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

Homo sapiens

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

Gene ID: 79365 | Gene type: protein coding

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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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