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SIX1 Gene

protein-coding   GIFtS: 66
GCID: GC14M061113

SIX Homeobox 1

(Previous names: sine oculis homeobox (Drosophila) homolog 1, sine oculis...)
(Previous symbol: DFNA23)
  See SIX1-related diseases
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
SIX Homeobox 11 2     Sine Oculis Homeobox (Drosophila) Homolog 11
DFNA231 2 5     Sine Oculis Homeobox Homolog 1 (Drosophila)1
Sine Oculis Homeobox Homolog 12 3     TIP392
BOS32 5     Homeobox Protein SIX12
Deafness, Autosomal Dominant 231     

External Ids:    HGNC: 108871   Entrez Gene: 64952   Ensembl: ENSG000001267787   OMIM: 6012055   UniProtKB: Q154753   

Export aliases for SIX1 gene to outside databases

Previous GC identifers: GC14M058438 GC14M054906 GC14M059102 GC14M060182 GC14M061111 GC14M041274


(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 SIX1 Gene:
The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene
product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb
development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic
syndrome type 3 (BOS3). (provided by RefSeq, Jul 2008)

GeneCards Summary for SIX1 Gene:
SIX1 (SIX homeobox 1) is a protein-coding gene. Diseases associated with SIX1 include six1-related branchiootorenal spectrum disorders, and dfna23 nonsyndromic hearing loss and deafness. GO annotations related to this gene include chromatin binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SIX4.

UniProtKB/Swiss-Prot: SIX1_HUMAN, Q15475
Function: Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic
development. Plays an important role in the development of several organs, including kidney, muscle and inner
ear. Depending on context, functions as transcriptional repressor or activator. Lacks an activation domain, and
requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1
and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter. Regulates the
expression of numerous genes, including MYC, CCND1 and EZR. Acts as activator of the IGFBP5 promoter, probably
coactivated by EYA2. Repression of precursor cell proliferation in myoblasts is switched to activation through
recruitment of EYA3 to the SIX1-DACH1 complex. During myogenesis, seems to act together with EYA2 and DACH2 (By
similarity). Regulates the expression of CCNA1

Gene Wiki entry for SIX1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the SIX1 gene promoter:
         AREB6   PPAR-alpha   IRF-2   FOXJ2 (long isoform)   FOXJ2   POU3F2 (N-Oct-5b)   Nkx2-5   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSIX1 promoter sequence
   Search Chromatin IP Primers for SIX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SIX1


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

Entrez Gene cytogenetic band: 14q23.1   Ensembl cytogenetic band:  14q23.1   HGNC cytogenetic band: 14q23.1

SIX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIX1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M061113:  view genomic region     (about GC identifiers)

Start:
61,110,133 bp from pter      End:
61,124,977 bp from pter
Size:
14,845 bases      Orientation:
minus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SIX1_HUMAN, Q15475 (See protein sequence)
Recommended Name: Homeobox protein SIX1  
Size: 284 amino acids; 32210 Da
Subunit: Interacts with DACH1 and EYA3 (By similarity). Interacts with EYA1 and EYA2. Interacts with CDC20
1 PDB 3D structure from and Proteopedia for SIX1:
4EGC (3D)    
Secondary accessions: Q53Y16 Q96H64

Explore the universe of human proteins at neXtProt for SIX1: NX_Q15475

Explore proteomics data for SIX1 at MOPED

Post-translational modifications: 

  • Phosphorylated during interphase; becomes hyperphosphorylated during mitosis. Hyperphosphorylation impairs binding
    to promoter elements1
  • Ubiquitinated by the anaphase promoting complex (APC), leading to its proteasomal degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SIX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005973.1  
    ENSEMBL proteins: 
     ENSP00000247182   ENSP00000450952   ENSP00000450739   ENSP00000452700  

    SIX1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for SIX1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SIX1
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    Novus Biologicals SIX1 Proteins
    Novus Biologicals SIX1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for SIX1
    Cloud-Clone Corp. Proteins for SIX1

     
    Search eBioscience for Proteins for SIX1 

    SIX1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SIX1
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    LSBio Antibodies in human, mouse, rat for SIX1

    SIX1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SIX1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SIX1
    Cloud-Clone Corp. CLIAs for SIX1
    Search eBioscience for ELISAs for SIX1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SIX: Homeoboxes / SINE class

    3 InterPro protein domains:
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q15475

    ProtoNet protein and cluster: Q15475

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

    UniProtKB/Swiss-Prot: SIX1_HUMAN, Q15475
    Similarity: Belongs to the SIX/Sine oculis homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with SIX1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SIX1_HUMAN, Q15475
    Function: Transcription factor that is involved in the regulation of cell proliferation, apoptosis and embryonic
    development. Plays an important role in the development of several organs, including kidney, muscle and inner
    ear. Depending on context, functions as transcriptional repressor or activator. Lacks an activation domain, and
    requires interaction with EYA family members for transcription activation. Mediates nuclear translocation of EYA1
    and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the MYOG promoter. Regulates the
    expression of numerous genes, including MYC, CCND1 and EZR. Acts as activator of the IGFBP5 promoter, probably
    coactivated by EYA2. Repression of precursor cell proliferation in myoblasts is switched to activation through
    recruitment of EYA3 to the SIX1-DACH1 complex. During myogenesis, seems to act together with EYA2 and DACH2 (By
    similarity). Regulates the expression of CCNA1

         Genatlas biochemistry entry for SIX1:
    Drosophila sine oculis homolog SIX1 homeo box encoding gene,expressed during development in limb tendons,also
    expressed in skeletal and smooth muscle

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IDA19497856
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity ISS--
    GO:0005515protein binding IPI15141091
    GO:0043565sequence-specific DNA binding IDA15141091
         
    Find genes that share ontologies with SIX1           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 9 alleles(MGI details for Six1) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     immune system  limbs/digits/tail  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with SIX1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SIX1: Six1tm1Kwk Six1tm2Kwk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SIX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SIX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SIX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SIX1

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  GKVTCADRTTWC 

    miRNA
    Products:
        
    miRTarBase miRNAs that target SIX1:
    hsa-mir-324-3p (MIRT042949), hsa-mir-26b-5p (MIRT029669), hsa-mir-193b-3p (MIRT016461), hsa-mir-185-5p (MIRT005550)

    Block miRNA regulation of human, mouse, rat SIX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SIX1 (see all 37):
    hsa-miR-429 hsa-miR-200a hsa-miR-30d hsa-miR-138-2* hsa-miR-570 hsa-miR-141 hsa-miR-30a hsa-miR-208a
    SwitchGear 3'UTR luciferase reporter plasmidSIX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SIX1
    Predesigned siRNA for gene silencing in human, mouse, rat SIX1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SIX1

    Clone
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    OriGene clones in human, mouse for SIX1 (see all 6)
    OriGene ORF clones in mouse, rat for SIX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SIX1 (NM_005982)
    Sino Biological Human cDNA Clone for SIX1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX1
    Addgene plasmids for SIX1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SIX1
    ESI BIO PureStem Progenitors for SIX1: 
    PureStem E15, Meso-prx/latp Progenitor, PureStem SK11, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX1


    (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
    SIX1_HUMAN, Q15475: Nucleus. Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex ISS--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with SIX1           About GenesLikeMe


    (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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    SuperPaths for SIX1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer


    Find genes that share SuperPaths with SIX1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for SIX1):
        Transcriptional misregulation in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SIX1: 
              WNT Signaling Targets in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SIX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SIX1 (Q154751, 2, 3 ENSP000002471824) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158342, 3, ENSP000003116954MINT-67082 I2D: score=5 STRING: ENSP00000311695
    MDFIQ997501, 2, 3, ENSP000002303214EBI-743675,EBI-724076 MINT-66374 I2D: score=6 STRING: ENSP00000230321
    DACH1Q9UI363, ENSP000003527124I2D: score=3 STRING: ENSP00000352712
    EYA1Q995023, ENSP000003426264I2D: score=3 STRING: ENSP00000342626
    AESQ081173, ENSP000002215614I2D: score=1 STRING: ENSP00000221561
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 48):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001657ureteric bud development ISS--
    GO:0001658branching involved in ureteric bud morphogenesis ISS--
    GO:0001759organ induction ISS--
    GO:0001822kidney development ISS--

    Find genes that share ontologies with SIX1           About GenesLikeMe



    (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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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SIX1



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SIX1 gene: 
    NM_005982.3  

    Unigene Cluster for SIX1:

    SIX homeobox 1
    Hs.633506  [show with all ESTs]
    Unigene Representative Sequence: NM_005982
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000247182(uc001xfb.4) ENST00000555955 ENST00000553535 ENST00000554986
    ENST00000555627
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SIX1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SIX1 (see all 37):
    hsa-miR-429 hsa-miR-200a hsa-miR-30d hsa-miR-138-2* hsa-miR-570 hsa-miR-141 hsa-miR-30a hsa-miR-208a
    SwitchGear 3'UTR luciferase reporter plasmidSIX1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SIX1
    Clone
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SIX1
      QuantiTect SYBR Green Assays in human, mouse, rat SIX1
      QuantiFast Probe-based Assays in human, mouse, rat SIX1

    Additional mRNA sequence: 

    AK093780.1 BC008874.2 BT007083.1 X91868.1 

    5 DOTS entries:

    DT.110833  DT.210942  DT.92421992  DT.206169  DT.99950944 

    Selected AceView cDNA sequences (see all 130):

    BE765452 BE670478 BI495857 AW770317 AW341127 AI298421 BF111239 BE220876 
    BE350547 BM975666 BE791327 AI375023 BE671377 AI860806 BQ182990 AA988491 
    BF436137 BE765761 BU607471 AW016919 AI701028 BF433117 AW409771 BU675926 

    GeneLoc Exon Structure


    (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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    SIX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SIX1 Expression
    About this image


    SIX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 46 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Somite (Muscoskeletal System)    fully expand to see all 37 entries
             Myoblasts Cervical Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Mononuclear Myocytes Hindlimb Dorsal Muscle
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 3 entries
             Head Mesoderm
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 4 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
    SIX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SIX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.633506

    UniProtKB/Swiss-Prot: SIX1_HUMAN, Q15475
    Tissue specificity: Specifically expressed in skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SIX1: 
              WNT Signaling Targets in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for SIX1
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    QuantiFast Probe-based Assays in human, mouse, rat SIX1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIX1

    (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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    This gene was present in the common ancestor of animals.

    Orthologs for SIX1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Six11 , 5 sine oculis-related homeobox 1 homolog (Drosophila)5
    sine oculis-related homeobox 11
    93.31(n)1
    99.3(a)1
      12 (30.34 cM)5
    204711  NM_009189.31  NP_033215.21 
     730400155 
    chicken
    (Gallus gallus)
    Aves SIX11 SIX homeobox 1 85.22(n)
    92.55(a)
      693262  NM_001044685.1  NP_001038150.1 
    lizard
    (Anolis carolinensis)
    Reptilia SIX16
    SIX homeobox 1
    87(a)
    1 ↔ 1
    GL343261.1(826113-841217)
    African clawed frog
    (Xenopus laevis)
    Amphibia Six12 homeobox protein SIX1 80.11(n)    BC045122.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.276812 Transcribed sequence with moderate similarity to protein more 80.5(n)    CK147432.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta so1 , 3 circadian rhythm transcription factor3
    sine oculis1
    87(a)
    (best of 2)3
    76.32(n)1
    87.43(a)1
      2 43C13
    356621  NM_057385.51  NP_476733.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-333   -- 61(a)
    (best of 4)
      V(5322702-5324303)   --


    ENSEMBL Gene Tree for SIX1 (if available)
    TreeFam Gene Tree for SIX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SIX1 gene
    SIX42  SIX52  SIX22  SIX32  SIX62  
    6 SIMAP similar genes for SIX1 using alignment to 3 protein entries:     SIX1_HUMAN (see all proteins):
    SIX6    AREC3    SIX2    SIX3    SIX4    SIX5

    Find genes that share paralogs with SIX1           About GenesLikeMe



    (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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    Selected SNPs for SIX1 (see all 170)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0649514
    Branchiootic syndrome 3 (BOS3)4--see VAR_0649512 R Q mis40--------
    VAR_0310244
    Branchiootic syndrome 3 (BOS3)4--see VAR_0310242 R W mis40--------
    VAR_0649494
    Branchiootic syndrome 3 (BOS3)4--see VAR_0649492 H P mis40--------
    VAR_0649524
    Branchiootic syndrome 3 (BOS3)4--see VAR_0649522 R C mis40--------
    VAR_0649484
    Branchiootic syndrome 3 (BOS3)4--see VAR_0649482 V E mis40--------
    VAR_0310254
    Branchiootic syndrome 3 (BOS3)4--see VAR_0310252 Y C mis40--------
    VAR_0649504
    Branchiootic syndrome 3 (BOS3)4--see VAR_0649502 V G mis40--------
    VAR_0649534
    Branchiootic syndrome 3 (BOS3)4--see VAR_0649532 W R mis40--------
    rs1048944781,2
    Cpathogenic142100093(-) CAGCTA/GCTGCT 2 Y C mis10--------
    rs803564591,2
    Cpathogenic142100151(-) AATATC/TGGGTG 2 R W mis10--------

    HapMap Linkage Disequilibrium report for SIX1 (61110133 - 61124977 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SIX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1295CNV Loss18451855
    nsv819505CNV Gain19587683

    Human Gene Mutation Database (HGMD): SIX1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SIX1
    DNA2.0 Custom Variant and Variant Library Synthesis for SIX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601205   
    OMIM disorders: 608389  605192  
    UniProtKB/Swiss-Prot: SIX1_HUMAN, Q15475
  • Deafness, autosomal dominant, 23 (DFNA23) [MIM:605192]: A form of non-syndromic deafness characterized by
    prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Branchiootic syndrome 3 (BOS3) [MIM:608389]: A syndrome characterized by usually bilateral branchial
    cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects
    of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear
    canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic
    anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are
    absent in branchiootic syndrome patients. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Note=Defects in SIX1 could be a cause of branchiootorenal syndrome (BOR). BOR is an autosomal dominant
    disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct
    stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated
    defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss
    may be due to mondini type cochlear defect and stapes fixation. Penetrance of BOR syndrome is high, although
    expressivity can be extremely variable

  • 12 diseases for SIX1:    
    About MalaCards
    six1-related branchiootorenal spectrum disorders    dfna23 nonsyndromic hearing loss and deafness    deafness, autosomal dominant 23    mitral valve insufficiency
    brachiootic syndrome 3    branchiootic syndrome    branchiootorenal spectrum disorders    lacrimal duct obstruction
    branchiootorenal syndrome    branchiootorenal syndrome 1, with or without cataracts    malignant peripheral nerve sheath tumor    deafness, autosomal dominant 4b

    3 diseases from the University of Copenhagen DISEASES database for SIX1:
    Branchiootorenal syndrome     Lacrimal duct obstruction     Renal agenesis

    Find genes that share disorders with SIX1           About GenesLikeMe

    10 Novoseek inferred disease relationships for SIX1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bor syndrome 97.1 18 16491411 (3), 19389353 (2), 17637804 (2), 17238186 (2) (see all 11)
    renal anomaly 87.9 1 18177466 (1)
    urinary tract anomaly 73.2 2 20110314 (1), 16971658 (1)
    rhabdomyosarcoma 35.1 1 15805264 (1)
    metastasis 25.4 10 19726885 (3), 20074369 (2), 17409410 (1), 19331807 (1) (see all 6)
    renal failure chronic 5.46 1 16971658 (1)
    breast cancer 0 13 15805264 (4), 19726885 (4), 20074369 (2), 19726883 (1)
    tumors 0 16 15805264 (4), 17409410 (2), 19726885 (2), 19726883 (2)
    carcinoma 0 2 17409410 (2), 20074369 (1), 19726883 (1)
    cancer 0 5 19726885 (2), 17409410 (1), 20074369 (1), 18381426 (1)

    GeneTests: SIX1
    GeneReviews: SIX1
    Human Genome Epidemiology (HuGE) Navigator: SIX1 (2 documents)

    Export disorders for SIX1 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 SIX1 gene, integrated from 10 sources (see all 88):
    (articles sorted by number of sources associating them with SIX1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. (PubMed id 15141091)1, 2, 3, 9 Ruf R.G.... Hildebrandt F. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    2. Cloning of the human SIX1 gene and its assignment to chromosome 14. (PubMed id 8617500)1, 2, 3 Boucher C.A.... Johnson K.J. (Genomics 1996)
    3. Biochemical and functional characterization of six SIX1 Branchio-oto- renal syndrome mutations. (PubMed id 19497856)1, 2, 9 Patrick A.N.... Ford H.L. (J. Biol. Chem. 2009)
    4. SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. (PubMed id 18330911)1, 2, 9 Kochhar A.... Smith R.J. (Hum. Mutat. 2008)
    5. Cell cycle regulation of the human Six1 homeoprotein is mediated by APC(Cdh1). (PubMed id 17130831)1, 2, 9 Christensen K.L.... Ford H.L. (Oncogene 2007)
    6. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. (PubMed id 17637804)1, 2, 9 Sanggaard K.M.... Tranebjaerg L. (Eur. J. Hum. Genet. 2007)
    7. Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome. (PubMed id 23435380)1, 2 Patrick A.N.... Zhao R. (Nat. Struct. Mol. Biol. 2013)
    8. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. (PubMed id 21280147)1, 2 Krug P.... Heidet L. (Hum. Mutat. 2011)
    9. The Six1 homeoprotein stimulates tumorigenesis by reactivation of cyclin A1. (PubMed id 15123840)1, 2 Coletta R.D.... Ford H.L. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 6495 HGNC: 10887 AceView: SIX1 Ensembl:ENSG00000126778 euGenes: HUgn6495
    ECgene: SIX1 Kegg: 6495 H-InvDB: SIX1

    (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 SIX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SIX1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SIX1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SIX1 gene:
    Search GeneIP for patents involving SIX1

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



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