MGP Database

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MGP006890

UniProt Annotations

Entry Information
Gene Namepancreas specific transcription factor, 1a
Protein EntryPTF1A_HUMAN
UniProt IDQ7RTS3
SpeciesHuman
Comments
Comment typeDescription
DiseasePancreatic agenesis 2 (PAGEN2) [MIM:615935]: 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. {ECO:0000269|PubMed:24212882}. Note=The disease is caused by mutations 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). {ECO:0000269|PubMed:24212882}.
DiseasePancreatic and cerebellar agenesis (PACA) [MIM:609069]: 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. {ECO:0000269|PubMed:15543146}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTranscription 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. {ECO:0000269|PubMed:10768861, ECO:0000269|PubMed:15543146}.
MiscellaneousAn excellent marker of acinar cell differentiation in the pancreas.
SimilarityContains 1 bHLH (basic helix-loop-helix) domain. {ECO:0000255|PROSITE-ProRule:PRU00981}.
Subcellular LocationNucleus {ECO:0000255|PROSITE- ProRule:PRU00981}. Cytoplasm {ECO:0000250}. Note=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). {ECO:0000250}.
SubunitComponent 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 (By similarity). {ECO:0000250}.
Tissue SpecificityPancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers. {ECO:0000269|PubMed:10768861}.
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