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Aliases for NEUROD1 Gene

Aliases for NEUROD1 Gene

  • Neuronal Differentiation 1 2 3
  • Neurogenic Helix-Loop-Helix Protein NEUROD 2 3
  • Class A Basic Helix-Loop-Helix Protein 3 3 4
  • Beta-Cell E-Box Transactivator 2 2 3
  • NEUROD 3 4
  • BHLHa3 3 4
  • Basic Helix-Loop-Helix Transcription Factor 3
  • Neurogenic Differentiation Factor 1 3
  • Neurogenic Differentiation 1 2
  • NeuroD1 4
  • BETA2 3
  • BHF-1 3
  • MODY6 3
  • NIDDM 6

External Ids for NEUROD1 Gene

Previous Symbols for NEUROD1 Gene

  • NEUROD

Summaries for NEUROD1 Gene

Entrez Gene Summary for NEUROD1 Gene

  • 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. It regulates expression of the insulin gene, and mutations in this gene result in type II diabetes mellitus. [provided by RefSeq, Jul 2008]

GeneCards Summary for NEUROD1 Gene

NEUROD1 (Neuronal Differentiation 1) is a Protein Coding gene. Diseases associated with NEUROD1 include maturity-onset diabetes of the young 6 and maturity-onset diabetes of the young. Among its related pathways are L1CAM interactions and Regulation of beta-cell development. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is BHLHA15.

UniProtKB/Swiss-Prot for NEUROD1 Gene

  • Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5-CANNTG-3. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).

Gene Wiki entry for NEUROD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEUROD1 Gene

Genomics for NEUROD1 Gene

Genomic Location for NEUROD1 Gene

Start:
181,673,088 bp from pter
End:
181,680,876 bp from pter
Size:
7,789 bases
Orientation:
Minus strand

Genomic View for NEUROD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NEUROD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEUROD1 Gene

Regulatory Elements for NEUROD1 Gene

Proteins for NEUROD1 Gene

  • Protein details for NEUROD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13562-NDF1_HUMAN
    Recommended name:
    Neurogenic differentiation factor 1
    Protein Accession:
    Q13562
    Secondary Accessions:
    • B2R9I8
    • F1T0E1
    • O00343
    • Q13340
    • Q5U095
    • Q96TH0
    • Q99455
    • Q9UEC8

    Protein attributes for NEUROD1 Gene

    Size:
    356 amino acids
    Molecular mass:
    39920 Da
    Quaternary structure:
    • Interacts (via helix-loop-helix motif domain) with EP300 (via C-terminus) (By similarity). Heterodimer with TCF3/E47; the heterodimer is inhibited in presence of ID2, but not NR0B2, to E-box element. Efficient DNA-binding requires dimerization with another bHLH protein. Interacts with RREB1. Interacts with EP300; the interaction is inhibited by NR0B2. Interacts with TCF3; the interaction is inhibited by ID2.

neXtProt entry for NEUROD1 Gene

Proteomics data for NEUROD1 Gene at MOPED

Post-translational modifications for NEUROD1 Gene

  • Phosphorylated. In islet cells, phosphorylated on Ser-274 upon glucose stimulation; which may be required for nuclear localization. In activated neurons, phosphorylated on Ser-335; which promotes dendritic growth. Phosphorylated by MAPK1; phosphorylation regulates heterodimerization and DNA-binding activities. Phosphorylation on Ser-266 and Ser-274 increases transactivation on the insulin promoter in glucose-stimulated insulinoma cells (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NEUROD1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NEUROD1 Gene

Domains for NEUROD1 Gene

Gene Families for NEUROD1 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for NEUROD1 Gene

UniProtKB/Swiss-Prot:

NDF1_HUMAN
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.:
    • Q13562
genes like me logo Genes that share domains with NEUROD1: view

Function for NEUROD1 Gene

Molecular function for NEUROD1 Gene

GENATLAS Biochemistry: neurogenesis regulator D1,identical to hamster beta2 gene,expressed in pancreatic beta cells,regulating sequence and granule cells in the cerebellum and hippocampus,and involved in their differentiation
UniProtKB/Swiss-Prot Function: Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5-CANNTG-3. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory neurons, granule cells forming either the cerebellum or the dentate gyrus cell layer of the hippocampus, endocrine islet cells of the pancreas and enteroendocrine cells of the small intestine. Together with PAX6 or SIX3, is required for the regulation of amacrine cell fate specification. Also required for dendrite morphogenesis and maintenance in the cerebellar cortex. Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).

Gene Ontology (GO) - Molecular Function for NEUROD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0001102 RNA polymerase II activating transcription factor binding IPI 19619559
GO:0001105 RNA polymerase II transcription coactivator activity IDA 19619559
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with NEUROD1: view
genes like me logo Genes that share phenotypes with NEUROD1: view

Animal Models for NEUROD1 Gene

MGI Knock Outs for NEUROD1:

miRNA for NEUROD1 Gene

miRTarBase miRNAs that target NEUROD1
Targeting motifs for NEUROD1 Gene
HOMER Transcription Factor Regulatory Elements motif NEUROD1
  • Consensus sequence: GCCATCTGTT Submotif: canonical Cell Type: Islet GeoId: GSE30298

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for NEUROD1 Gene

Localization for NEUROD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEUROD1 Gene

Cytoplasm. Nucleus. Note=In pancreatic islet cells, shuttles to the nucleus in response to glucose stimulation (By similarity). Colocalizes with NR0B2 in the nucleus. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NEUROD1 Gene COMPARTMENTS Subcellular localization image for NEUROD1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NEUROD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus IDA 14752053
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0090575 RNA polymerase II transcription factor complex IDA 10545951
genes like me logo Genes that share ontologies with NEUROD1: view

Pathways for NEUROD1 Gene

genes like me logo Genes that share pathways with NEUROD1: view

Gene Ontology (GO) - Biological Process for NEUROD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003326 pancreatic A cell fate commitment IEA --
GO:0003329 pancreatic PP cell fate commitment IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006913 nucleocytoplasmic transport IEA --
GO:0007263 nitric oxide mediated signal transduction IDA 17941991
genes like me logo Genes that share ontologies with NEUROD1: view

Compounds for NEUROD1 Gene

(4) Novoseek inferred chemical compound relationships for NEUROD1 Gene

Compound -log(P) Hits PubMed IDs
glucose 26.3 13
retinoic acid 23.2 4
calcium 0 1
corticosterone 0 1

(1) PharmGKB related drug/compound annotations for NEUROD1 Gene

Drug/compound Annotation
repaglinide CA
genes like me logo Genes that share compounds with NEUROD1: view

Transcripts for NEUROD1 Gene

mRNA/cDNA for NEUROD1 Gene

Unigene Clusters for NEUROD1 Gene

Neuronal differentiation 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NEUROD1 Gene

No ASD Table

Relevant External Links for NEUROD1 Gene

GeneLoc Exon Structure for
NEUROD1
ECgene alternative splicing isoforms for
NEUROD1

Expression for NEUROD1 Gene

mRNA expression in normal human tissues for NEUROD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEUROD1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (26.6) and Brain - Cerebellum (20.8).

SOURCE GeneReport for Unigene cluster for NEUROD1 Gene Hs.709709

genes like me logo Genes that share expressions with NEUROD1: view

Orthologs for NEUROD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NEUROD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEUROD1 36
  • 99.25 (n)
  • 100 (a)
NEUROD1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NEUROD1 36
  • 93.54 (n)
  • 98.03 (a)
NEUROD1 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NEUROD1 36
  • 87.73 (n)
  • 93.52 (a)
mouse
(Mus musculus)
Mammalia Neurod1 36
  • 91.1 (n)
  • 98.03 (a)
Neurod1 16
Neurod1 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NEUROD1 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NEUROD1 37
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Neurod1 36
  • 90.73 (n)
  • 98.31 (a)
chicken
(Gallus gallus)
Aves NEUROD1 36
  • 78.63 (n)
  • 78.53 (a)
NEUROD1 37
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia neurod1-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia neurod1 36
  • 75.12 (n)
  • 81.48 (a)
Str.12084 36
zebrafish
(Danio rerio)
Actinopterygii neurod 36
  • 72.21 (n)
  • 77.08 (a)
neurod 37
  • 76 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cnd-1 37
  • 38 (a)
ManyToMany
ngn-1 37
  • 37 (a)
ManyToMany
Species with no ortholog for NEUROD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NEUROD1 Gene

ENSEMBL:
Gene Tree for NEUROD1 (if available)
TreeFam:
Gene Tree for NEUROD1 (if available)

Paralogs for NEUROD1 Gene

Selected SIMAP similar genes for NEUROD1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NEUROD1: view

Variants for NEUROD1 Gene

Sequence variations from dbSNP and Humsavar for NEUROD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1372121 -- 181,677,241(+) aatta(A/G)atata utr-variant-3-prime
rs1372122 -- 181,677,455(+) GCATA(A/G)ATCCT utr-variant-3-prime
rs1372123 -- 181,677,473(+) GCTTG(G/T)GATTT utr-variant-3-prime
rs2516846 -- 181,679,585(-) TGCAG(C/G)TAGCG intron-variant
rs2583016 -- 181,680,491(-) GAGGC(A/G)CGGCG utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for NEUROD1 Gene

Variant ID Type Subtype PubMed ID
nsv834477 CNV Gain 17160897
nsv820203 CNV Gain 19587683

Relevant External Links for NEUROD1 Gene

HapMap Linkage Disequilibrium report
NEUROD1
Human Gene Mutation Database (HGMD)
NEUROD1

Disorders for NEUROD1 Gene

(2) OMIM Diseases for NEUROD1 Gene (601724)

UniProtKB/Swiss-Prot

NDF1_HUMAN
  • Maturity-onset diabetes of the young 6 (MODY6) [MIM:606394]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:10545951}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for NEUROD1 Gene

(7) Novoseek inferred disease relationships for NEUROD1 Gene

Disease -log(P) Hits PubMed IDs
pituitary adenoma 37.8 1
hyperglycemia 37.5 1
niddm 36.2 1
diabetes mellitus insulin-dependent 29.4 2
small cell lung cancer 14.9 1

Relevant External Links for NEUROD1

Genetic Association Database (GAD)
NEUROD1
Human Genome Epidemiology (HuGE) Navigator
NEUROD1
genes like me logo Genes that share disorders with NEUROD1: view

Publications for NEUROD1 Gene

  1. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. (PMID: 10545951) Malecki M.T. … Krolewski A.S. (Nat. Genet. 1999) 3 4 23 49
  2. cDNA cloning and expression analysis of NeuroD mRNA in human retina. (PMID: 9144558) Acharya H.R. … Ahmad I. (Biochem. Biophys. Res. Commun. 1997) 3 4 23
  3. The association of Ala45Thr polymorphism in NeuroD with child-onset Type 1a diabetes in Japanese. (PMID: 11755474) Mochizuki M. … Nakazawa S. (Diabetes Res. Clin. Pract. 2002) 3 23 49
  4. [Association of polymorphism in neurogenic differentiation factor 1 gene with type 2 diabetes]. (PMID: 12476420) Ye L. … Zhang J. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2002) 3 23 49
  5. Novel transcriptional potentiation of BETA2/NeuroD on the secretin gene promoter by the DNA-binding protein Finb/RREB-1. (PMID: 12482979) Ray S.K. … Leiter A.B. (Mol. Cell. Biol. 2003) 3 4 23

Products for NEUROD1 Gene

Sources for NEUROD1 Gene

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