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Q9QX98

- PTF1A_MOUSE

UniProt

Q9QX98 - PTF1A_MOUSE

Protein

Pancreas transcription factor 1 subunit alpha

Gene

Ptf1a

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an important role in cerebellar development. Directly regulated by FOXN4 and RORC during retinal development, FOXN4-PTF1A pathway plays a central role in directing the differentiation of retinal progenitors towards horizontal and amacrine fates.5 Publications

    GO - Molecular functioni

    1. chromatin binding Source: MGI
    2. DNA binding Source: UniProtKB
    3. E-box binding Source: MGI
    4. protein binding Source: UniProtKB
    5. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: MGI
    6. sequence-specific DNA binding Source: MGI

    GO - Biological processi

    1. amacrine cell differentiation Source: UniProtKB
    2. cell differentiation Source: MGI
    3. cell fate commitment Source: MGI
    4. cerebellum development Source: UniProtKB
    5. embryo development Source: UniProtKB
    6. endocrine pancreas development Source: Reactome
    7. exocrine pancreas development Source: HGNC
    8. generation of neurons Source: UniProtKB
    9. hindbrain development Source: UniProtKB
    10. neuron fate commitment Source: MGI
    11. pancreas development Source: MGI
    12. positive regulation of transcription, DNA-templated Source: UniProtKB
    13. positive regulation of transcription from RNA polymerase II promoter Source: MGI
    14. regulation of neural retina development Source: UniProtKB
    15. regulation of transcription, DNA-templated Source: UniProtKB
    16. retina layer formation Source: UniProtKB
    17. retina morphogenesis in camera-type eye Source: MGI
    18. retinoic acid receptor signaling pathway Source: UniProtKB
    19. tissue development Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_208465. Regulation of gene expression in early pancreatic precursor cells.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Pancreas transcription factor 1 subunit alpha
    Alternative name(s):
    Pancreas-specific transcription factor 1a
    bHLH transcription factor p48
    p48 DNA-binding subunit of transcription factor PTF1
    Short name:
    PTF1-p48
    Gene namesi
    Name:Ptf1a
    Synonyms:Ptf1p48
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 2

    Organism-specific databases

    MGIiMGI:1328312. Ptf1a.

    Subcellular locationi

    Nucleus. Cytoplasm
    Note: In the cytoplasm loses its ability to form the PTF1 complex.

    GO - Cellular componenti

    1. cytoplasm Source: HGNC
    2. cytosol Source: Reactome
    3. intracellular Source: MGI
    4. nucleoplasm Source: Reactome
    5. nucleus Source: HGNC
    6. transcription factor complex Source: HGNC

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Disruption phenotypei

    Early postnatal lethal phenotype characterized by a lack of the exocrine pancreas, however, islet-like endocrine cell clusters are formed. A redirection of pancreatic precursors to intestinal fates is seen. At E16.5 embryos show reduced size of cerebellar primordium and cerebellar aplasia.3 Publications

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 324324Pancreas transcription factor 1 subunit alphaPRO_0000233144Add
    BLAST

    Proteomic databases

    PRIDEiQ9QX98.

    PTM databases

    PhosphoSiteiQ9QX98.

    Expressioni

    Tissue specificityi

    Expressed in precursors of pancreatic islets, acini and ducts.1 Publication

    Developmental stagei

    Expressed at an early stage of pancreas development, shortly after the onset of endodermal budding that forms the pancreatic anlage. In E9.5 embryo, expression is in the myelencephalon and the neural tube at the cervical level. In the E10.5 embryo expression expands as a thin stripe to the posterior end of the neural tube. The central nervous system anterior to the myelencephalon is devoid of expression at this stage. In E12-12.5 embryo, expression expands anteriorly to the cerebellum region. During retinogenesis, restricted to postmitotic neuronal precursor population in the ventricular zone of the developing retina. Not expressed before E12.5 when is detected in the central region of the retina. By 14.5, expands from the center to the entire retina. Between E16.5 and P1, continues to be expressed strongly in a subset of cells within the outer neuroblastic layer. Expression begins to be down-regulated by P2 and is undetectable in retinas from P6.4 Publications

    Gene expression databases

    BgeeiQ9QX98.
    CleanExiMM_PTF1A.
    GenevestigatoriQ9QX98.

    Interactioni

    Subunit structurei

    Component of the pancreas transcription factor 1 complex (PTF1) which is composed of TCF3/p75, TCF12/p64 and PTF1A/p48. TCF3 is responsible for the nuclear import of the p48/p64 complex. Interacts with TCF3 and RBPSUH/RBP-Jkappa.2 Publications

    Protein-protein interaction databases

    BioGridi202451. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9QX98.
    SMRiQ9QX98. Positions 162-216.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini160 – 21253bHLHPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG288112.
    GeneTreeiENSGT00730000110958.
    HOGENOMiHOG000231913.
    HOVERGENiHBG082224.
    InParanoidiQ9QX98.
    KOiK09073.
    OMAiHEYCYRD.
    OrthoDBiEOG79PJQR.
    PhylomeDBiQ9QX98.
    TreeFamiTF315153.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9QX98-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDAVLLEHFP GGLDTFPSPY FDEEDFFTDQ SSRDPLEDSD ELLGDEQAEV    50
    EFLSHQLHEY CYRDGACLLL QPAPSAAPHA LAPPPLGDPG EPEDNVSYCC 100
    DAGAPLAAFP YSPGSPPSCL AYPCAAVLSP GARLGGLNGA AAAAAARRRR 150
    RVRSEAELQQ LRQAANVRER RRMQSINDAF EGLRSHIPTL PYEKRLSKVD 200
    TLRLAIGYIN FLSELVQADL PLRGSGAGGC GGPGGSRHLG EDSPGNQAQK 250
    VIICHRGTRS PSPSDPDYGL PPLAGHSLSW TDEKQLKEQN IIRTAKVWTP 300
    EDPRKLNSKS FDNIENEPPF EFVS 324
    Length:324
    Mass (Da):35,185
    Last modified:May 1, 2000 - v1
    Checksum:iE74109A84B5CFD79
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti7 – 71E → K in BAA88247. (PubMed:11318877)Curated
    Sequence conflicti11 – 111G → R in BAA88247. (PubMed:11318877)Curated
    Sequence conflicti223 – 2231R → H in BAA88247. (PubMed:11318877)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB035674 Genomic DNA. Translation: BAA88247.1.
    AB035675 mRNA. Translation: BAA88249.1.
    AF298116 Genomic DNA. Translation: AAG31604.1.
    AJ252156 Genomic DNA. Translation: CAB65273.1.
    AK007922 mRNA. Translation: BAE43208.1.
    CCDSiCCDS15715.1.
    RefSeqiNP_061279.2. NM_018809.2.
    UniGeneiMm.69647.

    Genome annotation databases

    EnsembliENSMUST00000028068; ENSMUSP00000028068; ENSMUSG00000026735.
    GeneIDi19213.
    KEGGimmu:19213.
    UCSCiuc012brh.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB035674 Genomic DNA. Translation: BAA88247.1 .
    AB035675 mRNA. Translation: BAA88249.1 .
    AF298116 Genomic DNA. Translation: AAG31604.1 .
    AJ252156 Genomic DNA. Translation: CAB65273.1 .
    AK007922 mRNA. Translation: BAE43208.1 .
    CCDSi CCDS15715.1.
    RefSeqi NP_061279.2. NM_018809.2.
    UniGenei Mm.69647.

    3D structure databases

    ProteinModelPortali Q9QX98.
    SMRi Q9QX98. Positions 162-216.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 202451. 1 interaction.

    PTM databases

    PhosphoSitei Q9QX98.

    Proteomic databases

    PRIDEi Q9QX98.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000028068 ; ENSMUSP00000028068 ; ENSMUSG00000026735 .
    GeneIDi 19213.
    KEGGi mmu:19213.
    UCSCi uc012brh.1. mouse.

    Organism-specific databases

    CTDi 256297.
    MGIi MGI:1328312. Ptf1a.

    Phylogenomic databases

    eggNOGi NOG288112.
    GeneTreei ENSGT00730000110958.
    HOGENOMi HOG000231913.
    HOVERGENi HBG082224.
    InParanoidi Q9QX98.
    KOi K09073.
    OMAi HEYCYRD.
    OrthoDBi EOG79PJQR.
    PhylomeDBi Q9QX98.
    TreeFami TF315153.

    Enzyme and pathway databases

    Reactomei REACT_208465. Regulation of gene expression in early pancreatic precursor cells.

    Miscellaneous databases

    NextBioi 295964.
    PROi Q9QX98.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9QX98.
    CleanExi MM_PTF1A.
    Genevestigatori Q9QX98.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "p48 subunit of mouse PTF1 binds to RBP-Jkappa/CBF-1, the intracellular mediator of Notch signalling, and is expressed in the neural tube of early stage embryos."
      Obata J., Yano M., Mimura H., Goto T., Nakayama R., Mibu Y., Oka C., Kawaichi M.
      Genes Cells 6:345-360(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], DEVELOPMENTAL STAGE, INTERACTION WITH TCF3 AND RBPSUH.
      Strain: ICR.
      Tissue: Embryo.
    2. "The role of PTF1-P48 in pancreatic acinar gene expression."
      Rose S.D., Swift G.H., Peyton M.J., Hammer R.E., MacDonald R.J.
      J. Biol. Chem. 276:44018-44026(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, INTERACTION WITH TCF12.
      Strain: 129.
    3. Wellauer P.K.
      Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Strain: 129/SvJ.
    4. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: C57BL/6J.
      Tissue: Pancreas.
    5. "The bHLH protein PTF1-p48 protein is essential for the formation of the exocrine and the correct spatial organization of the endocrine pancreas."
      Krapp A., Knoefler M., Ledermann B., Buerki K., Berney C., Zoerkler N., Hagenbuechle O., Wellauer P.K.
      Genes Dev. 12:3752-3763(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN PANCREAS DEVELOPMENT, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
      Strain: 129/SvJ.
    6. "The role of the transcriptional regulator Ptf1a in converting intestinal to pancreatic progenitors."
      Kawaguchi Y., Cooper B., Gannon M., Ray M., MacDonald R.J., Wright C.V.
      Nat. Genet. 32:128-134(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN PANCREAS DEVELOPMENT, DEVELOPMENTAL STAGE.
    7. Cited for: FUNCTION IN PANCREAS AND CEREBELLAR DEVELOPMENT, DISRUPTION PHENOTYPE, DEVELOPMENTAL STAGE.
    8. Cited for: FUNCTION IN RETINA DEVELOPMENT, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.

    Entry informationi

    Entry nameiPTF1A_MOUSE
    AccessioniPrimary (citable) accession number: Q9QX98
    Secondary accession number(s): Q9QYF5, Q9QYF6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2006
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 108 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3