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NEUROD1 neuronal differentiation 1 [ Homo sapiens (human) ]

Gene ID: 4760, updated on 6-Sep-2017
Official Symbol
NEUROD1provided by HGNC
Official Full Name
neuronal differentiation 1provided by HGNC
Primary source
HGNC:HGNC:7762
See related
Ensembl:ENSG00000162992 MIM:601724; Vega:OTTHUMG00000132583
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]
Orthologs
Location:
2q31.3
Exon count:
2
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (181676106..181680665, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (182540833..182545392, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1934 Neighboring gene microRNA 4437 Neighboring gene integrin subunit alpha 4 Neighboring gene ceramide kinase like Neighboring gene RNA, U6atac small nuclear 19, pseudogene Neighboring gene SAP18 pseudogene 2

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: CERKL

Homology

Gene Ontology Provided by GOA

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 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 sequence-specific DNA binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter 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
 
transcription from RNA polymerase II promoter 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 
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

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

  1. NG_011820.2 RefSeqGene

    Range
    5000..9559
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002500.4NP_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, OTTHUMP00000163404, ENST00000295108.3, OTTHUMT00000255792
    Conserved Domains (2) summary
    cd00083
    Location:100158
    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:160284
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor

RNA

  1. 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
  2. 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

    Range
    181676106..181680665 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    182546618..182551246 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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