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P78337

- PITX1_HUMAN

UniProt

P78337 - PITX1_HUMAN

Protein

Pituitary homeobox 1

Gene

PITX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 2 (30 May 2006)
      Previous versions | rss
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    Functioni

    May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi89 – 14860HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
    2. sequence-specific DNA binding Source: InterPro
    3. sequence-specific DNA binding transcription factor activity Source: Ensembl

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. branchiomeric skeletal muscle development Source: Ensembl
    3. cartilage development Source: Ensembl
    4. embryonic hindlimb morphogenesis Source: Ensembl
    5. myoblast fate commitment Source: Ensembl
    6. pituitary gland development Source: Ensembl
    7. skeletal system development Source: ProtInc

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pituitary homeobox 1
    Alternative name(s):
    Hindlimb-expressed homeobox protein backfoot
    Homeobox protein PITX1
    Paired-like homeodomain transcription factor 1
    Gene namesi
    Name:PITX1
    Synonyms:BFT, PTX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:9004. PITX1.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800]: A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti130 – 1301E → K in CCF; reduces the ability to transactivate a luciferase reporter gene; suppresses wild-type activity in a dose-dependent manner. 1 Publication
    VAR_058113
    Liebenberg syndrome (LBNBG) [MIM:186550]: An upper limb-malformation syndrome characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation.1 Publication
    Note: The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving the PITX1 locus results in LBNBG. Translocation t(5;18)(q31.1;q12.3). Additionally, two chromosome 5 deletions located 5'of PITX1 have been found in LBNBG patients. These structural variations cause altered expression of PITX1 in the forelimb via the activation of ectopic enhancers (PubMed:23022097).1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi119800. phenotype.
    186550. phenotype.
    Orphaneti1275. Brachydactyly - elbow wrist dysplasia.
    293144. Familial clubfoot due to 5q31 microdeletion.
    293150. Familial clubfoot due to PITX1 point mutation.
    PharmGKBiPA33338.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 314314Pituitary homeobox 1PRO_0000049218Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei1 – 11N-acetylmethionine1 Publication
    Modified residuei46 – 461Phosphoserine1 Publication
    Modified residuei48 – 481Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiP78337.
    PaxDbiP78337.
    PeptideAtlasiP78337.
    PRIDEiP78337.

    PTM databases

    PhosphoSiteiP78337.

    Expressioni

    Gene expression databases

    ArrayExpressiP78337.
    BgeeiP78337.
    CleanExiHS_PITX1.
    GenevestigatoriP78337.

    Organism-specific databases

    HPAiHPA008743.

    Interactioni

    Protein-protein interaction databases

    BioGridi111324. 9 interactions.
    IntActiP78337. 3 interactions.
    MINTiMINT-260914.
    STRINGi9606.ENSP00000265340.

    Structurei

    3D structure databases

    ProteinModelPortaliP78337.
    SMRiP78337. Positions 89-148.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni147 – 279133Interacts with PIT-1By similarityAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi280 – 29314OARAdd
    BLAST
    Motifi286 – 2905Nuclear localization signalSequence Analysis

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi19 – 246Poly-Pro

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG249113.
    HOGENOMiHOG000273886.
    HOVERGENiHBG068770.
    InParanoidiP78337.
    KOiK09356.
    OMAiCKNSYLP.
    PhylomeDBiP78337.
    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.

    P78337-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDAFKGGMSL ERLPEGLRPP PPPPHDMGPA FHLARPADPR EPLENSASES    50
    SDTELPEKER GGEPKGPEDS GAGGTGCGGA DDPAKKKKQR RQRTHFTSQQ 100
    LQELEATFQR NRYPDMSMRE EIAVWTNLTE PRVRVWFKNR RAKWRKRERN 150
    QQLDLCKGGY VPQFSGLVQP YEDVYAAGYS YNNWAAKSLA PAPLSTKSFT 200
    FFNSMSPLSS QSMFSAPSSI SSMTMPSSMG PGAVPGMPNS GLNNINNLTG 250
    SSLNSAMSPG ACPYGTPASP YSVYRDTCNS SLASLRLKSK QHSSFGYGGL 300
    QGPASGLNAC QYNS 314
    Length:314
    Mass (Da):34,128
    Last modified:May 30, 2006 - v2
    Checksum:iF0DFE45E14508A43
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti17 – 171L → F in AAC51126. (PubMed:9070926)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti130 – 1301E → K in CCF; reduces the ability to transactivate a luciferase reporter gene; suppresses wild-type activity in a dose-dependent manner. 1 Publication
    VAR_058113
    Natural varianti299 – 2991G → A.3 Publications
    Corresponds to variant rs479632 [ dbSNP | Ensembl ].
    VAR_049586

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U70370 mRNA. Translation: AAC51126.1.
    AF009650, AF009648, AF009649 Genomic DNA. Translation: AAB65251.1.
    AK290635 mRNA. Translation: BAF83324.1.
    AC004764 Genomic DNA. Translation: AAC17733.1.
    AC008406 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW62226.1.
    CH471062 Genomic DNA. Translation: EAW62227.1.
    BC009412 mRNA. Translation: AAH09412.1.
    BC003685 mRNA. Translation: AAH03685.1.
    CCDSiCCDS4182.1.
    RefSeqiNP_002644.4. NM_002653.4.
    UniGeneiHs.84136.

    Genome annotation databases

    EnsembliENST00000265340; ENSP00000265340; ENSG00000069011.
    ENST00000506438; ENSP00000427542; ENSG00000069011.
    GeneIDi5307.
    KEGGihsa:5307.
    UCSCiuc010jea.3. human.

    Polymorphism databases

    DMDMi108935922.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U70370 mRNA. Translation: AAC51126.1 .
    AF009650 , AF009648 , AF009649 Genomic DNA. Translation: AAB65251.1 .
    AK290635 mRNA. Translation: BAF83324.1 .
    AC004764 Genomic DNA. Translation: AAC17733.1 .
    AC008406 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW62226.1 .
    CH471062 Genomic DNA. Translation: EAW62227.1 .
    BC009412 mRNA. Translation: AAH09412.1 .
    BC003685 mRNA. Translation: AAH03685.1 .
    CCDSi CCDS4182.1.
    RefSeqi NP_002644.4. NM_002653.4.
    UniGenei Hs.84136.

    3D structure databases

    ProteinModelPortali P78337.
    SMRi P78337. Positions 89-148.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 111324. 9 interactions.
    IntActi P78337. 3 interactions.
    MINTi MINT-260914.
    STRINGi 9606.ENSP00000265340.

    PTM databases

    PhosphoSitei P78337.

    Polymorphism databases

    DMDMi 108935922.

    Proteomic databases

    MaxQBi P78337.
    PaxDbi P78337.
    PeptideAtlasi P78337.
    PRIDEi P78337.

    Protocols and materials databases

    DNASUi 5307.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265340 ; ENSP00000265340 ; ENSG00000069011 .
    ENST00000506438 ; ENSP00000427542 ; ENSG00000069011 .
    GeneIDi 5307.
    KEGGi hsa:5307.
    UCSCi uc010jea.3. human.

    Organism-specific databases

    CTDi 5307.
    GeneCardsi GC05M134363.
    H-InvDB HIX0005190.
    HGNCi HGNC:9004. PITX1.
    HPAi HPA008743.
    MIMi 119800. phenotype.
    186550. phenotype.
    602149. gene.
    neXtProti NX_P78337.
    Orphaneti 1275. Brachydactyly - elbow wrist dysplasia.
    293144. Familial clubfoot due to 5q31 microdeletion.
    293150. Familial clubfoot due to PITX1 point mutation.
    PharmGKBi PA33338.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG249113.
    HOGENOMi HOG000273886.
    HOVERGENi HBG068770.
    InParanoidi P78337.
    KOi K09356.
    OMAi CKNSYLP.
    PhylomeDBi P78337.
    TreeFami TF351940.

    Miscellaneous databases

    ChiTaRSi PITX1. human.
    GeneWikii PITX1.
    GenomeRNAii 5307.
    NextBioi 20514.
    PROi P78337.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P78337.
    Bgeei P78337.
    CleanExi HS_PITX1.
    Genevestigatori P78337.

    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. "Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)."
      Shang J., Li X., Ring H.Z., Clayton D.A., Francke U.
      Genomics 40:108-113(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome."
      Crawford M.J., Lanctot C., Tremblay J.J., Jenkins N.A., Gilbert D.J., Copeland N.G., Beatty B., Drouin J.
      Mamm. Genome 8:841-845(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "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], VARIANT ALA-299.
      Tissue: Embryo.
    4. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-299.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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 ALA-299.
      Tissue: Pancreas and Placenta.
    7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-46 AND SER-48, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: INVOLVEMENT IN LBNBG.
    10. "Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly."
      Klopocki E., Kahler C., Foulds N., Shah H., Joseph B., Vogel H., Luttgen S., Bald R., Besoke R., Held K., Mundlos S., Kurth I.
      Eur. J. Hum. Genet. 20:705-708(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN CCF.
    11. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation."
      Gurnett C.A., Alaee F., Kruse L.M., Desruisseau D.M., Hecht J.T., Wise C.A., Bowcock A.M., Dobbs M.B.
      Am. J. Hum. Genet. 83:616-622(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CCF LYS-130, CHARACTERIZATION OF VARIANT CCF LYS-130.

    Entry informationi

    Entry nameiPITX1_HUMAN
    AccessioniPrimary (citable) accession number: P78337
    Secondary accession number(s): A8K3M0
    , D3DQB0, O14677, O60425, Q9BTI5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: May 30, 2006
    Last modified: October 1, 2014
    This is version 140 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 5
      Human chromosome 5: 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