Human Gene NEUROG1 (ENST00000314744.6_6) from GENCODE V47lift37
  Description: neurogenin 1 (from RefSeq NM_006161.3)
Gencode Transcript: ENST00000314744.6_6
Gencode Gene: ENSG00000181965.6_8
Transcript (Including UTRs)
   Position: hg19 chr5:134,869,972-134,871,654 Size: 1,683 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chr5:134,870,667-134,871,380 Size: 714 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:134,869,972-134,871,654)mRNA (may differ from genome)Protein (237 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NGN1_HUMAN
DESCRIPTION: RecName: Full=Neurogenin-1; Short=NGN-1; AltName: Full=Class A basic helix-loop-helix protein 6; Short=bHLHa6; AltName: Full=Neurogenic basic-helix-loop-helix protein; AltName: Full=Neurogenic differentiation factor 3; Short=NeuroD3;
FUNCTION: Acts as a transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Associates with chromatin to enhancer regulatory elements in genes encoding key transcriptional regulators of neurogenesis (By similarity).
SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein.
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Expression restricted to the embryonic nervous system.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NEUROG1
Diseases sorted by gene-association score: deafness, autosomal dominant 52 (10), cerebellar liponeurocytoma (9), moebius syndrome (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.09 RPKM in Testis
Total median expression: 0.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -98.70274-0.360 Picture PostScript Text
3' UTR -199.90695-0.288 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q92886
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0000989 transcription factor activity, transcription factor binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0046983 protein dimerization activity
GO:0070888 E-box binding
GO:1990837 sequence-specific double-stranded DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007356 thorax and anterior abdomen determination
GO:0007399 nervous system development
GO:0021559 trigeminal nerve development
GO:0021650 vestibulocochlear nerve formation
GO:0022008 neurogenesis
GO:0030154 cell differentiation
GO:0030182 neuron differentiation
GO:0030432 peristalsis
GO:0031223 auditory behavior
GO:0031536 positive regulation of exit from mitosis
GO:0035112 genitalia morphogenesis
GO:0042472 inner ear morphogenesis
GO:0045165 cell fate commitment
GO:0045664 regulation of neuron differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048634 regulation of muscle organ development
GO:0048806 genitalia development
GO:0048839 inner ear development
GO:0050885 neuromuscular process controlling balance
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0071626 mastication
GO:0090102 cochlea development
GO:0090103 cochlea morphogenesis
GO:0097094 craniofacial suture morphogenesis
GO:0098583 learned vocalization behavior
GO:1901078 negative regulation of relaxation of muscle
GO:1905747 negative regulation of saliva secretion
GO:1905748 hard palate morphogenesis

Cellular Component:
GO:0005634 nucleus
GO:0043025 neuronal cell body
GO:0043204 perikaryon


-  Descriptions from all associated GenBank mRNAs
  LF212535 - JP 2014500723-A/20038: Polycomb-Associated Non-Coding RNAs.
BC028226 - Homo sapiens neurogenin 1, mRNA (cDNA clone MGC:40048 IMAGE:5241507), complete cds.
JD103360 - Sequence 84384 from Patent EP1572962.
AB593107 - Homo sapiens NEUROG1 mRNA for neurogenin-1, complete cds, clone: HP06849-RBd04F09.
BC008687 - Homo sapiens neurogenin 1, mRNA (cDNA clone MGC:9390 IMAGE:3872172), complete cds.
JD054581 - Sequence 35605 from Patent EP1572962.
JD059230 - Sequence 40254 from Patent EP1572962.
JD507208 - Sequence 488232 from Patent EP1572962.
JD106351 - Sequence 87375 from Patent EP1572962.
JD149658 - Sequence 130682 from Patent EP1572962.
JD368325 - Sequence 349349 from Patent EP1572962.
DQ891529 - Synthetic construct clone IMAGE:100004159; FLH177751.01X; RZPDo839D08126D neurogenin 1 (NEUROG1) gene, encodes complete protein.
BT019366 - Homo sapiens neurogenin 1 mRNA, complete cds.
AK314280 - Homo sapiens cDNA, FLJ95034, highly similar to Homo sapiens neurogenin 1 (NEUROG1), mRNA.
KJ891692 - Synthetic construct Homo sapiens clone ccsbBroadEn_01086 NEUROG1 gene, encodes complete protein.
DQ894718 - Synthetic construct Homo sapiens clone IMAGE:100009178; FLH177747.01L; RZPDo839D08125D neurogenin 1 (NEUROG1) gene, encodes complete protein.
AB464633 - Synthetic construct DNA, clone: pF1KB9630, Homo sapiens NEUROG1 gene for neurogenin 1, without stop codon, in Flexi system.
LF213327 - JP 2014500723-A/20830: Polycomb-Associated Non-Coding RNAs.
JD187426 - Sequence 168450 from Patent EP1572962.
JD396789 - Sequence 377813 from Patent EP1572962.
JD208985 - Sequence 190009 from Patent EP1572962.
JD138758 - Sequence 119782 from Patent EP1572962.
JD134778 - Sequence 115802 from Patent EP1572962.
MA448112 - JP 2018138019-A/20038: Polycomb-Associated Non-Coding RNAs.
MA448904 - JP 2018138019-A/20830: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: BHLHA6, ENST00000314744.1, ENST00000314744.2, ENST00000314744.3, ENST00000314744.4, ENST00000314744.5, NEUROD3, NGN, NGN1, NGN1_HUMAN, NM_006161, Q5U0Q9, Q92886, Q96HE1, uc317prw.1, uc317prw.2
UCSC ID: ENST00000314744.6_6
RefSeq Accession: NM_006161.3
Protein: Q92886 (aka NGN1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.