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    NEUROD1 neuronal differentiation 1 [ Homo sapiens (human) ]

    Gene ID: 4760, updated on 2-Oct-2018

    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; 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]
    Expression
    Biased expression in stomach (RPKM 3.1), duodenum (RPKM 3.0) and 4 other tissues See more
    Orthologs

    Genomic context

    See NEUROD1 in Genome Data Viewer
    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_000002.12Genomic 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

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 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

    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)

    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 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      181668295..181680665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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