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Q15475

- SIX1_HUMAN

UniProt

Q15475 - SIX1_HUMAN

Protein

Homeobox protein SIX1

Gene

SIX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    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.By similarity4 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi124 – 18360HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. DNA binding Source: UniProtKB
    3. protein binding Source: UniProtKB
    4. sequence-specific DNA binding Source: UniProtKB
    5. sequence-specific DNA binding transcription factor activity Source: UniProtKB
    6. transcription regulatory region DNA binding Source: UniProtKB

    GO - Biological processi

    1. aorta morphogenesis Source: Ensembl
    2. apoptotic process Source: UniProtKB-KW
    3. branching involved in ureteric bud morphogenesis Source: UniProtKB
    4. cochlea morphogenesis Source: Ensembl
    5. embryonic cranial skeleton morphogenesis Source: UniProtKB
    6. embryonic skeletal system morphogenesis Source: UniProtKB
    7. epithelial cell differentiation Source: UniProtKB
    8. facial nerve morphogenesis Source: Ensembl
    9. generation of neurons Source: UniProtKB
    10. inner ear development Source: UniProtKB
    11. inner ear morphogenesis Source: UniProtKB
    12. kidney development Source: UniProtKB
    13. mesonephric tubule formation Source: UniProtKB
    14. metanephric mesenchyme development Source: UniProtKB
    15. middle ear morphogenesis Source: Ensembl
    16. myoblast migration Source: UniProtKB
    17. negative regulation of branching involved in ureteric bud morphogenesis Source: Ensembl
    18. negative regulation of neuron apoptotic process Source: UniProtKB
    19. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    20. neuron fate specification Source: Ensembl
    21. organ induction Source: UniProtKB
    22. otic vesicle development Source: Ensembl
    23. outflow tract morphogenesis Source: Ensembl
    24. pattern specification process Source: UniProtKB
    25. pharyngeal system development Source: Ensembl
    26. positive regulation of branching involved in ureteric bud morphogenesis Source: UniProtKB
    27. positive regulation of mesenchymal cell proliferation involved in ureter development Source: Ensembl
    28. positive regulation of secondary heart field cardioblast proliferation Source: Ensembl
    29. positive regulation of transcription, DNA-templated Source: UniProtKB
    30. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
    31. positive regulation of ureteric bud formation Source: UniProtKB
    32. protein localization to nucleus Source: UniProtKB
    33. regulation of branch elongation involved in ureteric bud branching Source: UniProtKB
    34. regulation of neuron differentiation Source: UniProtKB
    35. regulation of protein localization Source: Ensembl
    36. regulation of synaptic growth at neuromuscular junction Source: Ensembl
    37. regulation of transcription, DNA-templated Source: UniProtKB
    38. sensory perception of sound Source: Ensembl
    39. skeletal muscle tissue development Source: UniProtKB
    40. thymus development Source: UniProtKB
    41. thyroid gland development Source: UniProtKB
    42. transcription, DNA-templated Source: UniProtKB-KW
    43. ureteric bud development Source: UniProtKB
    44. ureter smooth muscle cell differentiation Source: Ensembl

    Keywords - Molecular functioni

    Activator, Developmental protein, Repressor

    Keywords - Biological processi

    Apoptosis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiQ15475.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein SIX1
    Alternative name(s):
    Sine oculis homeobox homolog 1
    Gene namesi
    Name:SIX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:10887. SIX1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleolus Source: HPA
    3. nucleus Source: UniProtKB
    4. transcription factor complex Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti133 – 1331Missing in DFNA23; in addition to deafness the patient had renal anomalies suggesting a branchiootorenal syndrome; crucial for interaction with EYA1, DNA binding and transcription factor activity. 1 Publication
    VAR_031026
    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.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171V → E in BOS3; crucial for interaction with EYA1 and EYA2 and transcription factor activity. 1 Publication
    VAR_064948
    Natural varianti73 – 731H → P in BOS3. 1 Publication
    VAR_064949
    Natural varianti106 – 1061V → G in BOS3; crucial for protein stability, DNA binding and transcription factor activity. 1 Publication
    VAR_064950
    Natural varianti110 – 1101R → Q in BOS3. 1 Publication
    VAR_064951
    Natural varianti110 – 1101R → W in BOS3; crucial for interaction with EYA1, DNA binding and transcription factor activity. 2 Publications
    VAR_031024
    Natural varianti112 – 1121R → C in BOS3; crucial for DNA binding and transcription factor activity. 1 Publication
    VAR_064952
    Natural varianti122 – 1221W → R in BOS3. 1 Publication
    VAR_064953
    Natural varianti129 – 1291Y → C in BOS3; crucial for interaction with EYA1, DNA binding and transcription factor activity. 3 Publications
    VAR_031025
    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.

    Keywords - Diseasei

    Deafness, Disease mutation, Non-syndromic deafness

    Organism-specific databases

    MIMi605192. phenotype.
    608389. phenotype.
    Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    107. BOR syndrome.
    52429. Branchio-otic syndrome.
    PharmGKBiPA35787.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 284284Homeobox protein SIX1PRO_0000049295Add
    BLAST

    Post-translational modificationi

    Phosphorylated during interphase; becomes hyperphosphorylated during mitosis. Hyperphosphorylation impairs binding to promoter elements.1 Publication
    Ubiquitinated by the anaphase promoting complex (APC), leading to its proteasomal degradation.1 Publication

    Keywords - PTMi

    Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ15475.
    PaxDbiQ15475.
    PRIDEiQ15475.

    PTM databases

    PhosphoSiteiQ15475.

    Expressioni

    Tissue specificityi

    Specifically expressed in skeletal muscle.

    Gene expression databases

    ArrayExpressiQ15475.
    BgeeiQ15475.
    CleanExiHS_SIX1.
    GenevestigatoriQ15475.

    Organism-specific databases

    HPAiCAB058690.
    HPA001893.

    Interactioni

    Subunit structurei

    Interacts with DACH1 and EYA3 By similarity. Interacts with EYA1 and EYA2. Interacts with CDC20.By similarity4 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    MDFIQ997502EBI-743675,EBI-724076

    Protein-protein interaction databases

    BioGridi112386. 8 interactions.
    DIPiDIP-34448N.
    IntActiQ15475. 4 interactions.
    MINTiMINT-140054.
    STRINGi9606.ENSP00000247182.

    Structurei

    Secondary structure

    1
    284
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi11 – 2313
    Helixi27 – 3610
    Helixi47 – 6014
    Helixi63 – 7210
    Helixi77 – 793
    Helixi80 – 9920
    Helixi105 – 11410
    Helixi135 – 14511
    Helixi151 – 16111
    Helixi165 – 18420

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4EGCX-ray1.99A1-189[»]
    ProteinModelPortaliQ15475.
    SMRiQ15475. Positions 1-185.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the SIX/Sine oculis homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG289502.
    HOGENOMiHOG000261680.
    HOVERGENiHBG003609.
    InParanoidiQ15475.
    KOiK15614.
    OMAiPRQAPAM.
    OrthoDBiEOG7C5M8Z.
    PhylomeDBiQ15475.
    TreeFamiTF315545.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q15475-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSMLPSFGFT QEQVACVCEV LQQGGNLERL GRFLWSLPAC DHLHKNESVL    50
    KAKAVVAFHR GNFRELYKIL ESHQFSPHNH PKLQQLWLKA HYVEAEKLRG 100
    RPLGAVGKYR VRRKFPLPRT IWDGEETSYC FKEKSRGVLR EWYAHNPYPS 150
    PREKRELAEA TGLTTTQVSN WFKNRRQRDR AAEAKERENT ENNNSSSNKQ 200
    NQLSPLEGGK PLMSSSEEEF SPPQSPDQNS VLLLQGNMGH ARSSNYSLPG 250
    LTASQPSHGL QTHQHQLQDS LLGPLTSSLV DLGS 284
    Length:284
    Mass (Da):32,210
    Last modified:November 1, 1996 - v1
    Checksum:iA4195376CFB9E3EA
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171V → E in BOS3; crucial for interaction with EYA1 and EYA2 and transcription factor activity. 1 Publication
    VAR_064948
    Natural varianti73 – 731H → P in BOS3. 1 Publication
    VAR_064949
    Natural varianti99 – 991R → C.2 Publications
    Corresponds to variant rs17850414 [ dbSNP | Ensembl ].
    VAR_067446
    Natural varianti106 – 1061V → G in BOS3; crucial for protein stability, DNA binding and transcription factor activity. 1 Publication
    VAR_064950
    Natural varianti110 – 1101R → Q in BOS3. 1 Publication
    VAR_064951
    Natural varianti110 – 1101R → W in BOS3; crucial for interaction with EYA1, DNA binding and transcription factor activity. 2 Publications
    VAR_031024
    Natural varianti112 – 1121R → C in BOS3; crucial for DNA binding and transcription factor activity. 1 Publication
    VAR_064952
    Natural varianti122 – 1221W → R in BOS3. 1 Publication
    VAR_064953
    Natural varianti129 – 1291Y → C in BOS3; crucial for interaction with EYA1, DNA binding and transcription factor activity. 3 Publications
    VAR_031025
    Natural varianti133 – 1331Missing in DFNA23; in addition to deafness the patient had renal anomalies suggesting a branchiootorenal syndrome; crucial for interaction with EYA1, DNA binding and transcription factor activity. 1 Publication
    VAR_031026
    Natural varianti249 – 2491P → L in BOR; uncertain pathological significance. 1 Publication
    VAR_064954

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X91868 mRNA. Translation: CAA62974.1.
    AF323497 Genomic DNA. Translation: AAK06772.1.
    BT007083 mRNA. Translation: AAP35746.1.
    BC008874 mRNA. Translation: AAH08874.1.
    CCDSiCCDS9748.1.
    RefSeqiNP_005973.1. NM_005982.3.
    UniGeneiHs.633506.

    Genome annotation databases

    EnsembliENST00000247182; ENSP00000247182; ENSG00000126778.
    GeneIDi6495.
    KEGGihsa:6495.
    UCSCiuc001xfb.4. human.

    Polymorphism databases

    DMDMi2495290.

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X91868 mRNA. Translation: CAA62974.1 .
    AF323497 Genomic DNA. Translation: AAK06772.1 .
    BT007083 mRNA. Translation: AAP35746.1 .
    BC008874 mRNA. Translation: AAH08874.1 .
    CCDSi CCDS9748.1.
    RefSeqi NP_005973.1. NM_005982.3.
    UniGenei Hs.633506.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4EGC X-ray 1.99 A 1-189 [» ]
    ProteinModelPortali Q15475.
    SMRi Q15475. Positions 1-185.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112386. 8 interactions.
    DIPi DIP-34448N.
    IntActi Q15475. 4 interactions.
    MINTi MINT-140054.
    STRINGi 9606.ENSP00000247182.

    PTM databases

    PhosphoSitei Q15475.

    Polymorphism databases

    DMDMi 2495290.

    Proteomic databases

    MaxQBi Q15475.
    PaxDbi Q15475.
    PRIDEi Q15475.

    Protocols and materials databases

    DNASUi 6495.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000247182 ; ENSP00000247182 ; ENSG00000126778 .
    GeneIDi 6495.
    KEGGi hsa:6495.
    UCSCi uc001xfb.4. human.

    Organism-specific databases

    CTDi 6495.
    GeneCardsi GC14M061111.
    GeneReviewsi SIX1.
    HGNCi HGNC:10887. SIX1.
    HPAi CAB058690.
    HPA001893.
    MIMi 601205. gene.
    605192. phenotype.
    608389. phenotype.
    neXtProti NX_Q15475.
    Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    107. BOR syndrome.
    52429. Branchio-otic syndrome.
    PharmGKBi PA35787.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG289502.
    HOGENOMi HOG000261680.
    HOVERGENi HBG003609.
    InParanoidi Q15475.
    KOi K15614.
    OMAi PRQAPAM.
    OrthoDBi EOG7C5M8Z.
    PhylomeDBi Q15475.
    TreeFami TF315545.

    Enzyme and pathway databases

    SignaLinki Q15475.

    Miscellaneous databases

    GeneWikii SIX1.
    GenomeRNAii 6495.
    NextBioi 25247.
    PROi Q15475.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q15475.
    Bgeei Q15475.
    CleanExi HS_SIX1.
    Genevestigatori Q15475.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of the human SIX1 gene and its assignment to chromosome 14."
      Boucher C.A., Carey N., Edwards Y.H., Siciliano M.J., Johnson K.J.
      Genomics 33:140-142(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Muscle.
    2. "Partial genomic sequence of human SIX1."
      Gallardo M.E., Rodriguez de Cordoba S.
      Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT CYS-99.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT CYS-99.
      Tissue: Muscle.
    5. "Cell cycle-regulated phosphorylation of the human SIX1 homeodomain protein."
      Ford H.L., Landesman-Bollag E., Dacwag C.S., Stukenberg P.T., Pardee A.B., Seldin D.C.
      J. Biol. Chem. 275:22245-22254(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, PHOSPHORYLATION.
    6. Cited for: FUNCTION.
    7. "Cell cycle regulation of the human Six1 homeoprotein is mediated by APC(Cdh1)."
      Christensen K.L., Brennan J.D., Aldridge C.S., Ford H.L.
      Oncogene 26:3406-3414(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION, INTERACTION WITH CDC20, SUBCELLULAR LOCATION.
    8. "Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome."
      Patrick A.N., Cabrera J.H., Smith A.L., Chen X.S., Ford H.L., Zhao R.
      Nat. Struct. Mol. Biol. 20:447-453(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.99 ANGSTROMS) OF 1-189 IN COMPLEX WITH EYA2, FUNCTION, SUBUNIT, DNA-BINDING, CHARACTERIZATION OF VARIANT BOS3 GLU-17, CHARACTERIZATION OF VARIANT DFNA23 GLU-133 DEL.
    9. Cited for: VARIANTS BOS3 TRP-110 AND CYS-129, VARIANT DFNA23 GLU-133 DEL, CHARACTERIZATION OF VARIANTS BOS3 TRP-110 AND CYS-129, CHARACTERIZATION OF VARIANT DFNA23 GLU-133 DEL, FUNCTION, INTERACTION WITH EYA1.
    10. "Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses."
      Sanggaard K.M., Rendtorff N.D., Kjaer K.W., Eiberg H., Johnsen T., Gimsing S., Dyrmose J., Nielsen K.O., Lage K., Tranebjaerg L.
      Eur. J. Hum. Genet. 15:1121-1131(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BOS3 ARG-122.
    11. "SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR."
      Kochhar A., Orten D.J., Sorensen J.L., Fischer S.M., Cremers C.W., Kimberling W.J., Smith R.J.
      Hum. Mutat. 29:565-565(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BOS3 GLU-17; PRO-73; GLY-106; GLN-110; TRP-110; CYS-112 AND CYS-129.
    12. "Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations."
      Patrick A.N., Schiemann B.J., Yang K., Zhao R., Ford H.L.
      J. Biol. Chem. 284:20781-20790(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS BOS3 GLU-17; GLY-106; TRP-110 AND CYS-112, CHARACTERIZATION OF VARIANT DFNA23 GLU-133 DEL, FUNCTION, DNA-BINDING, SUBCELLULAR LOCATION, INTERACTION WITH EYA1 AND EYA2.
    13. "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."
      Krug P., Moriniere V., Marlin S., Koubi V., Gabriel H.D., Colin E., Bonneau D., Salomon R., Antignac C., Heidet L.
      Hum. Mutat. 32:183-190(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BOS3 CYS-129, VARIANT BOR LEU-249.

    Entry informationi

    Entry nameiSIX1_HUMAN
    AccessioniPrimary (citable) accession number: Q15475
    Secondary accession number(s): Q53Y16, Q96H64
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 131 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3