InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NEUROD1

Summary

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

Comments

Interactions

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]
RNA-RNA	0
DNA-RNA	0

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

PDB ID

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
PF12533

PRINTS

PIRSF

PIRSF015618

SMART

SM00353

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt