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neurogenic differentiation factor 1; neuroD; neuroD1; class A basic helix-loop-helix protein 3; bHLHa3 (NEUROD1, BHLHA3, NEUROD)
Function:
- acts as a transcriptional activator
- mediates transcriptional activation by binding to E box- containing promoter consensus core sequences 5'-CANNTG-3'
- associates with p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene for the CDK inhibitor CDKN1A
- regulation of several cell differentiation pathways, such as those that promote formation of
- early retinal ganglion cells
- inner ear sensory neurons
- granule cells forming the cerebellum
- granule cells forming the dentate gyrus cell layer of the hippocampus
- endocrine islet cells of the pancreas
- 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 & maintenance in the cerebellar cortex
- associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis
- phosphorylated
- in islet cells, phosphorylation on Ser-274 upon glucose stimulation may be required for nuclear localization
- in activated neurons, phosphorylation on Ser-335 promotes dendritic growth
- phosphorylation by MAPK1 regulates heterodimerization & DNA-binding activities
- phosphorylation on Ser-266 & Ser-274 increases transactivation on the insulin promoter in glucose-stimulated insulinoma cells (putative)
- interacts (via helix-loop-helix motif domain) with EP300 (via C-terminus) (putative)
- heterodimer with TCF3/E47
- binding to the E-box element is inhibited by ID2
- efficient DNA-binding requires dimerization with another bHLH protein
- interacts with RREB1
- interacts with EP300: interaction is inhibited by NR0B2
- interacts with TCF3: interaction is inhibited by ID2
Structure:
- contains 1 basic helix-loop-helix (bHLH) domain
Compartment:
- cytoplasm (putative)
- nucleus
- in pancreatic islet cells, shuttles to the nucleus in response to glucose stimulation (putative)
- colocalizes with NR0B2 in the nucleus
Pathology:
- defects in NEUROD1 are the cause of maturity-onset diabetes of the young type 6
General
neurogenic differentiation factor
phosphoprotein
Properties
SIZE: entity length = 356 aa
MW = 40 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: glutamate-rich region {58-77}
MOTIF: glutamate residue (SEVERAL)
glutamate-rich region {67-75}
MOTIF: glutamate residue (SEVERAL)
nuclear translocation signal {87-93}
MOTIF: lysine-rich region {87-90}
MOTIF: lysine residue (SEVERAL)
DNA-binding motif
SITE: 102-113
helix-loop-helix
NAME: helix-loop-helix
SITE: 114-154
FOR-BINDING-VIA: helix-loop-helix
Ser phosphorylation site {S162}
Ser phosphorylation site {S259}
Ser phosphorylation site {S266}
Ser phosphorylation site {S274}
Ser phosphorylation site {S335}
Database Correlations
OMIM correlations
MORBIDMAP 601724
UniProt Q13562
PFAM correlations
Entrez Gene 4760
Kegg hsa:4760
References
- UniProt :accession Q13562
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/NEUROD1