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Q9QX98 (PTF1A_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:Ptf1a
Synonyms:Ptf1p48
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length324 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.2 Ref.5 Ref.6 Ref.7 Ref.8

Subunit structure

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. Ref.1 Ref.2

Subcellular location

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

Tissue specificity

Expressed in precursors of pancreatic islets, acini and ducts. Ref.5

Developmental stage

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. Ref.1 Ref.6 Ref.7 Ref.8

Disruption phenotype

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. Ref.5 Ref.7 Ref.8

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
   Biological processDifferentiation
Neurogenesis
Transcription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processamacrine cell differentiation

Inferred from mutant phenotype Ref.8. Source: UniProtKB

cell differentiation

Inferred from mutant phenotype PubMed 17301087. Source: MGI

cell fate commitment

Inferred from mutant phenotype Ref.6PubMed 17938243. Source: MGI

cerebellum development

Inferred from mutant phenotype Ref.7. Source: UniProtKB

embryo development

Inferred from direct assay Ref.1. Source: UniProtKB

endocrine pancreas development

Traceable author statement. Source: Reactome

exocrine pancreas development

Inferred from sequence or structural similarity. Source: HGNC

generation of neurons

Inferred from direct assay Ref.1. Source: UniProtKB

hindbrain development

Inferred from direct assay Ref.1. Source: UniProtKB

neuron fate commitment

Inferred from direct assay PubMed 16039563. Source: MGI

pancreas development

Inferred from mutant phenotype PubMed 17938243. Source: MGI

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 19887377PubMed 23639443. Source: MGI

positive regulation of transcription, DNA-templated

Inferred from direct assay PubMed 11279116. Source: UniProtKB

regulation of neural retina development

Inferred from mutant phenotype Ref.8. Source: UniProtKB

regulation of transcription, DNA-templated

Inferred from direct assay Ref.7. Source: UniProtKB

retina layer formation

Inferred from mutant phenotype Ref.8. Source: UniProtKB

retina morphogenesis in camera-type eye

Inferred from mutant phenotype PubMed 17301087. Source: MGI

retinoic acid receptor signaling pathway

Inferred from direct assay Ref.1. Source: UniProtKB

tissue development

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from sequence or structural similarity. Source: HGNC

cytosol

Traceable author statement. Source: Reactome

intracellular

Inferred from direct assay PubMed 17938243. Source: MGI

nucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from sequence or structural similarity. Source: HGNC

transcription factor complex

Inferred from sequence or structural similarity. Source: HGNC

   Molecular_functionDNA binding

Inferred from direct assay PubMed 2294404. Source: UniProtKB

E-box binding

Inferred from direct assay PubMed 22232429. Source: MGI

RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription

Inferred from direct assay PubMed 19887377. Source: MGI

chromatin binding

Inferred from direct assay PubMed 23639443. Source: MGI

protein binding

Inferred from physical interaction Ref.1. Source: UniProtKB

sequence-specific DNA binding

Inferred from direct assay PubMed 17938243. Source: MGI

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 324324Pancreas transcription factor 1 subunit alpha
PRO_0000233144

Regions

Domain160 – 21253bHLH

Experimental info

Sequence conflict71E → K in BAA88247. Ref.1
Sequence conflict111G → R in BAA88247. Ref.1
Sequence conflict2231R → H in BAA88247. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9QX98 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: E74109A84B5CFD79

FASTA32435,185
        10         20         30         40         50         60 
MDAVLLEHFP GGLDTFPSPY FDEEDFFTDQ SSRDPLEDSD ELLGDEQAEV EFLSHQLHEY 

        70         80         90        100        110        120 
CYRDGACLLL QPAPSAAPHA LAPPPLGDPG EPEDNVSYCC DAGAPLAAFP YSPGSPPSCL 

       130        140        150        160        170        180 
AYPCAAVLSP GARLGGLNGA AAAAAARRRR RVRSEAELQQ LRQAANVRER RRMQSINDAF 

       190        200        210        220        230        240 
EGLRSHIPTL PYEKRLSKVD TLRLAIGYIN FLSELVQADL PLRGSGAGGC GGPGGSRHLG 

       250        260        270        280        290        300 
EDSPGNQAQK VIICHRGTRS PSPSDPDYGL PPLAGHSLSW TDEKQLKEQN IIRTAKVWTP 

       310        320 
EDPRKLNSKS FDNIENEPPF EFVS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"Mutations in PTF1A cause pancreatic and cerebellar agenesis."
Sellick G.S., Barker K.T., Stolte-Dijkstra I., Fleischmann C., Coleman R.J., Garrett C., Gloyn A.L., Edghill E.L., Hattersley A.T., Wellauer P.K., Goodwin G., Houlston R.S.
Nat. Genet. 36:1301-1305(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN PANCREAS AND CEREBELLAR DEVELOPMENT, DISRUPTION PHENOTYPE, DEVELOPMENTAL STAGE.
[8]"Ptf1a determines horizontal and amacrine cell fates during mouse retinal development."
Fujitani Y., Fujitani S., Luo H., Qiu F., Burlison J., Long Q., Kawaguchi Y., Edlund H., MacDonald R.J., Furukawa T., Fujikado T., Magnuson M.A., Xiang M., Wright C.V.
Development 133:4439-4450(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION IN RETINA DEVELOPMENT, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS15715.1.
RefSeqNP_061279.2. NM_018809.2.
UniGeneMm.69647.

3D structure databases

ProteinModelPortalQ9QX98.
SMRQ9QX98. Positions 162-216.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid202451. 1 interaction.

PTM databases

PhosphoSiteQ9QX98.

Proteomic databases

PRIDEQ9QX98.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000028068; ENSMUSP00000028068; ENSMUSG00000026735.
GeneID19213.
KEGGmmu:19213.
UCSCuc012brh.1. mouse.

Organism-specific databases

CTD256297.
MGIMGI:1328312. Ptf1a.

Phylogenomic databases

eggNOGNOG288112.
GeneTreeENSGT00730000110958.
HOGENOMHOG000231913.
HOVERGENHBG082224.
InParanoidQ9QX98.
KOK09073.
OMAHEYCYRD.
OrthoDBEOG79PJQR.
PhylomeDBQ9QX98.
TreeFamTF315153.

Enzyme and pathway databases

ReactomeREACT_13641. Regulation of Beta-Cell Development.
REACT_188576. Developmental Biology.

Gene expression databases

BgeeQ9QX98.
CleanExMM_PTF1A.
GenevestigatorQ9QX98.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio295964.
PROQ9QX98.
SOURCESearch...

Entry information

Entry namePTF1A_MOUSE
AccessionPrimary (citable) accession number: Q9QX98
Secondary accession number(s): Q9QYF5, Q9QYF6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot