| Gene Symbol |
NEUROD1
|
| Entrez Gene |
4760
|
| Alt Symbol |
BETA2, BHF-1, MODY6, NEUROD, bHLHa3
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
neuronal differentiation 1
|
| Other Description |
basic helix-loop-helix transcription factor|beta-cell E-box transactivator 2|class A basic helix-loop-helix protein 3|neurogenic differentiation factor 1|neurogenic helix-loop-helix protein NEUROD
|
| Swissprots |
Q13340 Q9UEC8 Q96TH0 Q99455 Q13562 F1T0E1 O00343 B2R9I8 Q5U095
|
| Accessions |
AAA93480 AAC83145 AAY24267 BAA36519 BAA76603 BAA87605 EAX10983 Q13562 AB593068 BAJ84015 AB593069 BAJ84016 AB593070 BAJ84017 AB593071 BAJ84018 AK313799 BAG36535 BC009046 AAH09046 BM505034 BT019731 AAV38536 D82347 BAA11558 DA486317 DB472071 DN949274 DQ891560 ABM82486 DQ894747 ABM85673 GQ904713 ADM86143 U36472 AAA79702 U80578 AAC51318 NM_002500 NP_002491
|
| Function |
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 si
|
| Subcellular Location |
Cytoplasm {ECO:0000250}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:14752053}. Note=In pancreatic islet cells, shuttles to the nucleus in response to glucose stimulation (By similarity). Colocalizes with NR0B2 in the nucleus. {ECO:0000250}.
|
| Top Pathways |
Maturity onset diabetes of the young
|