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Q9QX98

- PTF1A_MOUSE

UniProt

Q9QX98 - PTF1A_MOUSE

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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

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. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: MGI
  5. 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
Complete GO annotation...

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
Complete GO annotation...

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.
ExpressionAtlasiQ9QX98. differential.
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

        10         20         30         40         50
MDAVLLEHFP GGLDTFPSPY FDEEDFFTDQ SSRDPLEDSD ELLGDEQAEV
60 70 80 90 100
EFLSHQLHEY CYRDGACLLL QPAPSAAPHA LAPPPLGDPG EPEDNVSYCC
110 120 130 140 150
DAGAPLAAFP YSPGSPPSCL AYPCAAVLSP GARLGGLNGA AAAAAARRRR
160 170 180 190 200
RVRSEAELQQ LRQAANVRER RRMQSINDAF EGLRSHIPTL PYEKRLSKVD
210 220 230 240 250
TLRLAIGYIN FLSELVQADL PLRGSGAGGC GGPGGSRHLG EDSPGNQAQK
260 270 280 290 300
VIICHRGTRS PSPSDPDYGL PPLAGHSLSW TDEKQLKEQN IIRTAKVWTP
310 320
EDPRKLNSKS FDNIENEPPF EFVS
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.
ExpressionAtlasi Q9QX98. differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 109 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