• Gene id: 79365

Gene Summary

• Gene Symbol: BHLHE41   Gene   UCSC   Ensembl
• Aliases: BHLHB3, DEC2, FNSS1, SHARP1, hDEC2
• Gene name: basic helix-loop-helix family member e41
• Alternate names: class E basic helix-loop-helix protein 41, basic helix-loop-helix domain containing, class B, 3, differentially expressed in chondrocytes protein 2, enhancer-of-split and hairy-related protein 1,
• Gene location: 12p12.1 (26125036: 26120029)     Exons: 5     NC_000012.12
• Gene summary(Entrez): This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believe

Protein Summary

• Protein general information: Q9C0J9  
  • Name: Class E basic helix loop helix protein 41 (bHLHe41) (Class B basic helix loop helix protein 3) (bHLHb3) (Differentially expressed in chondrocytes protein 2) (hDEC2) (Enhancer of split and hairy related protein 1) (SHARP 1)
  • Length: 482  
  • Mass: 50498
  • Tissue specificity: Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney.
• Sequence:

  MDEGIPHLQERQLLEHRDFIGLDYSSLYMCKPKRSMKRDDTKDTYKLPHRLIEKKRRDRINECIAQLKDLLPEHL
  KLTTLGHLEKAVVLELTLKHLKALTALTEQQHQKIIALQNGERSLKSPIQSDLDAFHSGFQTCAKEVLQYLSRFE
  SWTPREPRCVQLINHLHAVATQFLPTPQLLTQQVPLSKGTGAPSAAGSAAAPCLERAGQKLEPLAYCVPVIQRTQ
  PSAELAAENDTDTDSGYGGEAEARPDREKGKGAGASRVTIKQEPPGEDSPAPKRMKLDSRGGGSGGGPGGGAAAA
  AAALLGPDPAAAAALLRPDAALLSSLVAFGGGGGAPFPQPAAAAAPFCLPFCFLSPSAAAAYVQPFLDKSGLEKY
  LYPAAAAAPFPLLYPGIPAPAAAAAAAAAAAAAAAAFPCLSSVLSPPPEKAGAAAATLLPHEVAPLGAPHPQHPH
  GRTHLPFAGPREPGNPESSAQEDPSQPGKEAP

• Structural information:
  • Protein Domains: (44..9-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (131..16-)
    (/note="Orange-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00380"-)
  • Interpro: IPR011598  IPR036638  IPR003650  
  • Prosite: PS50888 PS51054
  • CDD: cd00083
  • DIP: 59904
  • STRING: ENSP00000242728
• Other Databases: GeneCards:  BHLHE41  Malacards:  BHLHE41

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:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0000122	negative 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:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0032922	circadian regulation of gene expression	IBA	biological process
GO:0050767	regulation of neurogenesis	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0043425	bHLH transcription factor binding	IEA	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0010832	negative regulation of myotube differentiation	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0070888	E-box binding	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0043426	MRF binding	IEA	molecular function
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0010944	negative regulation of transcription by competitive promoter binding	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0043425	bHLH transcription factor binding	ISS	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	ISS	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:0042826	histone deacetylase binding	ISS	molecular function
GO:0043426	MRF binding	ISS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0070888	E-box binding	ISS	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0010832	negative regulation of myotube differentiation	ISS	biological process
GO:0010944	negative regulation of transcription by competitive promoter binding	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04710	Circadian rhythm

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray