BHLHE41 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | BHLHE41 |
| Official Name | basic helix-loop-helix family member e41 [Source:HGNC Symbol;Acc:HGNC:16617] |
| Ensembl ID | ENSG00000123095 |
| Bio databases IDs | |
| Aliases | basic helix-loop-helix family member e41, differentially expressed in chondrocytes 2, Enhancer-of-split and hairy-related protein 1 |
| Synonyms | 6430520M22Rik, basic helix-loop-helix family member e41, basic helix-loop-helix family, member e41, Bhlhb2l, BHLHB3, DEC2, FNSS1, hDEC2, SHARP-1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BHLHE41 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- nucleic acid binding
- transcription co-repressor
- basic Helix Loop Helix (bHLH) domain superfamily
- transcription factor binding
- histone deacetylase binding
- protein binding
- sequence-specific DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- helix loop helix domain
- protein homodimerization
- Hairy Orange
- Helix-loop-helix DNA-binding domain
- protein heterodimerization
Pathways
Biological processes and signaling networks where the BHLHE41 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- familial natural short sleep type 1
- diabetes mellitus
role in cell
- binding in
- expression in
- apoptosis
- degradation in
- migration
- differentiation
- invasion
- transactivation in
- invasiveness
- metastatic potential
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BHLHE41 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- circadian regulation of gene expression
- negative regulation of transcription, DNA-dependent
- negative regulation of transcription by competitive promoter binding
- anterior/posterior pattern specification
- negative regulation of myotube differentiation
- regulation of neurogenesis
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- protein binding
- histone deacetylase binding
- protein heterodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- MRF binding
- bHLH transcription factor binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- E-box binding