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Q8N196

- SIX5_HUMAN

UniProt

Q8N196 - SIX5_HUMAN

Protein

Homeobox protein SIX5

Gene

SIX5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 3 (26 Jun 2007)
      Previous versions | rss
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    Functioni

    Transcription factor that is thought to be involved in regulation of organogenesis. May be involved in determination and maintenance of retina formation. Binds a 5'-GGTGTCAG-3' motif present in the ARE regulatory element of ATP1A1. Binds a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 element in the myogenin promoter, and in the IGFBP5 promoter By similarity. Thought to be regulated by association with Dach and Eya proteins, and seems to be coactivated by EYA1, EYA2 and EYA3 By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi201 – 26060HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. sequence-specific DNA binding Source: Ensembl
    3. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. lens development in camera-type eye Source: Ensembl
    2. negative regulation of cell proliferation Source: Ensembl
    3. spermatid development Source: Ensembl
    4. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein SIX5
    Alternative name(s):
    DM locus-associated homeodomain protein
    Sine oculis homeobox homolog 5
    Gene namesi
    Name:SIX5
    Synonyms:DMAHP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:10891. SIX5.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 PublicationPROSITE-ProRule annotation

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Branchiootorenal syndrome 2 (BOR2) [MIM:610896]: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti158 – 1581A → T in BOR2; affects Eya1 binding and the ability to activate gene transcription. 1 Publication
    VAR_032941
    Natural varianti296 – 2961A → T in BOR2. 1 Publication
    VAR_032942
    Natural varianti365 – 3651G → R in BOR2. 1 Publication
    VAR_032943
    Natural varianti552 – 5521T → M in BOR2; affects Eya1 binding and the ability to activate gene transcription. 1 Publication
    Corresponds to variant rs80356464 [ dbSNP | Ensembl ].
    VAR_032944

    Keywords - Diseasei

    Deafness, Disease mutation

    Organism-specific databases

    MIMi610896. phenotype.
    Orphaneti107. BOR syndrome.
    PharmGKBiPA35791.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 739739Homeobox protein SIX5PRO_0000049305Add
    BLAST

    Proteomic databases

    MaxQBiQ8N196.
    PaxDbiQ8N196.
    PRIDEiQ8N196.

    PTM databases

    PhosphoSiteiQ8N196.

    Expressioni

    Tissue specificityi

    Expressed in adult but not in fetal eyes. Found in corneal epithelium and endothelium, lens epithelium, ciliary body epithelia, cellular layers of the retina and the sclera.1 Publication

    Developmental stagei

    At the begin of fourth week of development detected in cytoplasm of somite cells, and at the end of fourth week is accumulated in the nucleus. Between the sixth and eighth week of development detected in the nucleus of limb bud cells.1 Publication

    Gene expression databases

    ArrayExpressiQ8N196.
    BgeeiQ8N196.
    CleanExiHS_SIX5.
    GenevestigatoriQ8N196.

    Organism-specific databases

    HPAiHPA042068.

    Interactioni

    Subunit structurei

    Probably binds DNA dimer. Interacts with EYA3, and probably EYA1 and EYA2 By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ATXN1P542534EBI-946167,EBI-930964

    Protein-protein interaction databases

    BioGridi127096. 4 interactions.
    IntActiQ8N196. 4 interactions.
    MINTiMINT-2855964.
    STRINGi9606.ENSP00000316842.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N196.
    SMRiQ8N196. Positions 86-259.
    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

    eggNOGiNOG244874.
    HOGENOMiHOG000154329.
    HOVERGENiHBG050139.
    InParanoidiQ8N196.
    OMAiAFQRGEY.
    OrthoDBiEOG7C5M8Z.
    PhylomeDBiQ8N196.
    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.

    Q8N196-1 [UniParc]FASTAAdd to Basket

    « Hide

    MATLPAEPSA GPAAGGEAVA AAAATEEEEE EARQLLQTLQ AAEGEAAAAA    50
    GAGAGAAAAG AEGPGSPGVP GSPPEAASEP PTGLRFSPEQ VACVCEALLQ 100
    AGHAGRLSRF LGALPPAERL RGSDPVLRAR ALVAFQRGEY AELYRLLESR 150
    PFPAAHHAFL QDLYLRARYH EAERARGRAL GAVDKYRLRK KFPLPKTIWD 200
    GEETVYCFKE RSRAALKACY RGNRYPTPDE KRRLATLTGL SLTQVSNWFK 250
    NRRQRDRTGA GGGAPCKSES DGNPTTEDES SRSPEDLERG AAPVSAEAAA 300
    QGSIFLAGTG PPAPCPASSS ILVNGSFLAA SGSPAVLLNG GPVIINGLAL 350
    GEASSLGPLL LTGGGGAPPP QPSPQGASET KTSLVLDPQT GEVRLEEAQS 400
    EAPETKGAQV AAPGPALGEE VLGPLAQVVP GPPTAATFPL PPGPVPAVAA 450
    PQVVPLSPPP GYPTGLSPTS PLLNLPQVVP TSQVVTLPQA VGPLQLLAAG 500
    PGSPVKVAAA AGPANVHLIN SGVGVTALQL PSATAPGNFL LANPVSGSPI 550
    VTGVALQQGK IILTATFPTS MLVSQVLPPA PGLALPLKPE TAISVPEGGL 600
    PVAPSPALPE AHALGTLSAQ QPPPAAATTS STSLPFSPDS PGLLPNFPAP 650
    PPEGLMLSPA AVPVWSAGLE LSAGTEGLLE AEKGLGTQAP HTVLRLPDPD 700
    PEGLLLGATA GGEVDEGLEA EAKVLTQLQS VPVEEPLEL 739
    Length:739
    Mass (Da):74,562
    Last modified:June 26, 2007 - v3
    Checksum:iD8A2E8DBBBA263A2
    GO

    Sequence cautioni

    The sequence AAH33204.1 differs from that shown. Reason: Aberrant splicing.
    The sequence AK074826 differs from that shown. Reason: Erroneous termination at position 721. Translated as Glu.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti158 – 1581A → T in BOR2; affects Eya1 binding and the ability to activate gene transcription. 1 Publication
    VAR_032941
    Natural varianti296 – 2961A → T in BOR2. 1 Publication
    VAR_032942
    Natural varianti365 – 3651G → R in BOR2. 1 Publication
    VAR_032943
    Natural varianti552 – 5521T → M in BOR2; affects Eya1 binding and the ability to activate gene transcription. 1 Publication
    Corresponds to variant rs80356464 [ dbSNP | Ensembl ].
    VAR_032944
    Natural varianti556 – 5561L → V.
    Corresponds to variant rs2014377 [ dbSNP | Ensembl ].
    VAR_032945
    Natural varianti635 – 6351P → S.
    Corresponds to variant rs2014576 [ dbSNP | Ensembl ].
    VAR_032946
    Natural varianti693 – 6931V → M.
    Corresponds to variant rs2341097 [ dbSNP | Ensembl ].
    VAR_032947

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X84813 Genomic DNA. No translation available.
    AC074212 Genomic DNA. No translation available.
    BC033204 mRNA. Translation: AAH33204.1. Sequence problems.
    BU859227 mRNA. No translation available.
    AK074826 mRNA. No translation available.
    CCDSiCCDS12673.1.
    RefSeqiNP_787071.2. NM_175875.4.
    UniGeneiHs.43314.

    Genome annotation databases

    EnsembliENST00000317578; ENSP00000316842; ENSG00000177045.
    GeneIDi147912.
    KEGGihsa:147912.
    UCSCiuc002pdb.3. human.

    Polymorphism databases

    DMDMi150421671.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X84813 Genomic DNA. No translation available.
    AC074212 Genomic DNA. No translation available.
    BC033204 mRNA. Translation: AAH33204.1 . Sequence problems.
    BU859227 mRNA. No translation available.
    AK074826 mRNA. No translation available.
    CCDSi CCDS12673.1.
    RefSeqi NP_787071.2. NM_175875.4.
    UniGenei Hs.43314.

    3D structure databases

    ProteinModelPortali Q8N196.
    SMRi Q8N196. Positions 86-259.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127096. 4 interactions.
    IntActi Q8N196. 4 interactions.
    MINTi MINT-2855964.
    STRINGi 9606.ENSP00000316842.

    PTM databases

    PhosphoSitei Q8N196.

    Polymorphism databases

    DMDMi 150421671.

    Proteomic databases

    MaxQBi Q8N196.
    PaxDbi Q8N196.
    PRIDEi Q8N196.

    Protocols and materials databases

    DNASUi 147912.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000317578 ; ENSP00000316842 ; ENSG00000177045 .
    GeneIDi 147912.
    KEGGi hsa:147912.
    UCSCi uc002pdb.3. human.

    Organism-specific databases

    CTDi 147912.
    GeneCardsi GC19M046268.
    GeneReviewsi SIX5.
    H-InvDB HIX0202857.
    HGNCi HGNC:10891. SIX5.
    HPAi HPA042068.
    MIMi 600963. gene.
    610896. phenotype.
    neXtProti NX_Q8N196.
    Orphaneti 107. BOR syndrome.
    PharmGKBi PA35791.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG244874.
    HOGENOMi HOG000154329.
    HOVERGENi HBG050139.
    InParanoidi Q8N196.
    OMAi AFQRGEY.
    OrthoDBi EOG7C5M8Z.
    PhylomeDBi Q8N196.
    TreeFami TF315545.

    Miscellaneous databases

    GeneWikii SIX5.
    GenomeRNAii 147912.
    NextBioi 85758.
    PROi Q8N196.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N196.
    Bgeei Q8N196.
    CleanExi HS_SIX5.
    Genevestigatori Q8N196.

    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. "A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat."
      Boucher C.A., King S.K., Carey N., Krahe R., Winchester C.L., Rahman S., Creavin T., Meghji P., Bailey M.E., Chartier F.L., Brown S.D., Sicilliano M.J., Johnson K.J.
      Hum. Mol. Genet. 4:1919-1925(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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].
      Tissue: Eye.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 185-739.
    5. "Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy."
      Winchester C.L., Ferrier R.K., Sermoni A., Clark B.J., Johnson K.J.
      Hum. Mol. Genet. 8:481-492(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.
    6. "Functional analysis of the homeodomain protein SIX5."
      Harris S.E., Winchester C.L., Johnson K.J.
      Nucleic Acids Res. 28:1871-1878(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: DNA-BINDING.
    7. Cited for: SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE.
    8. Cited for: VARIANTS BOR2 THR-158; THR-296; ARG-365 AND MET-552, CHARACTERIZATION OF VARIANTS BOR2 THR-158 AND MET-552.

    Entry informationi

    Entry nameiSIX5_HUMAN
    AccessioniPrimary (citable) accession number: Q8N196
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 13, 2004
    Last sequence update: June 26, 2007
    Last modified: October 1, 2014
    This is version 112 of the entry and version 3 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 19
      Human chromosome 19: 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