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Aliases for NEUROD1 Gene

Aliases for NEUROD1 Gene

  • Neuronal Differentiation 1 2 3 5
  • 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

External Ids for NEUROD1 Gene

Previous HGNC Symbols for NEUROD1 Gene

  • NEUROD

Previous GeneCards Identifiers for NEUROD1 Gene

  • GC02M180748
  • GC02M181224
  • GC02M182505
  • GC02M182743
  • GC02M182367
  • GC02M182249
  • GC02M174397

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 Diabetes Mellitus, Noninsulin-Dependent and Maturity-Onset Diabetes Of The Young 6. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neuroscience. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is NEUROD2.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEUROD1 Gene

Genomics for NEUROD1 Gene

Regulatory Elements for NEUROD1 Gene

Enhancers for NEUROD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G181655 1.2 ENCODE dbSUPER 12.4 +24.4 24390 1.9 ZNF133 ZNF76 KLF17 SIN3A FEZF1 BMI1 ZNF2 ZEB1 ZNF121 GLIS2 CERKL NEUROD1 ENSG00000234595 GC02M181678 GC02P181566
GH02G181586 1 ENCODE dbSUPER 10.9 +94.1 94088 0.2 PKNOX1 BMI1 POLR2A RELB IKZF2 CHD2 MTA2 NR2F1 BHLHE40 TRIM22 NEUROD1 CERKL ENSG00000234595 GC02P181566 GC02M181678
GH02G181916 0.9 ENCODE dbSUPER 10.1 -236.2 -236175 1.9 BCOR ZNF146 ZMYM3 CEBPB DPF2 TCF12 ARID1B NCOR1 HDAC2 ATF3 ENSG00000234595 CERKL NEUROD1 SSFA2 PPP1R1C
GH02G181104 0.9 Ensembl ENCODE 10.1 +576.1 576059 0.4 CTCF ZNF654 FOXA2 FOXA3 HLF TRIM22 RAD21 FOXK2 ZNF366 TARDBP ITGA4 CERKL ENSG00000234595 NEUROD1 UBE2E3 LINC01934 ENSG00000238171
GH02G181715 0.7 ENCODE 12.5 -34.4 -34363 0.2 ELF3 CTCF ZNF654 TRIM22 MAX REST RAD21 YY1 KAT8 SMARCA4 ENSG00000234595 NEUROD1 CERKL RNU6ATAC19P GC02P181739 SAP18P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NEUROD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NEUROD1 Gene

Chromosome:
2
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

Genes around NEUROD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEUROD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEUROD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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. Interacts with ATOH8 (By similarity).

neXtProt entry for NEUROD1 Gene

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:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NEUROD1 (NEUROD1)
  • Abcam antibodies for NEUROD1

No data available for DME Specific Peptides for NEUROD1 Gene

Domains & Families for NEUROD1 Gene

Gene Families for NEUROD1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for NEUROD1 Gene

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).

LifeMap Function Summary for NEUROD1 Gene

NEUROD1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

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 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding 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 IEA --
genes like me logo Genes that share ontologies with NEUROD1: view
genes like me logo Genes that share phenotypes with NEUROD1: view

Human Phenotype Ontology for NEUROD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEUROD1 Gene

MGI Knock Outs for NEUROD1:

Animal Model Products

CRISPR Products

Targeted motifs for NEUROD1 Gene
HOMER Transcription Factor Regulatory Elements motif NEUROD1
  • Consensus sequence: GCCATCTGTT Submotif: canonical Cell Type: Islet GEO ID: GSE30298

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEUROD1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2
plasma membrane 1
extracellular 1

Gene Ontology (GO) - Cellular Components for NEUROD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IC,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 & Interactions 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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with NEUROD1: view

No data available for SIGNOR curated interactions for NEUROD1 Gene

Drugs & Compounds for NEUROD1 Gene

(4) Drugs for NEUROD1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Repaglinide Approved, Investigational Pharma Kir6 (KATP) channel blocker 51

(1) Additional Compounds for NEUROD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x26.6) and Brain - Cerebellum (x20.8).

NURSA nuclear receptor signaling pathways regulating expression of NEUROD1 Gene:

NEUROD1

SOURCE GeneReport for Unigene cluster for NEUROD1 Gene:

Hs.709709

Evidence on tissue expression from TISSUES for NEUROD1 Gene

  • Eye(4.8)
  • Nervous system(4.8)
  • Pancreas(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NEUROD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • reproductive
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • heart
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • penis
  • placenta
  • uterus
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with NEUROD1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NEUROD1 Gene

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 34 35
  • 99.25 (n)
oppossum
(Monodelphis domestica)
Mammalia NEUROD1 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NEUROD1 34 35
  • 93.54 (n)
mouse
(Mus musculus)
Mammalia Neurod1 34 16 35
  • 91.1 (n)
rat
(Rattus norvegicus)
Mammalia Neurod1 34
  • 90.73 (n)
dog
(Canis familiaris)
Mammalia NEUROD1 34
  • 87.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NEUROD1 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves NEUROD1 34 35
  • 78.63 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia neurod1 34
  • 75.12 (n)
Str.12084 34
African clawed frog
(Xenopus laevis)
Amphibia neurod1-A 34
zebrafish
(Danio rerio)
Actinopterygii neurod 34 35
  • 72.21 (n)
worm
(Caenorhabditis elegans)
Secernentea cnd-1 35
  • 38 (a)
ManyToMany
ngn-1 35
  • 37 (a)
ManyToMany
Species where no ortholog for NEUROD1 was found in the sources mined by GeneCards:
  • 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

(3) 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
rs104893649 Pathogenic, Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] 181,678,529(-) GGAGC(G/T)GAACC reference, missense
rs763092306 Maturity-onset diabetes of the young 6 (MODY6) [MIM:606394] 181,678,533(+) CCGCT(C/T)CCGGG reference, missense
VAR_076552 Maturity-onset diabetes of the young 6 (MODY6) [MIM:606394]
rs149703259 Pathogenic 181,678,552(+) TTCAT(C/G/T)CGTCT reference, synonymous-codon
rs387906384 Pathogenic 181,678,244(-) CCCCC(-/C)ACCTG reference, frameshift-variant

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

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

Variation tolerance for NEUROD1 Gene

Residual Variation Intolerance Score: 77.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NEUROD1 Gene

Human Gene Mutation Database (HGMD)
NEUROD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NEUROD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEUROD1 Gene

Disorders for NEUROD1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for NEUROD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, noninsulin-dependent
  • diabetes, type 2
maturity-onset diabetes of the young 6
  • maturity-onset diabetes of the young type 6
maturity-onset diabetes of the young
  • mason-type diabetes
diabetes mellitus, insulin-dependent, 7
  • type 1 diabetes mellitus 7
pulmonary neuroendocrine tumor
  • neuroendocrine neoplasm of lung
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDF1_HUMAN
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:10545951}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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, ECO:0000269 PubMed:11719843, ECO:0000269 PubMed:26773576}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NEUROD1

Genetic Association Database (GAD)
NEUROD1
Human Genome Epidemiology (HuGE) Navigator
NEUROD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NEUROD1
genes like me logo Genes that share disorders with NEUROD1: view

No data available for Genatlas for NEUROD1 Gene

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 22 46 64
  2. Retinopathy and nephropathy in type 1 diabetic patients--association with polymorphysms of vitamin D-receptor, TNF, Neuro-D and IL-1 receptor 1 genes. (PMID: 20120526) BuA8an K. … Znaor L. (Coll Antropol 2009) 3 22 46 64
  3. NeuroD1 gene and interleukin-18 gene polymorphisms in type 1 diabetes in Dalmatian population of Southern Croatia. (PMID: 16909454) Boraska V. … Zemunik T. (Croat. Med. J. 2006) 3 22 46 64
  4. Ala45Thr variation in neuroD1 gene is associated with early-onset type 2 diabetes with or without diabetic pedigree in Chinese. (PMID: 16773428) Liu L. … Xiang K. (Mol. Cell. Biochem. 2006) 3 22 46 64
  5. Ala45Thr polymorphism of the NEUROD1 gene and diabetes susceptibility: a meta-analysis. (PMID: 15592940) Kavvoura F.K. … Ioannidis J.P. (Hum. Genet. 2005) 3 22 46 64

Products for NEUROD1 Gene

Sources for NEUROD1 Gene

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