• Gene id: 4760

Gene Summary

• Gene Symbol: NEUROD1   Gene   UCSC   Ensembl
• Aliases: BETA2, BHF-1, MODY6, NEUROD, bHLHa3
• Gene name: neuronal differentiation 1
• Alternate names: neurogenic differentiation factor 1, basic helix-loop-helix transcription factor, beta-cell E-box transactivator 2, class A basic helix-loop-helix protein 3, neurogenic helix-loop-helix protein NEUROD,
• Gene location: 2q31.3 (181680664: 181668294)     Exons: 36     NC_000002.12
• Gene summary(Entrez): 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. I
• OMIM: 601724

Protein Summary

• Protein general information: Q13562  
  • Name: Neurogenic differentiation factor 1 (NeuroD) (NeuroD1) (Class A basic helix loop helix protein 3) (bHLHa3)
  • Length: 356  
  • Mass: 39920
• Sequence:

  MTKSYSESGLMGEPQPQGPPSWTDECLSSQDEEHEADKKEDDLETMNAEEDSLRNGGEEEDEDEDLEEEEEEEEE
  DDDQKPKRRGPKKKKMTKARLERFKLRRMKANARERNRMHGLNAALDNLRKVVPCYSKTQKLSKIETLRLAKNYI
  WALSEILRSGKSPDLVSFVQTLCKGLSQPTTNLVAGCLQLNPRTFLPEQNQDMPPHLPTASASFPVHPYSYQSPG
  LPSPPYGTMDSSHVFHVKPPPHAYSAALEPFFESPLTDCTSPSFDGPLSPPLSINGNFSFKHEPSAEFEKNYAFT
  MHYPAATLAGAQSHGSIFSGTAAPRCEIPIDNIMSFDSHSHHERVMSAQLNAIFHD

• Structural information:
  • Protein Domains: (101..15-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR032652  IPR022575  IPR016637  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000295108
• Other Databases: GeneCards:  NEUROD1  Malacards:  NEUROD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0046982	protein heterodimerization activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045666	positive regulation of neuron differentiation	ISS	biological process
GO:0045597	positive regulation of cell differentiation	ISS	biological process
GO:0035883	enteroendocrine cell differentiation	ISS	biological process
GO:0035881	amacrine cell differentiation	ISS	biological process
GO:0021549	cerebellum development	ISS	biological process
GO:0021542	dentate gyrus development	ISS	biological process
GO:0003682	chromatin binding	ISS	molecular function
GO:0071156	regulation of cell cycle arrest	ISS	biological process
GO:0060730	regulation of intestinal epithelial structure maintenance	ISS	biological process
GO:0048839	inner ear development	ISS	biological process
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0031018	endocrine pancreas development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048666	neuron development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0031018	endocrine pancreas development	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071333	cellular response to glucose stimulus	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0046426	negative regulation of receptor signaling pathway via JAK-STAT	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043010	camera-type eye development	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0035883	enteroendocrine cell differentiation	IEA	biological process
GO:0035881	amacrine cell differentiation	IEA	biological process
GO:0023019	signal transduction involved in regulation of gene expression	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0021542	dentate gyrus development	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0003326	pancreatic A cell fate commitment	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0006913	nucleocytoplasmic transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	IEA	biological process
GO:0071156	regulation of cell cycle arrest	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0060730	regulation of intestinal epithelial structure maintenance	IEA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0048562	embryonic organ morphogenesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045664	regulation of neuron differentiation	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0031018	endocrine pancreas development	IEA	biological process
GO:0030902	hindbrain development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003329	pancreatic PP cell fate commitment	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	contributes to
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0030073	insulin secretion	IDA	biological process
GO:2000679	positive regulation of transcription regulatory region DNA binding	IDA	biological process
GO:0005634	nucleus	IC	cellular component
GO:0007263	nitric oxide mediated signal transduction	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0050796	regulation of insulin secretion	IC	biological process
GO:0009749	response to glucose	IMP	biological process
GO:0022008	neurogenesis	TAS	biological process
GO:0042593	glucose homeostasis	ISS	biological process
GO:0090575	RNA polymerase II transcription regulator complex	IDA	cellular component
GO:0031018	endocrine pancreas development	ISS	biological process
GO:0048562	embryonic organ morphogenesis	ISS	biological process
GO:2000675	negative regulation of type B pancreatic cell apoptotic process	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Maturity onset diabetes of the young	KEGG:H00410
Maturity onset diabetes of the young	KEGG:H00410
Glucose intolerance	PMID:15277395
Hyperglycemia	PMID:18811724
type 2 diabetes mellitus	PMID:10545951
type 2 diabetes mellitus	PMID:17440689
type 2 diabetes mellitus	PMID:11719843
type 2 diabetes mellitus	PMID:18331410
type 2 diabetes mellitus	PMID:16773428
type 1 diabetes mellitus	PMID:16357810
obesity	PMID:15979049
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)