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

SIX1 Gene

protein-coding   GIFtS: 66
GCID: GC14M061111

SIX Homeobox 1

(Previous names: sine oculis homeobox (Drosophila) homolog 1, sine oculis...)
(Previous symbol: DFNA23)
  See 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)
About This Section

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 GC14M041274


(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 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 branchiootorenal spectrum disorders, and six1-related branchiootorenal spectrum disorders. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SIX1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC14M061111:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus. Cytoplasm
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:

  • UniProtKB: Phosphorylated during interphase; becomes hyperphosphorylated during mitosis. Hyperphosphorylation impairs binding
    to promoter elements
  • UniProtKB: Ubiquitinated by the anaphase promoting complex (APC), leading to its proteasomal degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15475

  • SIX1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SIX1 Protein Expression
    REFSEQ proteins: NP_005973.1  
    ENSEMBL proteins: 
     ENSP00000247182   ENSP00000450952   ENSP00000450739   ENSP00000452700  

    Human Recombinant Protein Products for SIX1: 
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    OriGene Protein Over-expression Lysate 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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    SIX1 for ontologies           About GeneDecksing



    SIX1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SIX1 

    Assay Products for SIX1: 
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    Cloud-Clone Corp. ELISAs for SIX1 
    Cloud-Clone Corp. CLIAs for SIX1


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

    3 InterPro protein domains:
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     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


    SIX1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (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
         
    SIX1 for ontologies           About GeneDecksing


    Phenotypes:
         15/20 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  hearing/vestibular/ear  hematopoietic system 
     immune system  limbs/digits/tail  mortality/aging  muscle  nervous system 

    SIX1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SIX1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

    miRNA
    Products:
        
    miRTarBase miRNAs that target SIX1:
    hsa-mir-185 (MIRT005550)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIX1
    8/37 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SIX1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX1

    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SIX1 (see all 7)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of SIX1 
                         Customized lentivirus expression plasmids for stable overexpression of SIX1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SIX1
    LifeMap BioReagents: cell lines associated with 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


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SIX1 About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




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


    SIX1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SIX1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/19 Interacting proteins for SIX1 (Q154751, 2, 3 ENSP000002471824) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    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): 5/48 biological process terms (GO ID links to tree view) (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--

    SIX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 SIX1

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SIX1
    8/37 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SIX1
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SIX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SIX1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SIX1
      QIAGEN 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 

    24/130 AceView cDNA sequences (see all 130):

    BM975666 AI298421 BE670478 BU607471 AW770317 AW341127 BI495857 AW016919 
    BQ182990 BF111239 BF436137 BF433117 AI701028 AI860806 BE765452 AI375023 
    AW409771 BE350547 BE791327 BE671377 BE765761 BE220876 AA988491 AA178885 

    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™, 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

    SIX1 expression in normal human tissues (normalized intensities)      SIX1 embryonic expression: see
    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 
     5/29 selected tissues (see all 29) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 51 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
             skeletal muscle ; myocytes   
     
     Somite (Muscoskeletal System)    fully expand to see all 37 entries
             Myoblasts Thoracic Primary Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 10 entries
             Mononuclear Myocytes Hindlimb Dorsal Muscle
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 4 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Paraxial Mesoderm Cells Head Mesenchyme
             Human Vertebral Mesenchymal Stem Cells (HVMSC)   

    See SIX1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SIX1

    SOURCE GeneReport for Unigene cluster: Hs.633506

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including SIX1: 
              WNT Signaling Targets in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SIX1 gene from 7/16 species (see all 16)    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 
     730369295 
    chicken
    (Gallus gallus)
    Aves SIX11 SIX homeobox 1 85.11(n)
    92.55(a)
      693262  NM_001044685.1  NP_001038150.1 
    lizard
    (Anolis carolinensis)
    Reptilia SIX16
    --
    Uncharacterized protein
    87(a)
    74(a)
    1 ↔ 1
    possible ortholog
    GL343261.1(826113-841217)
    GL343568.1(43859-55241)
    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 so3 circadian rhythm transcription factor 87(a)
    (best of 2)
      2 43C1   --
    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)
    About This Section
    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

    SIX1 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) 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

    10/170 SNPs in SIX1 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/27 diseases for SIX1 (see all 27):    About MalaCards
    branchiootorenal spectrum disorders    six1-related branchiootorenal spectrum disorders    brachiootic syndrome 3    deafness, autosomal dominant 23
    lacrimal duct obstruction    dfna23 nonsyndromic hearing loss and deafness    branchiootic syndrome    branchiootorenal syndrome
    enlarged vestibular aqueduct    renal agenesis    nonsyndromic hearing loss and deafness, autosomal dominant    malignant peripheral nerve sheath tumor
    pharyngitis    myopia    wilms tumor    open-angle glaucoma
    rhabdomyosarcoma    glaucoma    cervical cancer    osteosarcoma

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

    SIX1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SIX1 gene, integrated from 9 sources (see all 87):
    (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. (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. (1996)
    3. Biochemical and functional characterization of six SI X1 Branchio-oto-renal syndrome mutations. (PubMed id 19497856)1, 2, 9 Patrick A.N....Ford H.L. (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. (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. (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. (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. (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. (2011)
    9. The Six1 homeoprotein stimulates tumorigenesis by reactivation of cyclin A1. (PubMed id 15123840)1, 2 Coletta R.D....Ford H.L. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6495 HGNC: 10887 AceView: SIX1 Ensembl:ENSG00000126778 euGenes: HUgn6495
    ECgene: SIX1 Kegg: 6495 H-InvDB: SIX1

    (According to HUGE)
    About This Section
      --

    (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 SIX1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SIX1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SIX1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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