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PTF1A 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. Plays an important role in cerebellar development. Defects in PTF1A are the cause of diabetes mellitus and cerebellar hypoplasia/agenesis (DMCH). Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 10p12.2
Cellular Component: cytoplasm; nucleus; transcription factor complex
Molecular Function: chromatin binding; DNA binding; protein dimerization activity
Biological Process: cerebellum development; embryonic development; exocrine pancreas development; neuron fate commitment; pancreas development; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-templated; retinoic acid receptor signaling pathway; tissue development; transcription from RNA polymerase II promoter
Disease: Pancreatic Agenesis 2; Pancreatic And Cerebellar Agenesis
Reference #:  Q7RTS3 (UniProtKB)
Alt. Names/Synonyms: bHLH transcription factor p48; BHLHA29; Class A basic helix-loop-helix protein 29; class II bHLH protein PTF1A; exocrine pancreas-specific transcription factor p48; p48 DNA-binding subunit of transcription factor PTF1; pancreas specific transcription factor, 1a; Pancreas transcription factor 1 subunit alpha; Pancreas-specific transcription factor 1a; PTF1-p48; PTF1A; PTF1P48
Gene Symbols: PTF1A
Molecular weight: 34,970 Da
Basal Isoelectric point: 5.1  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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