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O95475

- SIX6_HUMAN

UniProt

O95475 - SIX6_HUMAN

Protein

Homeobox protein SIX6

Gene

SIX6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 2 (03 Oct 2006)
      Previous versions | rss
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    Functioni

    May be involved in eye development.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi128 – 18760HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: InterPro
    2. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. organ morphogenesis Source: ProtInc
    2. visual perception Source: ProtInc

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein SIX6
    Alternative name(s):
    Homeodomain protein OPTX2
    Optic homeobox 2
    Sine oculis homeobox homolog 6
    Gene namesi
    Name:SIX6
    Synonyms:OPTX2, SIX9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:10892. SIX6.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Microphthalmia, isolated, with cataract, 2 (MCOPCT2) [MIM:212550]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti165 – 1651T → A in MCOPCT2. 1 Publication
    VAR_026241

    Keywords - Diseasei

    Cataract, Disease mutation, Microphthalmia

    Organism-specific databases

    MIMi212550. phenotype.
    Orphaneti264200. 14q22q23 microdeletion syndrome.
    2543. Microphthalmia - cataract.
    PharmGKBiPA35792.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 246246Homeobox protein SIX6PRO_0000049307Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei212 – 2121Phosphothreonine1 Publication
    Modified residuei221 – 2211Phosphoserine1 Publication
    Modified residuei225 – 2251Phosphoserine1 Publication
    Modified residuei227 – 2271Phosphoserine1 Publication
    Modified residuei228 – 2281Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO95475.
    PaxDbiO95475.
    PRIDEiO95475.

    PTM databases

    PhosphoSiteiO95475.

    Expressioni

    Tissue specificityi

    Expressed in the developing and adult retina. Also expressed in the hypothalamic and the pituitary regions.

    Gene expression databases

    ArrayExpressiO95475.
    BgeeiO95475.
    CleanExiHS_SIX6.
    GenevestigatoriO95475.

    Organism-specific databases

    HPAiHPA001403.

    Interactioni

    Subunit structurei

    Interacts with TLE4 and AES.By similarity

    Protein-protein interaction databases

    BioGridi111034. 4 interactions.
    STRINGi9606.ENSP00000328596.

    Structurei

    3D structure databases

    ProteinModelPortaliO95475.
    SMRiO95475. Positions 1-189.
    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

    eggNOGiNOG244436.
    HOGENOMiHOG000261680.
    HOVERGENiHBG003609.
    InParanoidiO95475.
    OMAiTASMFQL.
    OrthoDBiEOG7C5M8Z.
    PhylomeDBiO95475.
    TreeFamiTF315545.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O95475-1 [UniParc]FASTAAdd to Basket

    « Hide

    MFQLPILNFS PQQVAGVCET LEESGDVERL GRFLWSLPVA PAACEALNKN    50
    ESVLRARAIV AFHGGNYREL YHILENHKFT KESHAKLQAL WLEAHYQEAE 100
    KLRGRPLGPV DKYRVRKKFP LPRTIWDGEQ KTHCFKERTR HLLREWYLQD 150
    PYPNPSKKRE LAQATGLTPT QVGNWFKNRR QRDRAAAAKN RLQQQVLSQG 200
    SGRALRAEGD GTPEVLGVAT SPAASLSSKA ATSAISITSS DSECDI 246
    Length:246
    Mass (Da):27,687
    Last modified:October 3, 2006 - v2
    Checksum:i5378438C9DE8C597
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti141 – 1411H → N.5 Publications
    Corresponds to variant rs33912345 [ dbSNP | Ensembl ].
    VAR_031631
    Natural varianti165 – 1651T → A in MCOPCT2. 1 Publication
    VAR_026241

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF031648 Genomic DNA. Translation: AAF04402.1.
    AJ011785 mRNA. Translation: CAA09773.1.
    AF141651 Genomic DNA. Translation: AAD49844.1.
    BC069413 mRNA. Translation: AAH69413.2.
    AB041399 Genomic DNA. Translation: BAA94484.1.
    CCDSiCCDS9747.1.
    RefSeqiNP_031400.2. NM_007374.2.
    UniGeneiHs.194756.

    Genome annotation databases

    EnsembliENST00000327720; ENSP00000328596; ENSG00000184302.
    GeneIDi4990.
    KEGGihsa:4990.
    UCSCiuc001xfa.4. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF031648 Genomic DNA. Translation: AAF04402.1 .
    AJ011785 mRNA. Translation: CAA09773.1 .
    AF141651 Genomic DNA. Translation: AAD49844.1 .
    BC069413 mRNA. Translation: AAH69413.2 .
    AB041399 Genomic DNA. Translation: BAA94484.1 .
    CCDSi CCDS9747.1.
    RefSeqi NP_031400.2. NM_007374.2.
    UniGenei Hs.194756.

    3D structure databases

    ProteinModelPortali O95475.
    SMRi O95475. Positions 1-189.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111034. 4 interactions.
    STRINGi 9606.ENSP00000328596.

    PTM databases

    PhosphoSitei O95475.

    Proteomic databases

    MaxQBi O95475.
    PaxDbi O95475.
    PRIDEi O95475.

    Protocols and materials databases

    DNASUi 4990.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000327720 ; ENSP00000328596 ; ENSG00000184302 .
    GeneIDi 4990.
    KEGGi hsa:4990.
    UCSCi uc001xfa.4. human.

    Organism-specific databases

    CTDi 4990.
    GeneCardsi GC14P060975.
    GeneReviewsi SIX6.
    HGNCi HGNC:10892. SIX6.
    HPAi HPA001403.
    MIMi 212550. phenotype.
    606326. gene.
    neXtProti NX_O95475.
    Orphaneti 264200. 14q22q23 microdeletion syndrome.
    2543. Microphthalmia - cataract.
    PharmGKBi PA35792.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG244436.
    HOGENOMi HOG000261680.
    HOVERGENi HBG003609.
    InParanoidi O95475.
    OMAi TASMFQL.
    OrthoDBi EOG7C5M8Z.
    PhylomeDBi O95475.
    TreeFami TF315545.

    Miscellaneous databases

    GenomeRNAii 4990.
    NextBioi 19216.
    PROi O95475.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O95475.
    Bgeei O95475.
    CleanExi HS_SIX6.
    Genevestigatori O95475.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi 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 PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "OPTX2, a novel gene expressed in the eye, belongs to a cluster of sine oculis-related homeobox genes."
      Leppert G.S., Yang J.-M., Toy J., Sundin O.H.
      Submitted (OCT-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASN-141.
      Tissue: Eye.
    2. "Six9 (Optx2), a new member of the Six gene family of transcription factors, is expressed at early stages of vertebrate ocular and pituitary development."
      Lopez-Rios J., Gallardo E., Rodriguez de Cordoba S., Bovolenta P.
      Mech. Dev. 83:155-159(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ASN-141.
    3. "Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies."
      Gallardo M.E., Lopez-Rios J., Fernaud-Espinosa I., Granadino B., Sanz R., Ramos C., Ayuso C., Seller M.J., Brunner H.G., Bovolenta P., Rodriguez de Cordoba S.
      Genomics 61:82-91(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASN-141.
    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 ASN-141.
    5. "Human-specific amino acid changes found in 103 protein-coding genes."
      Kitano T., Liu Y.-H., Ueda S., Saitou N.
      Mol. Biol. Evol. 21:936-944(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-165.
    6. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-212; SER-221; SER-225; SER-227 AND SER-228, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    7. "Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia."
      Gallardo M.E., Rodriguez De Cordoba S., Schneider A.S., Dwyer M.A., Ayuso C., Bovolenta P.
      Am. J. Med. Genet. A 129:92-94(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MCOPCT2 ALA-165, VARIANT ASN-141.

    Entry informationi

    Entry nameiSIX6_HUMAN
    AccessioniPrimary (citable) accession number: O95475
    Secondary accession number(s): Q6NT42, Q9P1X8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: October 3, 2006
    Last modified: October 1, 2014
    This is version 125 of the entry and version 2 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

    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3