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DUX4L5 Gene

protein-coding   GIFtS: 26

GC04P190999
double homeobox 4 like 5
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases & Descriptions
double homeobox 4 like 51 2
OTTHUMP000002200402
double homeobox, 4-like2
DUX103
Double homeobox protein 4/103
Double homeobox protein 103

External Ids:    HGNC: 386891   Entrez Gene: 6535452   Ensembl: ENSG000002274767   UniProtKB: Q9UBX23   

Export aliases for DUX4L5 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2
Function: May be involved in transcriptional regulation


(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 DUX4L5
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for DUX4L5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


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

Entrez Gene cytogenetic band: 4q35.2   Ensembl cytogenetic band:  4q35.2   HGNC cytogenetic band: 4q35.2

DUX4L5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUX4L5 gene location

GeneLoc gene densities for chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P190999:  view genomic region     (about GC identifiers)

Start:
190,998,673 bp from pter
End:
191,000,289 bp from pter
Size:
1,617 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, 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)
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UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2 (See protein sequence)
Recommended Name: Double homeobox protein 4  
Size: 424 amino acids; 44940 Da
Subunit: May exist as a monomer or a dimer
Subcellular location: Nucleus. Note=Actively transported through the nuclear pore complex (NPC)
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 DUX4L5: NX_Q9UBX2 

REFSEQ proteins: NP_001120861.2  

ENSEMBL proteins: 
ENSP00000405630 ENSP00000425637 


Human Recombinant Proteins 
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1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus ----
About this table

DUX4L5 for ontologies           About GeneDecksing



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

DUX4L5 for domains           About GeneDecksing

4 InterPro domains/families:
 IPR000047 HTH_lambrepressr
 IPR001356 Homeobox
 IPR009057 Homeodomain-like
 IPR012287 Homeodomain-rel

Graphical View of Domain Structure for InterPro Entry Q9UBX2

ProtoNet protein and cluster: Q9UBX2

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

UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2
Domain: Both homebox domains confer nuclear targeting
Similarity: Belongs to the paired homeobox family
Similarity: Contains 2 homeobox DNA-binding domains


(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: DUX4_HUMAN, Q9UBX2
Function: May be involved in transcriptional regulation

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
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Sigma-Aldrich siRNA for DUX4L5
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OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): DUX4L5
OriGene shRNA RFP (see all 2): DUX4L5
OriGene basic RS shRNA (see all 2): DUX4L5
OriGene siRNA (see all 2): DUX4L5
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of DUX4L5 
miRNA:Browse microRNA Mimics at Sigma-Aldrich
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of DUX4L5 
Search SABiosciences for Assays for microRNAs that regulate DUX4L5

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
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OriGene Myc/DDK tagged cDNA clones in CMV expression vector: DUX4L5
OriGene untagged cDNA clones in CMV expression vector: DUX4L5
Browse 3'-UTR reporter clones for miRNA target validation 
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Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for DUX4L5 

2 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003700 sequence-specific DNA binding transcription factor activity ----
GO:0043565 sequence-specific DNA binding ----
About this table

DUX4L5 for ontologies           About GeneDecksing


(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 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

    SABiosciences Custom Pathway-Focused PCR Arrays for DUX4L5 

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DUX4L5

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

GO IDQualified GO termEvidencePubMed IDs
GO:0006355 regulation of transcription, DNA-dependent ----
About this table

DUX4L5 for ontologies           About GeneDecksing



(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 Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DUX4L5


(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

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA for DUX4L5
Browse shRNA at Sigma-Aldrich
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): DUX4L5
OriGene shRNA RFP (see all 2): DUX4L5
OriGene basic RS shRNA (see all 2): DUX4L5
OriGene siRNA (see all 2): DUX4L5
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of DUX4L5 
miRNA: Browse microRNA Mimics at Sigma-Aldrich
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of DUX4L5 
Search SABiosciences for Assays for microRNAs that regulate DUX4L5
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene Myc/DDK tagged cDNA clones in CMV expression vector: DUX4L5
OriGene untagged cDNA clones in CMV expression vector: DUX4L5
Browse 3'-UTR reporter clones for miRNA target validation 
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Primers: OriGene genome-wide validated SYBR primer pairs: DUX4L5
Browse OriGene validated miRNA SYBR primer pairs 
Search SABiosciences RT2 qPCR Primer Assays for DUX4L5

REFSEQ mRNAs for DUX4L5 gene: 

NM_001127389.1  

Unigene Cluster for DUX4L5:

Double homeobox 4 like 5
Hs.714687
Unigene Representative Sequence: NM_001127389


GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000451074(uc011clj.1) ENST00000507610

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , 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

DUX4L5 expression in normal and diseased human tissues

Data from GNF BioGPS
    About these images

DUX4L5 gene expression
DUX4L5 gene electronic northern expression
DUX4L5 gene sage expression
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.714687

UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2
Tissue specificity: Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it
may be toxic to cells

Primers: OriGene genome-wide validated SYBR primer pairs: DUX4L5
Browse OriGene validated miRNA SYBR primer pairs 
Search SABiosciences RT2 qPCR Primer Assays for DUX4L5
    SABiosciences Custom PCR Arrays for DUX4L5 


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for DUX4L5 gene from 2 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
DUX41   -- double homeobox, 4 53.26(n)
45.31(a)
491532  XM_548653.2  XP_548653.2 
chimpanzee
(Pan troglodytes)
DUX41   -- double homeobox, 4 81.63(n)
71.36(a)
470852  XM_001142325.1  XP_001142325.1 
About this table        Species with no ortholog for DUX4L5

ENSEMBL Gene Tree for DUX4L5 (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for DUX4L5 gene
LOC728410  DUX41 2  LOC653544  LOC653548  LOC653543  LOC440017  LOC440013  LOC399839  
LOC728022  LOC441056  LOC401650  LOC440014  LOC653541  ENSG000002296172  ENSG000002310892  ENSG000002329232  
DUX4L32  ENSG000002336982  PROP12  DUXA2  ENSG000002268662  ENSG000002332942  DUX4L72  DUX4L62  
MIXL12  ENSG000002337942  ENSG000002157542  DUX4L42  ENSG000002143252  ENSG000002306422  ENSG000002259582  ENSG000002345502  
ENSG000002245582  ENSG000002307762  DUX4L22  ENSG000002176422  ENSG000002362072  ENSG000002333612  ENSG000002287102  ENSG000002303802  

DUX4L5 for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
Search QIAGEN SeqTarget long-range PCR primers for resequencing for DUX4L5 

(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

DUX4L5 for disorders           About GeneDecksing

UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2
  • Defects in DUX4 may be the cause of facioscapulohumeral muscular dystrophy (FSHD) [MIM:158900]. FSHD is
  • characterized by weakness of the muscles of the face, upper-arm and shoulder girdle. Severity is highly variable.
    Weakness is slowly progressive and about 20% of affected individuals eventually require a wheelchair. Approximately
    70-90% of individuals have inherited the disease-causing deletion from a parent, and approximately 10-30% of affected
    individuals have FSHD as the result of a de novo deletion. Offsprings of an affected individual have a 50% chance of
    inheriting the deletion


    Export disorders and mutations for DUX4L5 gene to outside databases


    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

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

    5 PubMed articles for DUX4L5 gene integrated from 7 sources:
    (articles sorted by number of sources associating them with DUX4L5)
    1. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. (PubMed id 10433963)1, 2 Gabrieels J.... Belayew A. (1999)
    2. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. (PubMed id 17668377)1 Clapp J....Hewitt J.E. (2007)
    3. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. (PubMed id 17588759)1 Kowaljow V....Rosa A.L. (2007)
    4. Intracellular trafficking and dynamics of double homeodomain proteins. (PubMed id 15709750)2 Oestlund C.... Worman H.J. (2005)
    5. Characterization of a tandemly repeated 3.3kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. (PubMed id 7739628)1 Lee J.... Arahata K. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      Query String
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      (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)
    About This Section
    Entrez Gene: 653545 HGNC: 38689 Ensembl:ENSG00000227476 euGenes: HUgn653545 ECgene: DUX4L5
    H-InvDB: DUX4L5

    (According to HUGE)
    About This Section
      --

    (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
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for DUX4L5 gene:
    Search GeneIP for patents involving DUX4L5

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



    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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