NEUROD1
Neurogenic differentiation 1 | |||||||||||
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Identifiers | |||||||||||
Symbols | NEUROD1 ; BETA2; BHF-1; NEUROD | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 1871 | ||||||||||
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RNA expression pattern | |||||||||||
File:PBB GE NEUROD1 206282 at tn.png | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Neurogenic differentiation 1 (NeuroD1), also called β2[1] is a transcription factor of the NeuroD-type. It is encoded by the human gene NEUROD1.
It is 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. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus.[2]
References
Further reading
- Fajans SS, Bell GI, Polonsky KS (2001). "Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young". N. Engl. J. Med. 345 (13): 971–80. PMID 11575290.
- Cho JH, Tsai MJ (2004). "The role of BETA2/NeuroD1 in the development of the nervous system". Mol. Neurobiol. 30 (1): 35–47. PMID 15247487.
- Chae JH, Stein GH, Lee JE (2005). "NeuroD: the predicted and the surprising". Mol. Cells. 18 (3): 271–88. PMID 15650322.
- Tamimi R, Steingrimsson E, Copeland NG; et al. (1996). "The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2". Genomics. 34 (3): 418–21. doi:10.1006/geno.1996.0306. PMID 8786144.
- Yokoyama M, Nishi Y, Miyamoto Y; et al. (1997). "Molecular cloning of a human neuroD from a neuroblastoma cell line specifically expressed in the fetal brain and adult cerebellum". Brain Res. Mol. Brain Res. 42 (1): 135–9. PMID 8915591.
- Yokoyama M, Nishi Y, Yoshii J; et al. (1997). "Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles". DNA Res. 3 (5): 311–20. PMID 9039501.
- Acharya HR, Dooley CM, Thoreson WB, Ahmad I (1997). "cDNA cloning and expression analysis of NeuroD mRNA in human retina". Biochem. Biophys. Res. Commun. 233 (2): 459–63. doi:10.1006/bbrc.1997.6483. PMID 9144558.
- Poulin G, Turgeon B, Drouin J (1997). "NeuroD1/beta2 contributes to cell-specific transcription of the proopiomelanocortin gene". Mol. Cell. Biol. 17 (11): 6673–82. PMID 9343431.
- Furuta H, Horikawa Y, Iwasaki N; et al. (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): 1356–8. PMID 9703340.
- Yoon YS, Noma T, Yamashiro Y; et al. (1998). "Molecular cloning and characterization of the gene encoding human NeuroD". Neurosci. Lett. 251 (1): 17–20. PMID 9714454.
- Miyachi T, Maruyama H, Kitamura T; et al. (1999). "Structure and regulation of the human NeuroD (BETA2/BHF1) gene". Brain Res. Mol. Brain Res. 69 (2): 223–31. PMID 10366743.
- Noma T, Yoon YS, Yamashiro Y; et al. (1999). "Regulation of NeuroD expression by activation of the protein kinase-C pathway in Y79 human retinoblastoma cells". Neurosci. Lett. 272 (1): 45–8. PMID 10507539.
- Malecki MT, Jhala US, Antonellis A; et al. (1999). "Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus". Nat. Genet. 23 (3): 323–8. doi:10.1038/15500. PMID 10545951.
- Glick E, Leshkowitz D, Walker MD (2000). "Transcription factor BETA2 acts cooperatively with E2A and PDX1 to activate the insulin gene promoter". J. Biol. Chem. 275 (3): 2199–204. PMID 10636926.
- Onions J, Hermann S, Grundström T (2000). "A novel type of calmodulin interaction in the inhibition of basic helix-loop-helix transcription factors". Biochemistry. 39 (15): 4366–74. PMID 10757985.
- Mochizuki M, Amemiya S, Kobayashi K; et al. (2002). "The association of Ala45Thr polymorphism in NeuroD with child-onset Type 1a diabetes in Japanese". Diabetes Res. Clin. Pract. 55 (1): 11–7. PMID 11755474.
- Ratineau C, Petry MW, Mutoh H, Leiter AB (2002). "Cyclin D1 represses the basic helix-loop-helix transcription factor, BETA2/NeuroD". J. Biol. Chem. 277 (11): 8847–53. doi:10.1074/jbc.M110747200. PMID 11788592.
- Westerman BA, Poutsma A, Maruyama K; et al. (2002). "The proneural genes NEUROD1 and NEUROD2 are expressed during human trophoblast invasion". Mech. Dev. 113 (1): 85–90. PMID 11900979.
- Kanatsuka A, Tokuyama Y, Nozaki O; et al. (2002). "Beta-cell dysfunction in late-onset diabetic subjects carrying homozygous mutation in transcription factors NeuroD1 and Pax4". Metab. Clin. Exp. 51 (9): 1161–5. PMID 12200761.
External links
- NEUROD1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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