NEUROD1 neuronal differentiation 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEUROD1provided by HGNC
Official Full Name: neuronal differentiation 1provided by HGNC
Primary source: HGNC:HGNC:7762
See related: Ensembl:ENSG00000162992 MIM:601724
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BETA2; BHF-1; MODY6; NEUROD; bHLHa3
Summary: 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]
Expression: Biased expression in stomach (RPKM 3.1), duodenum (RPKM 3.0) and 4 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 2q31.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	2	NC_000002.12 (181668295..181680665, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (182540833..182545392, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Data suggest that the first cases of MODY6 identified in Japan are result of missense (p.L157R, c.470T>G) or frameshift mutations (p.H206PfsTer38, c.616_617insC; p.P245RfsTer17, c.734delC; p.H206TfsTer56, c.616delC) in NEUROD1. The probands and affected family members exhibit intrinsically lower capacity of insulin secretion and neurological disorders. [CASE REPORT]
Title: NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features.
Data suggest the EGR1-miR-30a-5p-NEUROD1 axis might serve as a promising biomarker for diagnosis and treatment monitoring for schizophrenic patients in acute psychotic state. EGR1 and miR-30a-5p were remarkably downregulated, whereas NEUROD1 was significantly upregulated in PBMNCs from patients in acute psychotic state.
Title: The early growth response protein 1-miR-30a-5p-neurogenic differentiation factor 1 axis as a novel biomarker for schizophrenia diagnosis and treatment monitoring.
Mutation in NEUROD1 gene is associated with Maturity Onset Diabetes of the Young.
Title: Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.
the importance of the oligomeric state of CtBP for coactivation of NeuroD1-dependent transcription, was investigated.
Title: Oligomeric form of C-terminal-binding protein coactivates NeuroD1-mediated transcription.
NeuroD1 seemed not sufficient to induce and maintain neuronal differentiation. Induction of neuronal differentiation by overexpression of Neurog1 initiated important steps for the development of glutamatergic neurons such as the spiral ganglion neurons
Title: Induction of neuronal-like phenotype in human mesenchymal stem cells by overexpression of Neurogenin1 and treatment with neurotrophins.
detected c.133A > G (p. Ala45Thr) in children with sensorineural hearing loss
Title: The role of transcription factors of neurosensory cells in non-syndromic sensorineural hearing loss with or without inner ear malformation.
Study reports a family with autosomal dominant diabetes related to a new NEUROD1 mutation, one of very few meeting Maturity Onset Diabetes of the Young criteria.
Title: A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing - Clinical characteristics of mutation carriers.
RNAi of lentiviral vector target NeuroD can reduce the migration and invasion abilities of PANC-1 cells
Title: Effect of NeuroD gene silencing on the migration and invasion of human pancreatic cancer cells PANC-1.
this study concludes that the novel mechanism would regulate the expression of ALK in neuroblastoma and that NeuroD1 should be significantly involved in neuroblastoma tumorigenesis.
Title: NeuroD1 promotes neuroblastoma cell growth by inducing the expression of ALK.
NEUROD1 is important for maintenance of the retina function and partial loss-of-function mutation in NEUROD1 is likely a rare cause of nonsyndromic ARRP.
Title: A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diabetes mellitus type 2 MedGen: C0011860 OMIM: 125853 GeneReviews: Not available	not available
Maturity-onset diabetes of the young, type 6 MedGen: C1853371 OMIM: 606394 GeneReviews: Maturity-Onset Diabetes of the Young Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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Developmental Biology, organism-specific biosystem (from REACTOME)
Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
Dopaminergic Neurogenesis, organism-specific biosystem (from WikiPathways)
Dopaminergic Neurogenesis, organism-specific biosystemConverted to human from mouse: http://www.wikipathways.org/index.php/Pathway:WP1498
Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
Maturity onset diabetes of the young, conserved biosystem (from KEGG)
Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
Regulation of gene expression in beta cells, organism-specific biosystem (from REACTOME)
Regulation of gene expression in beta cells, organism-specific biosystemTwo transcription factors, PDX1 and HNF1A, play key roles in maintaining the gene expression pattern characteristic of mature beta cells in the endocrine pancreas. Targets of these regulatory molecul...
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells, organism-specific biosystem (from REACTOME)
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells, organism-specific biosystemStudies in mouse model systems indicate that the transcription factor neurogenin 3 plays a central role in the induction of endocrine differentiation in the developing pancreas (Servitja and Ferrer 2...
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NEUROD1_221 (e-PCR)
- UniSTS:277529

PMC85623P1 (e-PCR)
- UniSTS:273478

PMC85623P3 (e-PCR)
- UniSTS:273480

Neurod1 (e-PCR), detects polymorphism
- UniSTS:547737

PMC317250P4 (e-PCR)
- UniSTS:273087

RH80773 (e-PCR)
- UniSTS:84714

Homology

Homologs of the NEUROD1 gene: The NEUROD1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 223 organisms have orthologs with human gene NEUROD1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement more info	PubMed
E-box binding	IDA Inferred from Direct Assay more info	PubMed
RNA polymerase II activating transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
contributes_to sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
amacrine cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
cellular response to glucose stimulus	IEA Inferred from Electronic Annotation more info
cerebellum development	ISS Inferred from Sequence or Structural Similarity more info
dentate gyrus development	ISS Inferred from Sequence or Structural Similarity more info
embryonic organ morphogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
endocrine pancreas development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
endocrine pancreas development	TAS Traceable Author Statement more info
enteroendocrine cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
inner ear development	ISS Inferred from Sequence or Structural Similarity more info
insulin secretion	IDA Inferred from Direct Assay more info	PubMed
negative regulation of JAK-STAT cascade	IEA Inferred from Electronic Annotation more info
negative regulation of type B pancreatic cell apoptotic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
neurogenesis	TAS Traceable Author Statement more info	PubMed
neuron development	IEA Inferred from Electronic Annotation more info
nitric oxide mediated signal transduction	IDA Inferred from Direct Assay more info	PubMed
nucleocytoplasmic transport	IEA Inferred from Electronic Annotation more info
pancreatic A cell fate commitment	IEA Inferred from Electronic Annotation more info
pancreatic PP cell fate commitment	IEA Inferred from Electronic Annotation more info
positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription regulatory region DNA binding	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-templated	ISS Inferred from Sequence or Structural Similarity more info
regulation of cell cycle arrest	ISS Inferred from Sequence or Structural Similarity more info
regulation of insulin secretion	IC Inferred by Curator more info	PubMed
regulation of intestinal epithelial structure maintenance	ISS Inferred from Sequence or Structural Similarity more info
response to drug	IEA Inferred from Electronic Annotation more info
response to glucose	IMP Inferred from Mutant Phenotype more info	PubMed
signal transduction involved in regulation of gene expression	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
RNA polymerase II transcription factor complex	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IC Inferred by Curator more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neurogenic differentiation factor 1

Names: basic helix-loop-helix transcription factor; beta-cell E-box transactivator 2; class A basic helix-loop-helix protein 3; neurogenic helix-loop-helix protein NEUROD

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011820.2 RefSeqGene

Range

5000..9559

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002500.4 → NP_002491.2 neurogenic differentiation factor 1

See identical proteins and their annotated locations for NP_002491.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the protein-coding transcript.

Source sequence(s)

AC013733, BC009046

Consensus CDS

CCDS2283.1

UniProtKB/Swiss-Prot

Q13562

Related

ENSP00000295108.3, ENST00000295108.3

Conserved Domains (2) summary

cd00083
Location:100 → 158

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

pfam12533
Location:160 → 284

Neuro_bHLH; Neuronal helix-loop-helix transcription factor

RNA

NR_146175.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate 3'-most exon compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.

Source sequence(s)

AC013733
NR_146176.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate 3'-most exon compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.

Source sequence(s)

AC013733