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) Band 2q31.3 Start 181,668,295 bp End 181,680,827 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2 C3|2 47.58 cM Start 79,282,865 bp End 79,287,095 bp
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 4760 18012 Ensembl ENSG00000162992 ENSMUSG00000034701 UniProt Q13562 Q60867 RefSeq (mRNA) NM_002500 NM_010894 RefSeq (protein) NP_002491 NP_035024 Location (UCSC) Chr 2: 181.67 – 181.68 Mb Chr 2: 79.28 – 79.29 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Neurogenic differentiation 1 (Neurod1), also called β2, 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).

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.

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

Interactions

Neurod1 has been shown to interact with MAP3K10, MAFA and Cyclin D1.

Further reading

• Fajans SS, Bell GI, Polonsky KS (September 2001). "Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young". The New England Journal of Medicine. 345 (13): 971–980. doi:10.1056/NEJMra002168. PMID 11575290.
• Cho JH, Tsai MJ (August 2004). "The role of BETA2/NeuroD1 in the development of the nervous system". Molecular Neurobiology. 30 (1): 35–47. doi:10.1385/MN:30:1:035. PMID 15247487. S2CID 19923393.
• Chae JH, Stein GH, Lee JE (December 2004). "NeuroD: the predicted and the surprising". Molecules and Cells. 18 (3): 271–288. doi:10.1016/S1016-8478(23)13113-X. PMID 15650322.
• Tamimi R, Steingrimsson E, Copeland NG, Dyer-Montgomery K, Lee JE, Hernandez R, et al. (June 1996). "The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2". Genomics. 34 (3): 418–421. doi:10.1006/geno.1996.0306. PMID 8786144.
• Yokoyama M, Nishi Y, Miyamoto Y, Nakamura M, Akiyama K, Matsubara K, et al. (November 1996). "Molecular cloning of a human neuroD from a neuroblastoma cell line specifically expressed in the fetal brain and adult cerebellum". Brain Research. Molecular Brain Research. 42 (1): 135–139. doi:10.1016/S0169-328X(96)00154-4. PMID 8915591.
• Yokoyama M, Nishi Y, Yoshii J, Okubo K, Matsubara K (October 1996). "Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles". DNA Research. 3 (5): 311–320. doi:10.1093/dnares/3.5.311. PMID 9039501.
• Acharya HR, Dooley CM, Thoreson WB, Ahmad I (April 1997). "cDNA cloning and expression analysis of NeuroD mRNA in human retina". Biochemical and Biophysical Research Communications. 233 (2): 459–463. doi:10.1006/bbrc.1997.6483. PMID 9144558.
• 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.
• Furuta H, Horikawa Y, Iwasaki N, Hara M, Sussel L, Le Beau MM, et al. (August 1998). "Beta-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese". Diabetes. 47 (8): 1356–1358. doi:10.2337/diabetes.47.8.1356. PMID 9703340.
• Yoon YS, Noma T, Yamashiro Y, Ito H, Nakazawa A (July 1998). "Molecular cloning and characterization of the gene encoding human NeuroD". Neuroscience Letters. 251 (1): 17–20. doi:10.1016/S0304-3940(98)00490-X. PMID 9714454. S2CID 39872130.
• Miyachi T, Maruyama H, Kitamura T, Nakamura S, Kawakami H (June 1999). "Structure and regulation of the human NeuroD (BETA2/BHF1) gene". Brain Research. Molecular Brain Research. 69 (2): 223–231. doi:10.1016/S0169-328X(99)00112-6. PMID 10366743.
• Noma T, Yoon YS, Yamashiro Y, Fujisawa K, Nakazawa A (September 1999). "Regulation of NeuroD expression by activation of the protein kinase-C pathway in Y79 human retinoblastoma cells". Neuroscience Letters. 272 (1): 45–48. doi:10.1016/S0304-3940(99)00569-8. PMID 10507539. S2CID 3158332.
• 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.
• Glick E, Leshkowitz D, Walker MD (January 2000). "Transcription factor BETA2 acts cooperatively with E2A and PDX1 to activate the insulin gene promoter". The Journal of Biological Chemistry. 275 (3): 2199–2204. doi:10.1074/jbc.275.3.2199. PMID 10636926.
• Onions J, Hermann S, Grundström T (April 2000). "A novel type of calmodulin interaction in the inhibition of basic helix-loop-helix transcription factors". Biochemistry. 39 (15): 4366–4374. doi:10.1021/bi992533u. PMID 10757985.
• Mochizuki M, Amemiya S, Kobayashi K, Kobayashi K, Ishihara T, Aya M, et al. (January 2002). "The association of Ala45Thr polymorphism in NeuroD with child-onset Type 1a diabetes in Japanese". Diabetes Research and Clinical Practice. 55 (1): 11–17. doi:10.1016/S0168-8227(01)00242-X. PMID 11755474.
• Ratineau C, Petry MW, Mutoh H, Leiter AB (March 2002). "Cyclin D1 represses the basic helix-loop-helix transcription factor, BETA2/NeuroD". The Journal of Biological Chemistry. 277 (11): 8847–8853. doi:10.1074/jbc.M110747200. PMID 11788592.
• Westerman BA, Poutsma A, Maruyama K, Schrijnemakers HF, van Wijk IJ, Oudejans CB (April 2002). "The proneural genes NEUROD1 and NEUROD2 are expressed during human trophoblast invasion". Mechanisms of Development. 113 (1): 85–90. doi:10.1016/S0925-4773(01)00665-7. PMID 11900979. S2CID 11607202.
• Kanatsuka A, Tokuyama Y, Nozaki O, Matsui K, Egashira T (September 2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4". Metabolism. 51 (9): 1161–1165. doi:10.1053/meta.2002.34707. PMID 12200761.

External links

• NEUROD1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.