Homo sapiens Protein: NEUROD1
InnateDB Protein IDBP-76794.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NEUROD1
Protein Name neurogenic differentiation 1
Synonyms BETA2; BHF-1; bHLHa3; MODY6; NEUROD;
Species Homo sapiens
Ensembl Protein ENSP00000295108
InnateDB Gene IDBG-76792 (NEUROD1)
Protein Structure
UniProt Annotation
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 similarity). {ECO:0000250}.
Subcellular Localization Cytoplasm {ECO:0000250}. Nucleus {ECO:0000255PROSITE-ProRule:PRU00981, ECO:0000269PubMed: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}.
Disease Associations Maturity-onset diabetes of the young 6 (MODY6) [MIM:606394]: 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. {ECO:0000269PubMed:10545951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 11 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003690 double-stranded DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0070888 E-box binding
Biological Process
GO:0003326 pancreatic A cell fate commitment
GO:0003329 pancreatic PP cell fate commitment
GO:0006351 transcription, DNA-templated
GO:0006913 nucleocytoplasmic transport
GO:0007263 nitric oxide mediated signal transduction
GO:0009749 response to glucose
GO:0009952 anterior/posterior pattern specification
GO:0021542 dentate gyrus development
GO:0021549 cerebellum development
GO:0022008 neurogenesis
GO:0023019 signal transduction involved in regulation of gene expression
GO:0030073 insulin secretion
GO:0030902 hindbrain development
GO:0031018 endocrine pancreas development
GO:0035881 amacrine cell differentiation
GO:0035883 enteroendocrine cell differentiation
GO:0042493 response to drug
GO:0042593 glucose homeostasis
GO:0043010 camera-type eye development
GO:0043065 positive regulation of apoptotic process
GO:0045165 cell fate commitment
GO:0045597 positive regulation of cell differentiation
GO:0045664 regulation of neuron differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046426 negative regulation of JAK-STAT cascade
GO:0048562 embryonic organ morphogenesis
GO:0048839 inner ear development
GO:0050796 regulation of insulin secretion
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060730 regulation of intestinal epithelial structure maintenance
GO:0071156 regulation of cell cycle arrest
GO:0071333 cellular response to glucose stimulus
GO:2000675 negative regulation of type B pancreatic cell apoptotic process
GO:2000679 positive regulation of transcription regulatory region DNA binding
Cellular Component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
Protein Structure and Domains
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
IPR016637 Transcription factor, basic helix-loop-helix, NeuroD
IPR022575 Neurogenic differentiation factor, domain of unknown function
PFAM PF00010
Post-translational Modifications
SwissProt Q13562
PhosphoSite PhosphoSite-
UniProt Splice Variant
Entrez Gene 4760
UniGene Hs.741598
RefSeq NP_002491
OMIM 601724
HPRD 03428
EMBL AB009997 AB016079 AB018693 AB593068 AB593069 AB593070 AB593071 AC013733 AF045152 AK313799 BC009046 BT019731 CH471058 D82347 U36472 U50822 U80578
GenPept AAA79702 AAA93480 AAC51318 AAC83145 AAH09046 AAV38536 AAY24267 BAA11558 BAA36519 BAA76603 BAA87605 BAG36535 BAJ84015 BAJ84016 BAJ84017 BAJ84018 EAX10983