NEUROD1 Gene Summary [Human]
This gene encodes a member of the NeuroD family of basic helix-loop-helix (bHLH) transcription factors. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]
Details
| Type | Processed Transcript |
| Official Symbol | NEUROD1 |
| Official Name | neuronal differentiation 1 [Source:HGNC Symbol;Acc:HGNC:7762] |
| Ensembl ID | ENSG00000162992 |
| Bio databases IDs | |
| Aliases | neuronal differentiation 1, beta-cell E-box transactivator 2, neurogenic helix-loop-helix protein NEUROD |
| Synonyms | BASIC HELIX-LOOP-HELIX, Beta2/NeuroD, BHF-1, bHLHa3, DKFZP564f093, MODY6, Nd1, NEUROD, NEUROD1 (MODY6), NeuroD/Beta2, neurogenic differentiation 1, neuronal differentiation 1, T2D |
| 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 NEUROD1 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
- basic Helix Loop Helix (bHLH) domain superfamily
- transcription activation domain
- transcription factor binding
- chromatin binding
- protein binding
- sequence-specific DNA binding
- acidic domain
- DNA binding
- Neuronal helix-loop-helix transcription factor
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- helix loop helix domain
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- transcription factor activity
- protein heterodimerization
Pathways
Biological processes and signaling networks where the NEUROD1 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
- non-insulin-dependent diabetes mellitus
- seizures
- diabetes mellitus
- hyperglycemia
- impaired glucose tolerance
- ketoaciduria
- metastasis
- monogenic diabetes
- tonic-clonic seizure
- tumorigenesis
role in cell
- activation in
- binding in
- expression in
- colony formation
- apoptosis
- number
- migration
- proliferation
- survival
- cell death
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
- intracellular space
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NEUROD1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- amacrine cell differentiation
- inner ear development
- enteroendocrine cell differentiation
- insulin secretion
- signal transduction involved in regulation of gene expression
- anterior/posterior pattern specification
- transcription from RNA polymerase II promoter
- positive regulation of neuron differentiation
- neurogenesis
- response to xenobiotic stimulus
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of sequence-specific DNA binding transcription factor activity
- JAK-STAT cascade
- embryonic organ morphogenesis
- regulation of insulin secretion
- nucleocytoplasmic transport
- pancreatic A cell fate commitment
- response to glucose stimulus
- positive regulation of transcription regulatory region DNA binding
- positive regulation of transcription, DNA-dependent
- pancreatic PP cell fate commitment
- cellular response to glucose stimulus
- negative regulation of type B pancreatic cell apoptotic process
- endocrine pancreas development
- cerebellum development
- positive regulation of cell differentiation
- regulation of intestinal epithelial structure maintenance
- sensory organ development
- dentate gyrus development
- negative regulation of JAK-STAT cascade
- positive regulation of apoptotic process
- glucose homeostasis
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- protein heterodimerization activity
- sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- E-box binding