Aliases for BHLHE41 Gene
External Ids for BHLHE41 Gene
Previous HGNC Symbols for BHLHE41 Gene
Previous GeneCards Identifiers for BHLHE41 Gene
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 believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
GeneCards Summary for BHLHE41 Gene
BHLHE41 (Basic Helix-Loop-Helix Family Member E41) is a Protein Coding gene. Diseases associated with BHLHE41 include Short Sleep, Familial Natural, 1 and Advanced Sleep Phase Syndrome, Familial, 1. Among its related pathways are Circadian rhythm and Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is BHLHE40.
UniProtKB/Swiss-Prot Summary for BHLHE41 Gene
Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes (PubMed:11278948, PubMed:14672706, PubMed:15193144, PubMed:15560782, PubMed:18411297, PubMed:19786558, PubMed:25083013). 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 (PubMed:25083013). 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. Inhibits HNF1A-mediated transactivation of CYP1A2, CYP2E1 AND CYP3A11 (By similarity).