• Gene id: 4762

Gene Summary

• Gene Symbol: NEUROG1   Gene   UCSC   Ensembl
• Aliases: AKA, Math4C, NEUROD3, bHLHa6, ngn1
• Gene name: neurogenin 1
• Alternate names: neurogenin-1, NGN-1, class A basic helix-loop-helix protein 6, neurogenic basic-helix-loop-helix protein, neurogenic differentiation 3, neurogenic differentiation factor 3,
• Gene location: 5q31.1 (110713600: 110641409)     Exons: 24     NC_000013.11
• OMIM: 601726

Protein Summary

• Protein general information: Q92886  
  • Name: Neurogenin 1 (NGN 1) (Class A basic helix loop helix protein 6) (bHLHa6) (Neurogenic basic helix loop helix protein) (Neurogenic differentiation factor 3) (NeuroD3)
  • Length: 237  
  • Mass: 25718
  • Tissue specificity: Expression restricted to the embryonic nervous system.
• Sequence:

  MPARLETCISDLDCASSSGSDLSGFLTDEEDCARLQQAASASGPPAPARRGAPNISRASEVPGAQDDEQERRRRR
  GRTRVRSEALLHSLRRSRRVKANDRERNRMHNLNAALDALRSVLPSFPDDTKLTKIETLRFAYNYIWALAETLRL
  ADQGLPGGGARERLLPPQCVPCLPGPPSPASDAESWGSGAAAASPLSDPSSPAASEDFTYRPGDPVFSFPSLPKD
  LLHTTPCFIPYH

• Structural information:
  • Protein Domains: (92..14-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR032653  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000317580
• Other Databases: GeneCards:  NEUROG1  Malacards:  NEUROG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0045666	positive regulation of neuron differentiation	ISS	biological process
GO:0003682	chromatin binding	ISS	molecular function
GO:0070888	E-box binding	ISS	molecular function
GO:0051091	positive regulation of DNA-binding transcription factor activity	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0022008	neurogenesis	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0031536	positive regulation of exit from mitosis	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0045664	regulation of neuron differentiation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007356	thorax and anterior abdomen determination	IGI	biological process
GO:0035112	genitalia morphogenesis	IGI	biological process
GO:1901078	negative regulation of relaxation of muscle	IGI	biological process
GO:0042472	inner ear morphogenesis	IGI	biological process
GO:0098583	learned vocalization behavior	IGI	biological process
GO:1905747	negative regulation of saliva secretion	IGI	biological process
GO:1905748	hard palate morphogenesis	IGI	biological process
GO:0021559	trigeminal nerve development	IGI	biological process
GO:0048806	genitalia development	IGI	biological process
GO:0021650	vestibulocochlear nerve formation	IGI	biological process
GO:0031223	auditory behavior	IGI	biological process
GO:0048634	regulation of muscle organ development	IGI	biological process
GO:0050885	neuromuscular process controlling balance	IGI	biological process
GO:0030432	peristalsis	IGI	biological process
GO:0071626	mastication	IGI	biological process
GO:0097094	craniofacial suture morphogenesis	IGI	biological process
GO:0048839	inner ear development	IGI	biological process
GO:0090102	cochlea development	IGI	biological process
GO:0090103	cochlea morphogenesis	IGI	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:1990837	sequence-specific double-stranded DNA binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881