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P32242

- OTX1_HUMAN

UniProt

P32242 - OTX1_HUMAN

Protein

Homeobox protein OTX1

Gene

OTX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 1 (01 Oct 1993)
      Previous versions | rss
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    Functioni

    Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC-3'.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi38 – 9760HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
    2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. diencephalon morphogenesis Source: Ensembl
    3. inner ear morphogenesis Source: Ensembl
    4. metencephalon development Source: Ensembl
    5. midbrain development Source: Ensembl
    6. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein OTX1
    Alternative name(s):
    Orthodenticle homolog 1
    Gene namesi
    Name:OTX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:8521. OTX1.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA32848.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 354354Homeobox protein OTX1PRO_0000049207Add
    BLAST

    Proteomic databases

    PaxDbiP32242.
    PRIDEiP32242.

    PTM databases

    PhosphoSiteiP32242.

    Expressioni

    Tissue specificityi

    Expressed in brain. Detected in the anterior part of the neural fetal retina (at protein level).1 Publication

    Developmental stagei

    Embryo.

    Gene expression databases

    ArrayExpressiP32242.
    BgeeiP32242.
    CleanExiHS_OTX1.
    GenevestigatoriP32242.

    Organism-specific databases

    HPAiCAB012341.
    HPA052122.

    Interactioni

    Protein-protein interaction databases

    BioGridi111053. 4 interactions.
    IntActiP32242. 8 interactions.
    MINTiMINT-1437362.
    STRINGi9606.ENSP00000282549.

    Structurei

    3D structure databases

    ProteinModelPortaliP32242.
    SMRiP32242. Positions 39-108.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi275 – 30127His-richAdd
    BLAST

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG245767.
    HOVERGENiHBG004028.
    InParanoidiP32242.
    KOiK09326.
    OMAiQTAASSW.
    OrthoDBiEOG74J98P.
    PhylomeDBiP32242.
    TreeFamiTF351179.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR003026. Otx1_TF.
    IPR003025. Otx_TF.
    IPR013851. Otx_TF_C.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF03529. TF_Otx. 1 hit.
    [Graphical view]
    PRINTSiPR01256. OTX1HOMEOBOX.
    PR01255. OTXHOMEOBOX.
    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.

    P32242-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMSYLKQPPY GMNGLGLAGP AMDLLHPSVG YPATPRKQRR ERTTFTRSQL    50
    DVLEALFAKT RYPDIFMREE VALKINLPES RVQVWFKNRR AKCRQQQQSG 100
    SGTKSRPAKK KSSPVRESSG SESSGQFTPP AVSSSASSSS SASSSSANPA 150
    AAAAAGLGGN PVAAASSLST PAASSIWSPA SISPGSAPAS VSVPEPLAAP 200
    SNTSCMQRSV AAGAATAAAS YPMSYGQGGS YGQGYPTPSS SYFGGVDCSS 250
    YLAPMHSHHH PHQLSPMAPS SMAGHHHHHP HAHHPLSQSS GHHHHHHHHH 300
    HQGYGGSGLA FNSADCLDYK EPGAAAASSA WKLNFNSPDC LDYKDQASWR 350
    FQVL 354
    Length:354
    Mass (Da):37,327
    Last modified:October 1, 1993 - v1
    Checksum:iE32C1E47464BDDAA
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK095680 mRNA. Translation: BAG53106.1.
    AC009501 Genomic DNA. Translation: AAY24357.1.
    CH471053 Genomic DNA. Translation: EAW99967.1.
    BC007621 mRNA. Translation: AAH07621.1.
    CCDSiCCDS1873.1.
    PIRiS39406.
    RefSeqiNP_001186699.1. NM_001199770.1.
    NP_055377.1. NM_014562.3.
    UniGeneiHs.734360.

    Genome annotation databases

    EnsembliENST00000282549; ENSP00000282549; ENSG00000115507.
    ENST00000366671; ENSP00000355631; ENSG00000115507.
    GeneIDi5013.
    KEGGihsa:5013.
    UCSCiuc002scd.3. human.

    Polymorphism databases

    DMDMi417425.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK095680 mRNA. Translation: BAG53106.1 .
    AC009501 Genomic DNA. Translation: AAY24357.1 .
    CH471053 Genomic DNA. Translation: EAW99967.1 .
    BC007621 mRNA. Translation: AAH07621.1 .
    CCDSi CCDS1873.1.
    PIRi S39406.
    RefSeqi NP_001186699.1. NM_001199770.1.
    NP_055377.1. NM_014562.3.
    UniGenei Hs.734360.

    3D structure databases

    ProteinModelPortali P32242.
    SMRi P32242. Positions 39-108.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111053. 4 interactions.
    IntActi P32242. 8 interactions.
    MINTi MINT-1437362.
    STRINGi 9606.ENSP00000282549.

    PTM databases

    PhosphoSitei P32242.

    Polymorphism databases

    DMDMi 417425.

    Proteomic databases

    PaxDbi P32242.
    PRIDEi P32242.

    Protocols and materials databases

    DNASUi 5013.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000282549 ; ENSP00000282549 ; ENSG00000115507 .
    ENST00000366671 ; ENSP00000355631 ; ENSG00000115507 .
    GeneIDi 5013.
    KEGGi hsa:5013.
    UCSCi uc002scd.3. human.

    Organism-specific databases

    CTDi 5013.
    GeneCardsi GC02P063277.
    HGNCi HGNC:8521. OTX1.
    HPAi CAB012341.
    HPA052122.
    MIMi 600036. gene.
    neXtProti NX_P32242.
    PharmGKBi PA32848.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG245767.
    HOVERGENi HBG004028.
    InParanoidi P32242.
    KOi K09326.
    OMAi QTAASSW.
    OrthoDBi EOG74J98P.
    PhylomeDBi P32242.
    TreeFami TF351179.

    Miscellaneous databases

    GeneWikii OTX1.
    GenomeRNAii 5013.
    NextBioi 19298.
    PROi P32242.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P32242.
    Bgeei P32242.
    CleanExi HS_OTX1.
    Genevestigatori P32242.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR003026. Otx1_TF.
    IPR003025. Otx_TF.
    IPR013851. Otx_TF_C.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF03529. TF_Otx. 1 hit.
    [Graphical view ]
    PRINTSi PR01256. OTX1HOMEOBOX.
    PR01255. OTXHOMEOBOX.
    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 vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo."
      Simeone A., Acampora D., Mallamaci A., Stornaiuolo A., D'Apice M.R., Nigro V., Boncinelli E.
      EMBO J. 12:2735-2747(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "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].
      Tissue: Brain.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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.
    6. "Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina."
      Larsen K.B., Lutterodt M., Rath M.F., Moeller M.
      Int. J. Dev. Neurosci. 27:485-492(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiOTX1_HUMAN
    AccessioniPrimary (citable) accession number: P32242
    Secondary accession number(s): A6NHA2, B3KTJ4, Q53TG6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1993
    Last sequence update: October 1, 1993
    Last modified: October 1, 2014
    This is version 133 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3