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O75364

- PITX3_HUMAN

UniProt

O75364 - PITX3_HUMAN

Protein

Pituitary homeobox 3

Gene

PITX3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 136 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    Functioni

    Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi62 – 12160HomeoboxPROSITE-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. dopaminergic neuron differentiation Source: UniProtKB
    2. lens development in camera-type eye Source: UniProtKB
    3. lens fiber cell differentiation Source: Ensembl
    4. lens morphogenesis in camera-type eye Source: UniProtKB
    5. locomotory behavior Source: Ensembl
    6. midbrain development Source: UniProtKB
    7. neuron development Source: Ensembl
    8. organ morphogenesis Source: ProtInc
    9. positive regulation of transcription, DNA-templated Source: UniProtKB
    10. regulation of transcription, DNA-templated Source: UniProtKB
    11. 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:
    Pituitary homeobox 3
    Alternative name(s):
    Homeobox protein PITX3
    Paired-like homeodomain transcription factor 3
    Gene namesi
    Name:PITX3
    Synonyms:PTX3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:9006. PITX3.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Anterior segment mesenchymal dysgenesis (ASMD) [MIM:107250]: A range of developmental defects in structures at the front of the eye, resulting from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Different mature anterior segment anomalies may exist alone or in combination, and are associated with an increased risk of glaucoma and corneal opacity. Conditions falling within the phenotypic spectrum of anterior segment anomalies include aniridia, posterior embryotoxon, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Cataract 11, multiple types (CTRCT11) [MIM:610623]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT11 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131S → N in CTRCT11. 1 Publication
    VAR_003767

    Keywords - Diseasei

    Cataract, Disease mutation

    Organism-specific databases

    MIMi107250. phenotype.
    610623. phenotype.
    Orphaneti162. Cataract-glaucoma.
    88632. Familial ocular anterior segment mesenchymal dysgenesis.
    98993. Posterior polar cataract.
    PharmGKBiPA33340.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 302302Pituitary homeobox 3PRO_0000049229Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei52 – 521PhosphoserineBy similarity
    Modified residuei57 – 571PhosphoserineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO75364.
    PRIDEiO75364.

    PTM databases

    PhosphoSiteiO75364.

    Expressioni

    Tissue specificityi

    Highly expressed in developing eye lens.

    Gene expression databases

    BgeeiO75364.
    CleanExiHS_PITX3.
    HS_PTX3.
    GenevestigatoriO75364.

    Organism-specific databases

    HPAiHPA044639.

    Interactioni

    Subunit structurei

    Interacts with SFPQ.By similarity

    Protein-protein interaction databases

    BioGridi111326. 4 interactions.
    STRINGi9606.ENSP00000359019.

    Structurei

    3D structure databases

    ProteinModelPortaliO75364.
    SMRiO75364. Positions 62-121.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi262 – 27514OARAdd
    BLAST
    Motifi268 – 2725Nuclear localization signalSequence Analysis

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi240 – 25011Poly-AlaAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG249113.
    HOGENOMiHOG000273886.
    HOVERGENiHBG068770.
    InParanoidiO75364.
    KOiK09357.
    OMAiLCKGGFA.
    OrthoDBiEOG7VTDNW.
    PhylomeDBiO75364.
    TreeFamiTF351940.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR016233. Homeobox_Pitx/unc30.
    IPR009057. Homeodomain-like.
    IPR003654. OAR_dom.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O75364-1 [UniParc]FASTAAdd to Basket

    « Hide

    MEFGLLSEAE ARSPALSLSD AGTPHPQLPE HGCKGQEHSD SEKASASLPG    50
    GSPEDGSLKK KQRRQRTHFT SQQLQELEAT FQRNRYPDMS TREEIAVWTN 100
    LTEARVRVWF KNRRAKWRKR ERSQQAELCK GSFAAPLGGL VPPYEEVYPG 150
    YSYGNWPPKA LAPPLAAKTF PFAFNSVNVG PLASQPVFSP PSSIAASMVP 200
    SAAAAPGTVP GPGALQGLGG GPPGLAPAAV SSGAVSCPYA SAAAAAAAAA 250
    SSPYVYRDPC NSSLASLRLK AKQHASFSYP AVHGPPPAAN LSPCQYAVER 300
    PV 302
    Length:302
    Mass (Da):31,832
    Last modified:November 1, 1998 - v1
    Checksum:i1E5259206ABC2E87
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti13 – 131S → N in CTRCT11. 1 Publication
    VAR_003767

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF041339 mRNA. Translation: AAC24502.1.
    AL160011 Genomic DNA. Translation: CAH71624.1.
    BC011642 mRNA. Translation: AAH11642.1.
    CCDSiCCDS7532.1.
    RefSeqiNP_005020.1. NM_005029.3.
    UniGeneiHs.137568.

    Genome annotation databases

    EnsembliENST00000370002; ENSP00000359019; ENSG00000107859.
    ENST00000539804; ENSP00000439383; ENSG00000107859.
    GeneIDi5309.
    KEGGihsa:5309.
    UCSCiuc001kuu.1. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF041339 mRNA. Translation: AAC24502.1 .
    AL160011 Genomic DNA. Translation: CAH71624.1 .
    BC011642 mRNA. Translation: AAH11642.1 .
    CCDSi CCDS7532.1.
    RefSeqi NP_005020.1. NM_005029.3.
    UniGenei Hs.137568.

    3D structure databases

    ProteinModelPortali O75364.
    SMRi O75364. Positions 62-121.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111326. 4 interactions.
    STRINGi 9606.ENSP00000359019.

    PTM databases

    PhosphoSitei O75364.

    Proteomic databases

    PaxDbi O75364.
    PRIDEi O75364.

    Protocols and materials databases

    DNASUi 5309.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370002 ; ENSP00000359019 ; ENSG00000107859 .
    ENST00000539804 ; ENSP00000439383 ; ENSG00000107859 .
    GeneIDi 5309.
    KEGGi hsa:5309.
    UCSCi uc001kuu.1. human.

    Organism-specific databases

    CTDi 5309.
    GeneCardsi GC10M103979.
    GeneReviewsi PITX3.
    HGNCi HGNC:9006. PITX3.
    HPAi HPA044639.
    MIMi 107250. phenotype.
    602669. gene.
    610623. phenotype.
    neXtProti NX_O75364.
    Orphaneti 162. Cataract-glaucoma.
    88632. Familial ocular anterior segment mesenchymal dysgenesis.
    98993. Posterior polar cataract.
    PharmGKBi PA33340.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG249113.
    HOGENOMi HOG000273886.
    HOVERGENi HBG068770.
    InParanoidi O75364.
    KOi K09357.
    OMAi LCKGGFA.
    OrthoDBi EOG7VTDNW.
    PhylomeDBi O75364.
    TreeFami TF351940.

    Miscellaneous databases

    GeneWikii PITX3.
    GenomeRNAii 5309.
    NextBioi 20526.
    PROi O75364.
    SOURCEi Search...

    Gene expression databases

    Bgeei O75364.
    CleanExi HS_PITX3.
    HS_PTX3.
    Genevestigatori O75364.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR016233. Homeobox_Pitx/unc30.
    IPR009057. Homeodomain-like.
    IPR003654. OAR_dom.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF03826. OAR. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000563. Homeobox_protein_Pitx/Unc30. 1 hit.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    PS50803. OAR. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD."
      Semina E.V., Ferrell R.E., Mintz-Hittner H.A., Bitoun P., Alward W.L.M., Reiter R.S., Funkhauser C., Daack-Hirsch S., Murray J.C.
      Nat. Genet. 19:167-170(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CTRCT11 ASN-13, INVOLVEMENT IN ASMD.
      Tissue: Craniofacial.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(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: Muscle.
    4. "Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)."
      Berry V., Yang Z., Addison P.K., Francis P.J., Ionides A., Karan G., Jiang L., Lin W., Hu J., Yang R., Moore A., Zhang K., Bhattacharya S.S.
      J. Med. Genet. 41:E109-E109(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CTRCT11.
    5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiPITX3_HUMAN
    AccessioniPrimary (citable) accession number: O75364
    Secondary accession number(s): Q5VZL2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: November 1, 1998
    Last modified: October 1, 2014
    This is version 136 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 10
      Human chromosome 10: 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