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BHLHE41 - basic helix-loop-helix family member e41 Gene

Also Known as DEC2; FNSS1; hDEC2; BHLHB3; SHARP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79365

About BHLHE41

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:26,120,030-26,125,037 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 12 paralogues and is associated with 1 phenotype. Broad expression in thyroid (RPKM 31.2), brain (RPKM 21.3) and 19 other tissues.

Summary

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]

BHLHE41 Products (1)

mRNA	Protein	Name
NM_030762.3	NP_110389.1	class E basic helix-loop-helix protein 41

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	19786558	GOA
enables E-box binding	IDA IDA: Inferred from direct assay	14672706	GOA
enables bHLH transcription factor binding	IPI IPI: Inferred from physical interaction	15193144	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19786558	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	15193144	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	14672706	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BHLHE41 Protein Structure

HLH

Hairy_orange

0
100
200
300
400
482 a.a.

Protein Preferred Names	Protein Names
class E basic helix-loop-helix protein 41	basic helix-loop-helix domain containing, class B, 3

BHLHE41 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BHLHE41	Q9C0J9	HIF1A	Homo sapiens	Q16665	Anti Bait CoIP	22801492

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Short Sleep, Familial Natural, 1	FNSS1 Short Sleep Phenotype Sleep, Short, Natural, Familial, Type 1
Advanced Sleep Phase Syndrome, Familial, 1	Advanced Sleep Phase Syndrome 1 FASPS1 Familial Advanced Sleep Phase Syndrome 1 Sleep Phase Syndrome, Advanced, Familial, Type 1
Advanced Sleep Phase Syndrome	Fasps Familial Advanced Sleep-Phase Syndrome Advanced Sleep Phase Syndrome, Familial Familial Advanced Sleep Phase Syndrome Sleep Phase Syndrome, Advanced, Familial Advanced Sleep-Phase Syndrome, Familial
Erythrocytosis, Familial, 5	ECYT5 Familial Erythrocytosis 5
Erythrocytosis, Familial, 3	ECYT3 Familial Erythrocytosis 3 Erythrocytosis, Familial, Type 3
Delayed Sleep Phase Disorder	Delayed Sleep Phase Syndrome Delayed Sleep Phase Syndrome, Susceptibility To DSPD Delayed Sleep Phase Disorder, Susceptibility To DSPS Sleep Phase, Delayed, Disorder Sleep Phase Syndrome, Delayed, Susceptibility To
Major Depressive Disorder	Seasonal Affective Disorder Unipolar Depression Depression MDD Depressive Disorder Unipolar Depression, Susceptibility To Major Depressive Disorder 1 Major Depressive Disorder, Response To Citalopram Therapy In Major Depressive Disorder 2 Winter Depression Single Major Depressive Episode Sad Clinical Depression Major Depression Depressive Syndrome Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment Seasonal Affective Disorder, Susceptibility To Recurrent Major Depression Affective Disorder, Seasonal Depression In A Seasonal Pattern Depression Seasonal Major Depressive Disorder With A Seasonal Pattern Seasonal Depression Seasonal Mood Disorder Mental Depression Recurrent Major Depressive Episodes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01494	BHLHE41 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	BHLHE41	RGD	RGD:70900
Mus musculus	BHLHE41	MGD	MGI:1930704
Bos taurus	BHLHE41	VGNC	VGNC:26487
Canis familiaris	BHLHE41	VGNC	VGNC:57419
Macaca mulatta	BHLHE41	VGNC	VGNC:108327
Others	BHLHE41	NCBI