PTF1A Gene Summary [Human]
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, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PTF1A |
| Official Name | pancreas associated transcription factor 1a [Source:HGNC Symbol;Acc:HGNC:23734] |
| Ensembl ID | ENSG00000168267 |
| Bio databases IDs | |
| Aliases | pancreas associated transcription factor 1a |
| Synonyms | bHLHa29, p48, PACA, PAGEN2, pancreas associated transcription factor 1a, pancreas specific transcription factor, 1a, PTF1-p48 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PTF1A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- helix loop helix domain
- Helix-loop-helix DNA-binding domain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypoglycemia
- cyanosis
- permanent neonatal diabetes mellitus with pancreatic and cerebellar agenesis
- diabetes mellitus
- pancreatic agenesis type 2
- neonatal diabetes mellitus
- decreased urinary activity of kallikrein
- maturity-onset diabetes of the young
role in cell
- expression in
- number
- differentiation
- morphology
- transdifferentiation
- quantity
- commitment
- generation
- localization
- transactivation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- intracellular space
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PTF1A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- amacrine cell differentiation
- regulation of neural retina development
- cerebellum development
- transcription from RNA polymerase II promoter
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- tissue development
- regulation of transcription from RNA polymerase II promoter
- retinoic acid receptor signaling pathway
- neuron fate commitment
- retina layer formation
- developmental process
- exocrine pancreas development
- pancreas development
Cellular Component
Where in the cell the gene product is active
- transcription factor complex
- nucleus
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- protein dimerization activity
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- E-box binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity