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BHLHE41

History and Structure: – BHLHE41, identified by Klaus-Armin Naves lab, belongs to the DEC subfamily of bHLH proteins. – It has 3 known splice variants, […]

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History and Structure:
– BHLHE41, identified by Klaus-Armin Naves lab, belongs to the DEC subfamily of bHLH proteins.
– It has 3 known splice variants, with BHLHE41-001 encoding a 482 amino acid protein.
– Mapped to human chromosome 12, BHLHE41 has 165 known orthologs.
– The protein has a bHLH domain for dimerization and an orange domain with unclear function.
– BHLHE41 recruits histone modifiers to repress target gene expression.

Function:
– Circadian Role:
– Peaks in the suprachiasmatic nucleus during the day.
– Acts as a transcriptional repressor and regulates the Circadian clock.
– Competes with Clock-Bmal1 to suppress per gene transcription.
– Non-circadian Role:
– Implicated in cancer progression and immune responses.
– Low levels associated with tumor growth suppression.
– Enhances memory consolidation in SHARP1/BHLHE41 and SHARP2 knockout mice.

Mutations and Clinical Significance:
– A point mutation in DEC2 affects sleep timing and duration in humans.
– Found in familial natural short sleepers (FNSS) and leads to reduced REM and non-REM sleep in mice.
– Regulates T-cell activation, upregulates CD25 expression, and promotes TH2 differentiation through IL-2 receptor signaling.
– In hypoxia, it represses cell proliferation and can degrade HIF-1α to block hypoxic responses.

Muscle Function:
– Inhibits myogenic differentiation by repressing MyoD activity.
– Transcriptional target of SREBP-1, blocking myogenesis.
– Affects the expression of contractile and mitochondrial proteins in muscle.

Cancer Implications:
– Sarcoma, Oral Cancer, Liver Cancer, and Colon Cancer:
– Suppresses VEGF expression in sarcoma and oral cancer cells.
– Inhibits CYP2D6 in hepatocellular carcinoma cells.
– Highly expressed in normal tissue adjacent to colon carcinomas.
– Breast Cancer:
– Regulates metastasis in triple-negative-breast cancer.
– Inhibits TNBC by suppressing HIF-1α and HIF-2α.
– High expression may reduce metastatic risk.

This grouping covers the historical background, structural features, functional roles, mutations, clinical implications, muscle-related functions, and implications in various cancer types.

BHLHE41 (Wikipedia)

"Basic helix-loop-helix family, member e41", or BHLHE41, is a gene that encodes a basic helix-loop-helix transcription factor repressor protein in various tissues of both humans and mice. It is also known as DEC2, hDEC2, and SHARP1, and was previously known as "basic helix-loop-helix domain containing, class B, 3", or BHLHB3. BHLHE41 is known for its role in the circadian molecular mechanisms that influence sleep quantity as well as its role in immune function and the maturation of T helper type 2 cell lineages associated with humoral immunity.

BHLHE41
Identifiers
AliasesBHLHE41, DEC2, SHARP1, BHLHe41, HDEC2, SHARP-1, BHLHB3, Basic Helix-Loop-Helix Family Member E41, Basic Helix-Loop-Helix Family, Member E41, Class E Basic Helix-Loop-Helix Protein 41, Class B Basic Helix-Loop-Helix Protein 3, Basic Helix-Loop-Helix Domain Containing, Class B, 3, Differentially Expressed In Chondrocytes 2, Differentially Expressed In Chondrocytes Protein 2, Enhancer-Of-Split And Hairy-Related Protein 1, FNSS1
External IDsOMIM: 606200 MGI: 1930704 HomoloGene: 137401 GeneCards: BHLHE41
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_030762

NM_001271768
NM_024469

RefSeq (protein)

NP_110389

NP_001258697
NP_077789

Location (UCSC)Chr 12: 26.12 – 26.13 MbChr 6: 145.8 – 145.81 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse
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