InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PTF1A

Summary

InnateDB Protein

IDBP-62661.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PTF1A

Protein Name

pancreas specific transcription factor, 1a

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000365687

InnateDB Gene

IDBG-62659 (PTF1A)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:10768861, ECO:0000269PubMed:15543146}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- 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}.

Disease Associations

Pancreatic 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:0000269PubMed:15543146}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Pancreas-specific (at protein level). Loss of expression is seen in ductal type pancreas cancers. {ECO:0000269PubMed:10768861}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0005515	protein binding
GO:0043565	sequence-specific DNA binding
GO:0046983	protein dimerization activity
GO:0070888	E-box binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0009790	embryo development
GO:0009888	tissue development
GO:0010842	retina layer formation
GO:0021549	cerebellum development
GO:0030154	cell differentiation
GO:0030902	hindbrain development
GO:0031016	pancreas development
GO:0031017	exocrine pancreas development
GO:0031018	endocrine pancreas development
GO:0035881	amacrine cell differentiation
GO:0045165	cell fate commitment
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048384	retinoic acid receptor signaling pathway
GO:0048663	neuron fate commitment
GO:0048699	generation of neurons
GO:0060042	retina morphogenesis in camera-type eye
GO:0061074	regulation of neural retina development