ISL1 Gene Summary [Human]
This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ISL1 |
| Official Name | ISL LIM homeobox 1 [Source:HGNC Symbol;Acc:HGNC:6132] |
| Ensembl ID | ENSG00000016082 |
| Bio databases IDs | |
| Aliases | ISL LIM homeobox 1 |
| Synonyms | ISL1 transcription factor, LIM/homeodomain, ISLET1, ISL LIM homeobox 1 |
| 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 ISL1 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
- LIM-domain binding
- transcription regulator
- ligand-dependent nuclear receptor interactor
- nucleic acid binding
- LIM is a small protein-protein interaction domain, containing two zinc fingers
- transcription factor binding
- chromatin binding
- estrogen receptor binding
- protein binding
- glutamine-rich domain
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- homeodomain
Pathways
Biological processes and signaling networks where the ISL1 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
- neuroblastoma
- neuroblastoma formation
- failure of heart looping
- congenital heart disease
- MYCN amplification negative neuroblastoma
- MYCN amplification positive aggressive neuroblastoma
- hyperglycemia
- small cell lung cancer
role in cell
- proliferation
- quantity
- differentiation
- apoptosis
- expression in
- growth
- migration
- cell death
- commitment
- depletion
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
- Cytoplasm
- nucleoplasm
- chromatin
- axons
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ISL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- trigeminal nerve development
- ventricular cardiac muscle tissue morphogenesis
- transcription from RNA polymerase II promoter
- positive regulation of tyrosine phosphorylation of STAT protein
- positive regulation of angiogenesis
- endocardial cushion morphogenesis
- sensory system development
- positive regulation of granulocyte macrophage colony-stimulating factor production
- mesenchymal cell differentiation
- axonogenesis
- positive regulation of interferon-gamma production
- positive regulation of tumor necrosis factor production
- positive regulation of granulocyte colony-stimulating factor production
- positive regulation vascular endothelial growth factor production
- negative regulation of inflammatory response
- cardiac cell fate determination
- pharyngeal system development
- regulation of secondary heart field cardioblast proliferation
- pituitary gland development
- cardiac right ventricle morphogenesis
- secondary heart field specification
- neural crest cell migration
- regulation of heart rate by cardiac conduction
- positive regulation of interleukin-6 production
- cell proliferation
- positive regulation of cell proliferation
- innervation
- outflow tract morphogenesis
- negative regulation of neuron differentiation
- positive regulation of transcription from RNA polymerase II promoter
- peripheral nervous system neuron axonogenesis
- negative regulation of neuron apoptotic process
- negative regulation of transcription from RNA polymerase II promoter
- outflow tract septum morphogenesis
- heart development
- neuron fate specification
- canonical Wnt receptor signaling pathway
- negative regulation of protein complex assembly
- positive regulation of insulin secretion
- pancreas development
- retinal ganglion cell axon guidance
- spinal cord motor neuron differentiation
- positive regulation of cell differentiation
- visceral motor neuron differentiation
- cardiac muscle cell myoblast differentiation
- spinal cord motor neuron cell fate specification
- atrial septum morphogenesis
- sinoatrial node cell development
- negative regulation of canonical Wnt receptor signaling pathway
- positive regulation of interleukin-12 production
- cellular response to glucocorticoid stimulus
- negative regulation of intracellular estrogen receptor signaling pathway
- positive regulation of interleukin-1 alpha production
- positive regulation of interleukin-1 beta production
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- ligand-dependent nuclear receptor binding
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- estrogen receptor binding
- bHLH transcription factor binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity