Homo sapiens Protein: BHLHE41
Summary
InnateDB Protein IDBP-24080.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BHLHE41
Protein Name basic helix-loop-helix family, member e41
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000242728
InnateDB Gene IDBG-24078 (BHLHE41)
Protein Structure
UniProt Annotation
Function Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes. Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA/B/G, NR1H3/LXRA, NR1H4 and VDR transactivation activity. {ECO:0000269PubMed:11278948, ECO:0000269PubMed:14672706, ECO:0000269PubMed:15193144, ECO:0000269PubMed:15560782, ECO:0000269PubMed:18411297, ECO:0000269PubMed:19786558}.
Subcellular Localization Nucleus {ECO:0000255PROSITE- ProRule:PRU00380, ECO:0000255PROSITE-ProRule:PRU00981}.
Disease Associations
Tissue Specificity Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR003650 Orange
IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
IPR018352 Orange subgroup
PFAM PF07527
PF00010
PRINTS
PIRSF
SMART SM00353
SM00511
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9C0J9
PhosphoSite PhosphoSite-Q9C0J9
TrEMBL A0A024RAV8
UniProt Splice Variant
Entrez Gene 79365
UniGene Hs.604154
RefSeq NP_110389
HUGO HGNC:16617
OMIM 606200
CCDS CCDS8706
HPRD 16204
IMGT
EMBL AB044088 CH471094 EF015896
GenPept ABM64207 BAB21502 EAW96527 EAW96528