Query author contributions in Reactome
Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.
If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.
Details on Person UniProt:Q9C0J9 BHLHE41
| Class:Id | ReferenceGeneProduct:50818 |
|---|---|
| _chainChangeLog | chain:1-482 added on Fri February 6 2015 |
| _displayName | UniProt:Q9C0J9 BHLHE41 |
| _timestamp | 2024-11-03 19:50:06 |
| chain | chain:1-482 |
| checksum | 2BECDC2FDEB7CE14 |
| comment | FUNCTION 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-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).SUBUNIT Homodimer (By similarity). Heterodimer with BHLHE40/DEC1 (PubMed:15193144). Interacts with CIART and BMAL1 (By similarity). Interacts with RXRA (PubMed:19786558). Interacts with NR0B2 and HNF1A (By similarity).INTERACTION 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 familial natural short sleep 1 (FNSS1) phenotype, an autosomal dominant trait [MIM:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group. |
| description | recommendedName: fullName evidence="14"Class E basic helix-loop-helix protein 41 shortName: bHLHe41 alternativeName: Class B basic helix-loop-helix protein 3 shortName: bHLHb3 alternativeName: Differentially expressed in chondrocytes protein 2 shortName: hDEC2 alternativeName: Enhancer-of-split and hairy-related protein 1 shortName: SHARP-1 |
| geneName | BHLHE41 BHLHB3 DEC2 SHARP1 |
| identifier | Q9C0J9 |
| isSequenceChanged | FALSE |
| keyword | Biological rhythms DNA-binding Isopeptide bond Nucleus Proteomics identification Reference proteome Repressor Transcription Transcription regulation Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | BHLHE41 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:5641226] ENSEMBL:ENSG00000123095 BHLHE41 [Homo sapiens] |
| secondaryIdentifier | BHE41_HUMAN A2I2N8 |
| sequenceLength | 482 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:879703] BHLHE41 [nucleoplasm] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q9C0J9 BHLHE41 (50818)
