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Pancreas transcription factor 1 subunit alpha (Pancreas-specific transcription factor 1a) (bHLH transcription factor p48) (p48 DNA-binding subunit of transcription factor PTF1) (PTF1-p48)

 PTF1A_RAT               Reviewed;         326 AA.
Q64305;
02-MAY-2006, integrated into UniProtKB/Swiss-Prot.
01-NOV-1996, sequence version 1.
05-DEC-2018, entry version 127.
RecName: Full=Pancreas transcription factor 1 subunit alpha;
AltName: Full=Pancreas-specific transcription factor 1a;
AltName: Full=bHLH transcription factor p48;
AltName: Full=p48 DNA-binding subunit of transcription factor PTF1;
Short=PTF1-p48;
Name=Ptf1a; Synonyms=Ptf1p48;
Rattus norvegicus (Rat).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Rattus.
NCBI_TaxID=10116;
[1]
NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 2-18 AND 176-194,
FUNCTION, SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
TISSUE=Pancreas;
PubMed=8861960;
Krapp A., Knoefler M., Frutiger S., Hughes G.J., Hagenbuechle O.,
Wellauer P.K.;
"The p48 DNA-binding subunit of transcription factor PTF1 is a new
exocrine pancreas-specific basic helix-loop-helix protein.";
EMBO J. 15:4317-4329(1996).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND FUNCTION.
STRAIN=Sprague-Dawley;
PubMed=8703005; DOI=10.1074/jbc.271.36.21993;
Knoefler M., Krapp A., Hagenbuechle O., Wellauer P.K.;
"Constitutive expression of the gene for the cell-specific p48 DNA-
binding subunit of pancreas transcription factor 1 in cultured cells
is under control of binding sites for transcription factors SP1 and
alpha CBF.";
J. Biol. Chem. 271:21993-22002(1996).
[3]
FUNCTION IN PANCREAS DEVELOPMENT, AND TISSUE SPECIFICITY.
PubMed=10768861;
Adell T., Gomez-Cuadrado A., Skoudy A., Pettengill O.S.,
Longnecker D.S., Real F.X.;
"Role of the basic helix-loop-helix transcription factor p48 in the
differentiation phenotype of exocrine pancreas cancer cells.";
Cell Growth Differ. 11:137-147(2000).
-!- 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.
{ECO:0000269|PubMed:10768861, ECO:0000269|PubMed:8703005,
ECO:0000269|PubMed:8861960}.
-!- SUBUNIT: 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 (By similarity).
{ECO:0000250}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-
ProRule:PRU00981, ECO:0000269|PubMed:8861960}. Cytoplasm
{ECO:0000269|PubMed:8861960}. Note=In the cytoplasm loses its
ability to form the PTF1 complex.
-!- TISSUE SPECIFICITY: Exocrine pancreas-specific. Expressed in
azaserine-induced pancreatic tumors (at protein level). Expressed
in AR42J cells but not in ARIP, DSL6A, or DSL6B cells. Down-
regulation is associated with the change of an azaserine-induced
acinar cell carcinoma to a ductal phenotype.
{ECO:0000269|PubMed:10768861}.
-!- DEVELOPMENTAL STAGE: Expressed from day 12 of gestation in
pancreatic structures. {ECO:0000269|PubMed:8861960}.
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EMBL; X98170; CAA66851.1; -; mRNA.
EMBL; X98446; CAA67076.1; -; Genomic_DNA.
PIR; S71755; S71755.
RefSeq; NP_446416.1; NM_053964.1.
UniGene; Rn.10536; -.
ProteinModelPortal; Q64305; -.
SMR; Q64305; -.
BioGrid; 250633; 1.
CORUM; Q64305; -.
STRING; 10116.ENSRNOP00000022727; -.
PaxDb; Q64305; -.
PRIDE; Q64305; -.
Ensembl; ENSRNOT00000022727; ENSRNOP00000022727; ENSRNOG00000016902.
GeneID; 117034; -.
KEGG; rno:117034; -.
UCSC; RGD:621709; rat.
CTD; 256297; -.
RGD; 621709; Ptf1a.
eggNOG; KOG4029; Eukaryota.
eggNOG; ENOG411227D; LUCA.
GeneTree; ENSGT00940000161000; -.
HOGENOM; HOG000231913; -.
HOVERGEN; HBG082224; -.
InParanoid; Q64305; -.
KO; K09073; -.
OMA; YCCEAGA; -.
OrthoDB; EOG091G0RR2; -.
PhylomeDB; Q64305; -.
TreeFam; TF315153; -.
PRO; PR:Q64305; -.
Proteomes; UP000002494; Chromosome 17.
Genevisible; Q64305; RN.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0005634; C:nucleus; IDA:UniProtKB.
GO; GO:0005667; C:transcription factor complex; IDA:UniProtKB.
GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:RGD.
GO; GO:0070888; F:E-box binding; IEA:Ensembl.
GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
GO; GO:0001077; F:proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
GO; GO:0000980; F:RNA polymerase II distal enhancer sequence-specific DNA binding; IDA:MGI.
GO; GO:0035881; P:amacrine cell differentiation; ISS:UniProtKB.
GO; GO:0021549; P:cerebellum development; ISS:UniProtKB.
GO; GO:0031017; P:exocrine pancreas development; IDA:UniProtKB.
GO; GO:0048699; P:generation of neurons; ISS:UniProtKB.
GO; GO:0030902; P:hindbrain development; ISS:UniProtKB.
GO; GO:0048663; P:neuron fate commitment; IEA:Ensembl.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:UniProtKB.
GO; GO:0061074; P:regulation of neural retina development; ISS:UniProtKB.
GO; GO:0006355; P:regulation of transcription, DNA-templated; IDA:UniProtKB.
GO; GO:0010842; P:retina layer formation; ISS:UniProtKB.
GO; GO:0048384; P:retinoic acid receptor signaling pathway; ISS:UniProtKB.
GO; GO:0009888; P:tissue development; ISS:UniProtKB.
CDD; cd00083; HLH; 1.
Gene3D; 4.10.280.10; -; 1.
InterPro; IPR011598; bHLH_dom.
InterPro; IPR036638; HLH_DNA-bd_sf.
Pfam; PF00010; HLH; 1.
SMART; SM00353; HLH; 1.
SUPFAM; SSF47459; SSF47459; 1.
PROSITE; PS50888; BHLH; 1.
1: Evidence at protein level;
Complete proteome; Cytoplasm; Developmental protein; Differentiation;
Direct protein sequencing; DNA-binding; Neurogenesis; Nucleus;
Reference proteome; Transcription; Transcription regulation.
CHAIN 1 326 Pancreas transcription factor 1 subunit
alpha.
/FTId=PRO_0000233145.
DOMAIN 162 214 bHLH. {ECO:0000255|PROSITE-
ProRule:PRU00981}.
COMPBIAS 140 148 Poly-Ala.
SEQUENCE 326 AA; 35305 MW; E06D0132390E429F CRC64;
MDAVLLEHFP GALDTFPSSY FDEEDFFTDQ SSRDPLEDGD ELLGDEQAEV EFLSHQLHEY
CYRDGACLLL QPAPSAAPHA LAPPPLGDPG EPEDSGSYCC DAGAPLGAFP YSPGSPPSCL
AYPCTAVLSP GTRLRGLNGA AAAAAAAARR RRRVRSEAEL QQLRQAANVR ERRRMQSIND
AFEGLRSHIP TLPYEKRLSK VDTLRLAIGY INFLSELVQA DLPLRGSGTG GCGGPGGSRH
LGGDSPGNQA QKVIICHRGT RSPSPSDPDY GLPPLAGHSL SWADEKQLKE QNIIRTAKVW
TPEDPRKLNS KSFDNIENEP PFEFVS


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