disease:Defects in PTF1A are the cause of diabetes mellitus and cerebellar hypoplasia/agenesis [MIM:609069].,function:Transcriptional activator. Binds to the E-box consensus sequence 5'-CANNTG-3'. Plays an important role in 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 (By similarity). Plays an important role in cerebellar development.,miscellaneous:An excellent marker of acinar cell differentiation in the pancreas.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,subcellular location: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.,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.,tissue specificity:Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers.,
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). .
Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers.
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