NEUROD1

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]

Neuronal Differentiation 1

Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).

Amacrine cell differentiation Source: UniProtKB
Anterior/posterior pattern specification Source: Ensembl
Cellular response to glucose stimulus Source: Ensembl
Cerebellum development Source: UniProtKB
Dentate gyrus development Source: UniProtKB
Embryonic organ morphogenesis Source: BHF-UCL
Endocrine pancreas development Source: UniProtKB
Enteroendocrine cell differentiation Source: UniProtKB
Glucose homeostasis Source: BHF-UCL
Inner ear development Source: UniProtKB
Insulin secretion Source: BHF-UCL
Negative regulation of receptor signaling pathway via JAK-STAT Source: Ensembl
Negative regulation of type B pancreatic cell apoptotic process Source: BHF-UCL
Neurogenesis Source: BHF-UCL
Neuron development Source: InterPro
Neuron differentiation Source: GO_Central
Nitric oxide mediated signal transduction Source: BHF-UCL
Nucleocytoplasmic transport Source: Ensembl
Pancreatic A cell fate commitment Source: Ensembl
Pancreatic PP cell fate commitment Source: Ensembl
Positive regulation of apoptotic process Source: UniProtKB
Positive regulation of cell differentiation Source: UniProtKB
Positive regulation of DNA-binding transcription factor activity Source: UniProtKB
Positive regulation of neuron differentiation Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Positive regulation of transcription regulatory region DNA binding Source: BHF-UCL
Regulation of insulin secretion Source: BHF-UCL
Regulation of intestinal epithelial structure maintenance Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Response to glucose Source: BHF-UCL
Response to xenobiotic stimulus Source: Ensembl
Signal transduction involved in regulation of gene expression Source: Ensembl

Cytoplasm By similarity
Nucleus
Note: In pancreatic islet cells, shuttles to the nucleus in response to glucose stimulation (By similarity). Colocalizes with NR0B2 in the nucleus.

Maturity-onset diabetes of the young 6 (MODY6):
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Diabetes mellitus, non-insulin-dependent (NIDDM):
A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

Phosphorylated. In islet cells, phosphorylated on Ser-274 upon glucose stimulation; which may be required for nuclear localization. In activated neurons, phosphorylated on Ser-335; which promotes dendritic growth. Phosphorylated by MAPK1; phosphorylation regulates heterodimerization and DNA-binding activities. Phosphorylation on Ser-266 and Ser-274 increases transactivation on the insulin promoter in glucose-stimulated insulinoma cells (By similarity).