Version 5.4
Homo sapiens Gene: BHLHE41
Summary
InnateDB Gene IDBG-24078.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BHLHE41
Gene Name basic helix-loop-helix family, member e41
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000123095
Encoded Proteins
IDBP-24080
basic helix-loop-helix family, member e41
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a transcription factor that belongs to the Hairy/Enhancer of Split subfamily of basic helix-loop-helix factors. The encoded protein functions as a transcriptional repressor and as a regulator of molecular clock. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:26120026-26125127
Strand Reverse strand
Band p12.1
Transcripts
ENST00000242728 ENSP00000242728
ENST00000394326
ENST00000541271
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 12 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0001102 RNA polymerase II activating transcription factor binding
GO:0001191 RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription
GO:0003677 DNA binding
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0042826 histone deacetylase binding
GO:0043425 bHLH transcription factor binding
GO:0043426 MRF binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0070888 E-box binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007623 circadian rhythm
GO:0008283 cell proliferation
GO:0009887 organ morphogenesis
GO:0010832 negative regulation of myotube differentiation
GO:0010944 negative regulation of transcription by competitive promoter binding
GO:0030154 cell differentiation
GO:0032922 circadian regulation of gene expression
GO:0045892 negative regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000030256
View Gene Order
ENSBTAG00000030575
Not yet available
Pathways
NETPATH
REACTOME
REACT_111118
BMAL1:CLOCK,NPAS2 activates circadian gene expression pathway
REACT_24941
Circadian Clock pathway
KEGG
hsa04710
Circadian rhythm pathway
INOH
PID NCI
hif1_tfpathway
HIF-1-alpha transcription factor network
Cross-References
SwissProt Q9C0J9
TrEMBL A0A024RAV8
UniProt Splice Variant
Entrez Gene 79365
UniGene Hs.177841 Hs.604154
RefSeq NM_030762
HUGO HGNC:16617
OMIM 606200
CCDS CCDS8706
HPRD 16204
IMGT
EMBL AB044088 CH471094 EF015896
GenPept ABM64207 BAB21502 EAW96527 EAW96528
RNA Seq Atlas 79365

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca