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Ask your administrator if you think this is wrong. ======= BHLHE41 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: BHLHE41 * **<color #00a2e8>Official Name</color>**: basic helix-loop-helix family member e41 * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79365|79365]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9C0J9|Q9C0J9]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BHLHE41&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BHLHE41|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606200|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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:0000269|PubMed:11278948, ECO:0000269|PubMed:14672706, ECO:0000269|PubMed:15193144, ECO:0000269|PubMed:15560782, ECO:0000269|PubMed:18411297, ECO:0000269|PubMed:19786558}. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Hairy orange| |HLH| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |MRF binding| |negative regulation of transcription by competitive promoter binding| |negative regulation of myotube differentiation| |bHLH transcription factor binding| |negative regulation of striated muscle cell differentiation| |E-box binding| |RNA polymerase II activating transcription factor binding| |negative regulation of muscle cell differentiation| |regulation of myotube differentiation| |circadian regulation of gene expression| |RNA polymerase II distal enhancer sequence-specific DNA binding| |regulation of striated muscle cell differentiation| |histone deacetylase binding| |circadian rhythm| |regulation of muscle cell differentiation| |anterior/posterior pattern specification| |transcription corepressor activity| |DNA-binding transcription repressor activity, RNA polymerase II-specific| |rhythmic process| |RNA polymerase II regulatory region sequence-specific DNA binding| |regionalization| |pattern specification process| |protein heterodimerization activity| |RNA polymerase II proximal promoter sequence-specific DNA binding| |cell population proliferation| |negative regulation of cell differentiation| |regulation of neurogenesis| |negative regulation of transcription by RNA polymerase II| |protein homodimerization activity| |regulation of nervous system development| |regulation of cell development| |negative regulation of developmental process| |animal organ morphogenesis| |negative regulation of transcription, DNA-templated| |negative regulation of nucleic acid-templated transcription| |negative regulation of RNA biosynthetic process| |negative regulation of RNA metabolic process| |negative regulation of cellular macromolecule biosynthetic process| |negative regulation of nucleobase-containing compound metabolic process| |negative regulation of macromolecule biosynthetic process| |negative regulation of cellular biosynthetic process| |generation of neurons| |negative regulation of biosynthetic process| |DNA-binding transcription factor activity, RNA polymerase II-specific| |neurogenesis| |negative regulation of gene expression| |regulation of cell differentiation| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 10345 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -0.82 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='BHLHE41 Expression in NALM6 Cells: -0.82'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1