Human Gene BHLHE41 (ENST00000242728.5) from GENCODE V44
Description: Homo sapiens basic helix-loop-helix family member e41 (BHLHE41), mRNA. (from RefSeq NM_030762) RefSeq Summary (NM_030762): 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]. Gencode Transcript: ENST00000242728.5 Gencode Gene: ENSG00000123095.6 Transcript (Including UTRs) Position: hg38 chr12:26,120,030-26,125,037 Size: 5,008 Total Exon Count: 5 Strand: - Coding Region Position: hg38 chr12:26,122,066-26,124,779 Size: 2,714 Coding Exon Count: 5
ID:BHE41_HUMAN DESCRIPTION: RecName: Full=Class E basic helix-loop-helix protein 41; Short=bHLHe41; AltName: Full=Class B basic helix-loop-helix protein 3; Short=bHLHb3; AltName: Full=Differentially expressed in chondrocytes protein 2; Short=hDEC2; AltName: Full=Enhancer-of-split and hairy-related protein 1; Short=SHARP-1; FUNCTION: May be a transcriptional repressor that represses both basal and activated transcription. SUBUNIT: Homodimerize. SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney. POLYMORPHISM: Genetic variations in BHLHE41 are associated with the short sleep phenotype [MIM:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group. SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain. SIMILARITY: Contains 1 Orange domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9C0J9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.