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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, PTF1P48)
Function:
1) transcriptional activator
2) binds to the E-box consensus sequence 5'-CANNTG-3'
3) role in determining whether cells allocated to pancreatic buds continue towards pancreatic organogenesis or revert to duodenal development
4) maintenance of exocrine pancreas-specific gene expression including ELA1 & amylase
5) formation of pancreatic acinar & ductal cells
6) role in cerebellar development
7) component of the pancreas transcription factor 1 complex
8) interacts with TCF3 & RBPSUH/RBP-Jkappa
* marker of acinar cell differentiation in pancreas
Structure:
- contains 1 basic helix-loop-helix (bHLH) domain
Compartment:
- nucleus, cytoplasm
- in cytoplasm, loses its ability to form the PTF1 complex
Expression: expressed in pancreas
Pathology:
1) defects in PTF1A are the cause of diabetes mellitus & cerebellar hypoplasia (cerebellar agenesis)
- in chronic pancreatitis associated with pancreatic cancer preferentially accumulates in the cytoplasm of acinar/ductular complexes
General
DNA-binding protein
transcription factor (TF)
Properties
SIZE: MW = 35 kD
entity length = 328 aa
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: DNA-binding motif
SITE: 150-175
helix-loop-helix
NAME: helix-loop-helix
SITE: 176-216
FOR-BINDING-VIA: helix-loop-helix
glycine-rich region {227-248}
Database Correlations
OMIM 607194
MORBIDMAP 607194
UniProt Q7RTS3
Pfam PF00010
References
- UniProt :accession Q7RTS3
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=PTF1A
Component-of
pancreas transcription factor 1 complex (PTF1)