NEUROD1

NEUROD1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2QL2
Identifiers
Aliases	NEUROD1, BETA2, BHF-1, MODY6, NEUROD, bHLHa3, neuronal differentiation 1, T2D
External IDs	OMIM: 601724; MGI: 1339708; HomoloGene: 1871; GeneCards: NEUROD1; OMA:NEUROD1 - orthologs
Gene location (Human)
Chr.	Chromosome 2 (human)
End	181,680,827 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	79,287,095 bp
RNA expression pattern
	Top expressed in
	paraflocculus of cerebellum; ; cerebellar vermis; ; right hemisphere of cerebellum; ; islet of Langerhans; ; ganglionic eminence; ; pons; ; testicle; ; beta cell; ; middle temporal gyrus; ; Brodmann area 10;
	Top expressed in
	lobe of cerebellum; ; cerebellar vermis; ; habenula; ; pineal gland; ; neural layer of retina; ; islet of Langerhans; ; retinal pigment epithelium; ; epithelium of lens; ; deep cerebellar nuclei; ; trigeminal ganglion;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	sequence-specific DNA binding; transcription coactivator activity; DNA binding; protein dimerization activity; DNA-binding transcription factor activity; DNA-binding transcription activator activity, RNA polymerase II-specific; transcription factor binding; chromatin binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; E-box binding; protein binding; protein heterodimerization activity; double-stranded DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	cytoplasm; intracellular anatomical structure; nucleoplasm; RNA polymerase II transcription regulator complex; nucleus;
Biological process	positive regulation of transcription regulatory region DNA binding; regulation of neuron differentiation; neurogenesis; cell differentiation; cell fate commitment; regulation of transcription, DNA-templated; pancreatic PP cell fate commitment; glucose homeostasis; regulation of insulin secretion; enteroendocrine cell differentiation; dentate gyrus development; signal transduction involved in regulation of gene expression; neuron development; insulin secretion; positive regulation of DNA-binding transcription factor activity; response to glucose; transcription by RNA polymerase II; embryonic organ morphogenesis; cerebellum development; transcription, DNA-templated; nervous system development; positive regulation of transcription, DNA-templated; multicellular organism development; hindbrain development; nucleocytoplasmic transport; positive regulation of neuron differentiation; positive regulation of cell differentiation; nitric oxide mediated signal transduction; positive regulation of apoptotic process; regulation of intestinal epithelial structure maintenance; inner ear development; camera-type eye development; pancreatic A cell fate commitment; amacrine cell differentiation; negative regulation of type B pancreatic cell apoptotic process; cellular response to glucose stimulus; anterior/posterior pattern specification; endocrine pancreas development; positive regulation of transcription by RNA polymerase II; negative regulation of receptor signaling pathway via JAK-STAT;
	Sources:Amigo / QuickGO
Orthologs
	4760
	18012
	ENSG00000162992
	ENSMUSG00000034701
	Q13562
	Q60867
	NM_002500
	NM_010894
	NP_002491
	NP_035024
	Wikidata
View/Edit Human	View/Edit Mouse

Neurogenic differentiation 1 (Neurod1), also called β2,^[5] is a transcription factor of the NeuroD-type. It is encoded by the human gene NEUROD1.

In mice, Neurod1 expression is first seen at embryonic day 12 (E12).^[6]

It is a member of the Neurod family of basic helix-loop-helix (bHLH) transcription factors, composed of Neurod1, Neurod2, Neurod4, and Neurod6. The protein forms heterodimers with other bHLH proteins and activates transcription of genes that contain a specific DNA sequence known as the E-box. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus in mouse models and in human clinical patients.^[7]

Neurod1 is found to convert reactive glial cells into functional neurons in the mouse brain in vivo^[8] In the adult cortex, Neurod1 expression is a marker of mature excitatory pyramidal neurons in the upper-most layers of the cortex.^[9]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162992 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000034701 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Poulin G, Turgeon B, Drouin J (November 1997). "NeuroD1/beta2 contributes to cell-specific transcription of the proopiomelanocortin gene". Molecular and Cellular Biology. 17 (11): 6673–6682. doi:10.1128/mcb.17.11.6673. PMC 232521. PMID 9343431.
^ Bormuth I, Yan K, Yonemasu T, Gummert M, Zhang M, Wichert S, et al. (January 2013). "Neuronal basic helix-loop-helix proteins Neurod2/6 regulate cortical commissure formation before midline interactions". The Journal of Neuroscience. 33 (2): 641–651. doi:10.1523/JNEUROSCI.0899-12.2013. PMC 6704922. PMID 23303943. S2CID 25600245.
^ Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, et al. (November 1999). "Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus". Nature Genetics. 23 (3): 323–328. doi:10.1038/15500. PMID 10545951. S2CID 3216136.
^ Guo Z, Zhang L, Wu Z, Chen Y, Wang F, Chen G (February 2014). "In vivo direct reprogramming of reactive glial cells into functional neurons after brain injury and in an Alzheimer's disease model". Cell Stem Cell. 14 (2): 188–202. doi:10.1016/j.stem.2013.12.001. PMC 3967760. PMID 24360883.
^ Tutukova S, Tarabykin V, Hernandez-Miranda LR (2021). "The Role of Neurod Genes in Brain Development, Function, and Disease". Frontiers in Molecular Neuroscience. 14: 662774. doi:10.3389/fnmol.2021.662774. PMC 8221396. PMID 34177462.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000162992 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000034701 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Poulin G, Turgeon B, Drouin J (November 1997). "NeuroD1/beta2 contributes to cell-specific transcription of the proopiomelanocortin gene". Molecular and Cellular Biology. 17 (11): 6673–6682. doi:10.1128/mcb.17.11.6673. PMC 232521. PMID 9343431.

[6] Bormuth I, Yan K, Yonemasu T, Gummert M, Zhang M, Wichert S, et al. (January 2013). "Neuronal basic helix-loop-helix proteins Neurod2/6 regulate cortical commissure formation before midline interactions". The Journal of Neuroscience. 33 (2): 641–651. doi:10.1523/JNEUROSCI.0899-12.2013. PMC 6704922. PMID 23303943. S2CID 25600245.

[7] Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, et al. (November 1999). "Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus". Nature Genetics. 23 (3): 323–328. doi:10.1038/15500. PMID 10545951. S2CID 3216136.

[8] Guo Z, Zhang L, Wu Z, Chen Y, Wang F, Chen G (February 2014). "In vivo direct reprogramming of reactive glial cells into functional neurons after brain injury and in an Alzheimer's disease model". Cell Stem Cell. 14 (2): 188–202. doi:10.1016/j.stem.2013.12.001. PMC 3967760. PMID 24360883.

[9] Tutukova S, Tarabykin V, Hernandez-Miranda LR (2021). "The Role of Neurod Genes in Brain Development, Function, and Disease". Frontiers in Molecular Neuroscience. 14: 662774. doi:10.3389/fnmol.2021.662774. PMC 8221396. PMID 34177462.

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