PTF1A

This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq]

Full Name

pancreas specific transcription factor, 1a

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.

Biological Process

Amacrine cell differentiationISS:UniProtKB
Cerebellum developmentManual Assertion Based On ExperimentIMP:UniProtKB
Developmental processManual Assertion Based On ExperimentIBA:GO_Central
Exocrine pancreas developmentISS:UniProtKB
Neuron fate commitmentIEA:Ensembl
Pancreas developmentManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of neural retina developmentISS:UniProtKB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription, DNA-templatedISS:UniProtKB
Retina layer formationISS:UniProtKB
Retinoic acid receptor signaling pathwayIEA:Ensembl
Tissue developmentManual Assertion Based On ExperimentIDA:UniProtKB
Transcription by RNA polymerase IIIEA:Ensembl

Cellular Location

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).

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.
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.