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 Verweise 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 Verweise 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

HLH: Helix-loop-helix DNA-binding domain (49 - 99)

Hairy_orange

Hairy_orange: Hairy Orange (130 - 172)

  • 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 Verweise
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)
Art. -Nr. Produktname
Wirkung
Reinheit
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