PDX1 Gene Summary [Human]
The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]
Details
| Type | Protein Coding |
| Official Symbol | PDX1 |
| Official Name | pancreatic and duodenal homeobox 1 [Source:HGNC Symbol;Acc:HGNC:6107] |
| Ensembl ID | ENSG00000139515 |
| Bio databases IDs | |
| Aliases | pancreatic and duodenal homeobox 1, Islet/duodenum homeobox-1, somatostatin transcription factor 1, Glucose-sensitive factor, insulin upstream factor 1 |
| Synonyms | GSF, Gstf, IDX-1, IPF-1, IPF2, IUF1, MODY4, PAGEN1, pancreatic and duodenal homeobox 1, STF-1, β-TF1 |
| 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 PDX1 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
- activation domain
- transcription regulator
- nucleic acid binding
- transcription activation domain
- transcription factor binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- binding protein
- double-stranded DNA binding
- heterodimerization domain
- Pka phosphorylation site
- homeodomain
- transcription factor activity
Pathways
Biological processes and signaling networks where the PDX1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hyperplasia
- susceptibility to type 2 diabetes mellitus
- colorectal cancer
- morbid obesity
- congenital pancreatic agenesis
- gastric ulcer
- rectal adenocarcinoma
- colorectal carcinomagenesis
- rectum cancer
- growth failure
role in cell
- splicing in
- cell viability
- expression in
- apoptosis
- number
- quantity
- cell death
- function
- proliferation
- differentiation
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
- nuclear fraction
- intracellular space
- cytosol
- nucleoplasm
- nuclear rim
- nuclear speckles
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDX1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to cytokine stimulus
- insulin secretion
- response to iron(II) ion
- transcription from RNA polymerase II promoter
- type B pancreatic cell apoptotic process
- response to leucine
- response to xenobiotic stimulus
- glucose metabolic process
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- stem cell differentiation
- digestive tract development
- type B pancreatic cell proliferation
- liver development
- type B pancreatic cell differentiation
- response to glucocorticoid stimulus
- negative regulation of type B pancreatic cell apoptotic process
- transdifferentiation
- morphogenesis of embryonic epithelium
- response to fatty acid
- positive regulation of insulin secretion
- glucose mediated signaling pathway
- exocrine pancreas development
- positive regulation of insulin secretion involved in cellular response to glucose stimulus
- response to chlorate
- generation of precursor metabolites and energy
- response to vitamin
- smoothened signaling pathway
- response to alkaloid
- response to nicotine
- regulation of transcription from RNA polymerase II promoter
- organ morphogenesis
- negative regulation of epithelial cell proliferation
- intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
- organ regeneration
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear speck
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity