NEUROD1 Human Recombinant Protein

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]

NEUROD1: 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 stimulates transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor p21Cip1. 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. Interacts (via helix-loop-helix motif domain) with EP300 (via C-terminus). Heterodimer with TCF3/E47; the heterodimer is inhibited in presence of ID2, but not NR0B2, to E- box element. Efficient DNA-binding requires dimerization with another bHLH protein. Interacts with RREB1. Interacts with EP300; the interaction is inhibited by NR0B2. Interacts with TCF3; the interaction is inhibited by ID2.

Protein type: Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 2q32

Cellular Component: nucleoplasm; cytoplasm; nucleus

Molecular Function: protein binding; sequence-specific DNA binding; protein heterodimerization activity; double-stranded DNA binding; transcription coactivator activity; chromatin binding; transcription factor activity; transcription factor binding

Biological Process: response to drug; dentate gyrus development; transcription, DNA-dependent; positive regulation of apoptosis; positive regulation of transcription, DNA-dependent; nucleocytoplasmic transport; glucose homeostasis; endocrine pancreas development; anterior/posterior pattern formation; embryonic organ morphogenesis; neurogenesis; insulin secretion; response to glucose stimulus; cerebellum development; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription factor activity; positive regulation of neuron differentiation; positive regulation of cell differentiation; regulation of insulin secretion; negative regulation of JAK-STAT cascade; nitric oxide mediated signal transduction; inner ear development

Disease: Maturity-onset Diabetes Of The Young, Type 6; Diabetes Mellitus, Noninsulin-dependent