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

• transcriptional activator
• binds to the E-box consensus sequence 5'-CANNTG-3'
• role in determining whether cells allocated to pancreatic buds continue towards pancreatic organogenesis or revert to duodenal development
• maintenance of exocrine pancreas-specific gene expression including ELA1 & amylase
• formation of pancreatic acinar & ductal cells
• role in cerebellar development
• component of the pancreas transcription factor 1 complex
• 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

• 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

More general terms

• transcription factor (TF)
• DNA-binding protein

Component of

• pancreas transcription factor 1 complex (PTF1)

Database

• OMIM: https://mirror.omim.org/entry/607194
• UniProt: http://www.uniprot.org/uniprot/Q7RTS3.html