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NEUROD1 neuronal differentiation 1 [ Homo sapiens (human) ]

Gene ID: 4760, updated on 8-Jul-2021

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
T2D; 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
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Genomic context

See NEUROD1 in Genome Data Viewer
Location:
2q31.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (181668295..181680517, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (182533022..182545244, 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CERKL

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables chromatin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
enables 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 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in amacrine cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebellum development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in dentate gyrus development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic organ morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in endocrine pancreas development ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in enteroendocrine cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in inner ear development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in insulin secretion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of receptor signaling pathway via JAK-STAT IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of type B pancreatic cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in neurogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in neuron development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nitric oxide mediated signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nucleocytoplasmic transport IEA
Inferred from Electronic Annotation
more info
 
involved_in pancreatic A cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in pancreatic PP cell fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of insulin secretion IC
Inferred by Curator
more info
PubMed 
involved_in regulation of intestinal epithelial structure maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to drug IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucose IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IC
Inferred by Curator
more info
PubMed 
located_in 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)

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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

  1. NG_011820.3 RefSeqGene

    Range
    5001..9051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1119

mRNA and Protein(s)

  1. NM_002500.5NP_002491.3  neurogenic differentiation factor 1

    Status: REVIEWED

    Source sequence(s)
    AC013733, BC009046
    Consensus CDS
    CCDS2283.1
    Related
    ENSP00000295108.3, ENST00000295108.4
    Conserved Domains (2) summary
    cd19719
    Location:75160
    bHLH_TS_NeuroD1; basic helix-loop-helix (bHLH) domain found in neurogenic differentiation factor 1 (NeuroD1) and similar proteins
    pfam12533
    Location:160284
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor

RNA

  1. NR_146175.2 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_146176.2 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
    Related
    ENST00000683166.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    181668295..181680517 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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