PTF1A
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.
Involvement in disease
Pancreatic and cerebellar agenesis
PACA
A disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very little subcutaneous fat, and dysmorphic facial features.
None
The disease is caused by variants affecting the gene represented in this entry.
Pancreatic agenesis 2
PAGEN2
A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency.
None
The disease is caused by variants affecting the gene represented in this entry. In some families with pancreatic agenesis, disease causing mutations affect the sequence and activity of an enhancer region of 400-bp located 25 kb downstream of PTF1A (PubMed:24212882).
Tissue Specificity
Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers.
Cellular localization
- Nucleus
- Cytoplasm
- In chronic pancreatitis associated with pancreas cancer preferentially accumulates in the cytoplasm of acinar/ductular complexes. In the cytoplasm loses its ability to form the PTF1 complex (By similarity).
Alternative names
BHLHA29, PTF1P48, PTF1A, Pancreas transcription factor 1 subunit alpha, Class A basic helix-loop-helix protein 29, Pancreas-specific transcription factor 1a, bHLH transcription factor p48, p48 DNA-binding subunit of transcription factor PTF1, bHLHa29, PTF1-p48