NEUROD1

From Wikipedia, the free encyclopedia

Neurogenic differentiation 1

Identifiers

NEUROD1; BETA2; BHF-1; NEUROD

External IDs

OMIM: 601724 MGI: 1339708 HomoloGene: 1871

Gene ontology
Molecular Function:	• DNA binding • RNA polymerase II transcription factor activity • protein binding • transcription activator activity
Cellular Component:	• nucleus
Biological Process:	• regulation of transcription, DNA-dependent • multicellular organismal development • nervous system development • anterior/posterior pattern formation • hindbrain development • cell fate commitment • positive regulation of transcription from RNA polymerase II promoter

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002500 (mRNA)
NP_002491 (protein)

NM_010894 (mRNA)
NP_035024 (protein)

Location

Chr 2: 182.25 - 182.25 Mb

Chr 2: 79.25 - 79.26 Mb

Pubmed search

[1]

[2]

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]

[edit] References

[edit] 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.

[edit] External links

MeSH NEUROD1+protein,+human

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v • d • e

Transcription factors and intracellular receptors

(1) Basic domains

(1.1) Basic leucine zipper (bZIP)	Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) • AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) • BACH (1, 2) • BATF • BLZF1 • C/EBP (α, β, γ, δ, ε, ζ) • CREB (1, 3, L1) • CREM • DBP • DDIT3 • GABPA • HLF • MAF (B, F, G, K) • NFE (2, L1, L2) • NRL • NRF1 • XBP1

(1.2) Basic helix-loop-helix (bHLH)	ATOH1 • AhR • AHRR • ARNT • ASCL1 • BHLHB2 • BMAL (ARNTL, ARNTL2) • CLOCK • EPAS1 • HAND (1, 2) • HES (5, 6) • HEY (1, 2, L) • HES1 • HIF (1A, 3A) • ID (1, 2, 3, 4) • LYL1 • MXD4 • MYCL1 • MYCN • Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) • Neurogenins • NeuroD (1, 2) • NPAS (1, 2, 3) • OLIG (1, 2) • Scleraxis • TAL1 • Twist • USF1

(1.3) bHLH-ZIP	MAX • MITF • MNT • MLX • MXI1 • Myc • SREBP (1, 2)

(1.6) Basic helix-span-helix (bHSH)	AP-2

(2) Zinc finger
DNA-binding domains

(2.1) Nuclear receptor (Cys₄)	subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) • subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) • subfamily 3 (Steroid hormone (Estrogen (α, β), Estrogen related (α, β, γ), Androgen, Glucocorticoid, Mineralocorticoid, Progesterone)) • subfamily 4 NUR (NGFIB, NOR1, NURR1) • subfamily 5 (LRH-1, SF1) • subfamily 6 (GCNF) • subfamily 0 (DAX1, SHP)

(2.2) Other Cys₄	GATA (1, 2, 3, 4, 5, 6) • MTA (1, 2, 3)

(2.3) Cys₂His₂	ATBF1 • BCL(6, 11A, 11B) • CTCF • E4F1 • EGR (2, 3) • ERV3 • General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF: 1, 2, TFIIH: 1, 2, 4, 2I, 3A, 3C1, 3C2) • GFI1 • GLI-Krüppel family (1, 2, 3, YY1) • HIC (1, 2) • HIVEP (1, 2, 3) • IKZF (1, 2, 3) • ILF (2, 3) • KLF (2, 4, 5, 6, 9, 10, 11, 12, 13) • MTF1 • MYT1 • OSR1 • Sp1 • zinc finger ((3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 451, 452, 471, 593, 638, 649, 655) • Zbtb7 (7A) • ZBT (16, 17, 33)

(2.4) Cys₆	HIVEP1

(2.5) Alternating composition	AIRE • DIDO1 • GRLF1 • ING (1, 2, 4) • JARID (1A, 1B, 1C, 1D, 2) • JMJD1B

(3) Helix-turn-helix
domains

(3.1) Homeo domain	ARX • CDX (1, 2) • CRX • CUTL1 • DLX (3, 4, 5) • EMX2 • EN (1, 2) • FHL (1, 2, 3) • HESX1 • HHEX • HLX • Homeobox (A1, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) • HOPX • MEIS (1, 2) • MEOX2 • MNX1 • MSX (1, 2) • NANOG • NKX (2-1, 2-5, 3-1) • PHF (3, 6, 10, 17) • POU domain (PIT-1, BRN-3: 1, 2, Octamer transcription factor: 1, 2, 3/4, 6, 7) • OTX (1, 2) • PDX1

(3.2) Paired box	PAX (1, 2, 3, 4, 5, 6, 7, 8, 9)

(3.3) Fork head / winged helix	E2F (1, 2, 3, 4, 5) • FOX proteins (C1, C2, E1, G1, H1, K2, L2, M1, N3, O1A, , O3A, O4, P1, P2, P3)

(3.4) Heat Shock Factors	HSF (1, 2, 4)

(3.5) Tryptophan clusters	ELF (4, 5) • EGF • ELK (1, 3, 4) • ERF • ERG • ETS (1, 2) • ETV (1, 4, 5, 6) • FLI1 • Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) • MYB • MYBL2

(3.6) TEA domain	transcriptional enhancer factor 1, 2

(4) β-Scaffold factors with
minor groove contacts

(4.1) Rel homology region	NF-κB (NFKB1, NFKB2, REL, RELA, RELB) • NFAT (C1, C2, C3, C4, 5)

(4.2) STAT	STAT (1, 2, 3, 4, 5, 6)

(4.3) p53	p53

(4.4) MADS box	Mef2 (A, B, C, D) • SRF

(4.7) High mobility group	HNF (1A, 1B) • LEF1 • SOX (2, 3, 4, 5, 6, 8, 9, 10, 11, 13, 15, 18) • SRY • SSRP1

(4.10) Cold-shock domain	CSDA, YBX1

(4.11) Runt	CBF (CBFA2T2, CBFA2T3, RUNX1, RUNX2, RUNX3, RUNX1T1)

(0) Other
transcription factors

(0.2) HMGI(Y)	HMGA (1, 2) • HBP1

(0.3) Pocket domain	Rb • RBL1 • RBL2

(0.5) AP-2/EREBP-related factors	Apetala 2 • EREBP • B3

(0.6) Miscellaneous	ARID (1A, 1B, 2, 3A, 3B, 4A) • CAP • IFI (16, 35) • MLL (2, 3, T1) • MNDA • NFI (A, B, C, X) • NFY (A, B, C) • Rho/Sigma • R-SMAD