• Gene id: 4807

Gene Summary

• Gene Symbol: NHLH1   Gene   UCSC   Ensembl
• Aliases: HEN1, NSCL, NSCL1, bHLHa35
• Gene name: nescient helix-loop-helix 1
• Alternate names: helix-loop-helix protein 1, HEN-1, NSCL-1, class A basic helix-loop-helix protein 35,
• Gene location: 1q23.2 (160367070: 160372845)     Exons: 2     NC_000001.11
• Gene summary(Entrez): The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly i
• OMIM: 162360

Protein Summary

• Protein general information: Q02575  
  • Name: Helix loop helix protein 1 (HEN 1) (Class A basic helix loop helix protein 35) (bHLHa35) (Nescient helix loop helix 1) (NSCL 1)
  • Length: 133  
  • Mass: 14618
• Sequence:

  MMLNSDTMELDLPPTHSETESGFSDCGGGAGPDGAGPGGPGGGQARGPEPGEPGRKDLQHLSREERRRRRRATAK
  YRTAHATRERIRVEAFNLAFAELRKLLPTLPPDKKLSKIEILRLAICYISYLNHVLDV

• Structural information:
  • Protein Domains: (75..12-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR040238  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000302189
• Other Databases: GeneCards:  NHLH1  Malacards:  NHLH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
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)