE671 cells as well as in several other normal and cancer cells

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In Situ
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(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)
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  --

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DUX1 gene
13 SIMAP similar genes for DUX1 using alignment to 1 protein entry:     DUX1_HUMAN:
DUX3    DUX5    DUX4L2    DUX4L3    DUX4L4    DUX4L5
DUX4L6    DUX4L7    DUX4L9    DUX4    DUX2    PROP1
DUXA

DUX1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing DUX1
DNA2.0 Custom Variant and Variant Library Synthesis for DUX1

(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.)
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OMIM gene information: 611441    OMIM disorders: --

1 disease for DUX1:    
About MalaCards
rhabdomyosarcoma


DUX1 for disorders           About GeneDecksing


Export disorders for DUX1 gene to outside databases

(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)
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PubMed articles for DUX1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DUX1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3-kb dispersed repeated elements. (PubMed id 9736770)1, 2, 3 Ding H....Belayew A. (Hum. Mol. Genet. 1998)
  2. Intracellular trafficking and dynamics of double homeodomain proteins. (PubMed id 15709750)1, 2, 9 Oestlund C.... Worman H.J. (Biochemistry 2005)
  3. Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements. (PubMed id 11245978)1, 3 Beckers M.-C.... Belayew A. (Gene 2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 26584 HGNC: 3079 euGenes: HUgn26584 ECgene: DUX1 H-InvDB: DUX1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for DUX1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for DUX1 gene:
Search GeneIP for patents involving DUX1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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