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Aliases for BHLHE41 Gene

Aliases for BHLHE41 Gene

  • Basic Helix-Loop-Helix Family Member E41 2 3 5
  • Enhancer-Of-Split And Hairy-Related Protein 1 2 3 4
  • Basic Helix-Loop-Helix Domain Containing, Class B, 3 2 3
  • Differentially Expressed In Chondrocytes Protein 2 3 4
  • Basic Helix-Loop-Helix Family, Member E41 2 3
  • BHLHB3 3 4
  • SHARP1 3 4
  • HDEC2 3 4
  • DEC2 3 4
  • Differentially Expressed In Chondrocytes 2 2
  • Class B Basic Helix-Loop-Helix Protein 3 4
  • SHARP-1 4
  • BHLHe41 4

External Ids for BHLHE41 Gene

Previous HGNC Symbols for BHLHE41 Gene

  • BHLHB3

Previous GeneCards Identifiers for BHLHE41 Gene

  • GC12M026165
  • GC12M026272
  • GC12M026043

Summaries for BHLHE41 Gene

Entrez Gene Summary for BHLHE41 Gene

  • 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]

GeneCards Summary for BHLHE41 Gene

BHLHE41 (Basic Helix-Loop-Helix Family Member E41) is a Protein Coding gene. Among its related pathways are Circadian rhythm and Th2 Differentiation Pathway. GO annotations related to this gene include protein homodimerization activity and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is BHLHE40.

UniProtKB/Swiss-Prot for BHLHE41 Gene

  • Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. 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-ARNTL/BMAL1 heterodimer by competing for the binding to E-box elements (5-CACGTG-3) found within the promoters of its target genes. 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.

Gene Wiki entry for BHLHE41 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BHLHE41 Gene

Genomics for BHLHE41 Gene

Regulatory Elements for BHLHE41 Gene

Enhancers for BHLHE41 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BHLHE41 on UCSC Golden Path with GeneCards custom track

Promoters for BHLHE41 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BHLHE41 on UCSC Golden Path with GeneCards custom track

Genomic Location for BHLHE41 Gene

Chromosome:
12
Start:
26,120,026 bp from pter
End:
26,125,127 bp from pter
Size:
5,102 bases
Orientation:
Minus strand

Genomic View for BHLHE41 Gene

Genes around BHLHE41 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BHLHE41 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BHLHE41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BHLHE41 Gene

Proteins for BHLHE41 Gene

  • Protein details for BHLHE41 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0J9-BHE41_HUMAN
    Recommended name:
    Class E basic helix-loop-helix protein 41
    Protein Accession:
    Q9C0J9
    Secondary Accessions:
    • A2I2N8

    Protein attributes for BHLHE41 Gene

    Size:
    482 amino acids
    Molecular mass:
    50498 Da
    Quaternary structure:
    • Homodimer. Heterodimer with BHLHE40/DEC1. Interacts with CIART and ARNTL/BMAL1 (By similarity). Interacts with RXRA.

neXtProt entry for BHLHE41 Gene

Proteomics data for BHLHE41 Gene at MOPED

Post-translational modifications for BHLHE41 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BHLHE41 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BHLHE41 Gene

Domains & Families for BHLHE41 Gene

Gene Families for BHLHE41 Gene

Protein Domains for BHLHE41 Gene

Graphical View of Domain Structure for InterPro Entry

Q9C0J9

UniProtKB/Swiss-Prot:

BHE41_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 Orange domain.
genes like me logo Genes that share domains with BHLHE41: view

Function for BHLHE41 Gene

Molecular function for BHLHE41 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. 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-ARNTL/BMAL1 heterodimer by competing for the binding to E-box elements (5-CACGTG-3) found within the promoters of its target genes. 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.

Gene Ontology (GO) - Molecular Function for BHLHE41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding IEA,ISS --
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA,ISS --
GO:0003714 transcription corepressor activity IEA,IDA 19786558
GO:0042803 protein homodimerization activity IEA,ISS --
genes like me logo Genes that share ontologies with BHLHE41: view
genes like me logo Genes that share phenotypes with BHLHE41: view

Animal Model Products

CRISPR Products

miRNA for BHLHE41 Gene

miRTarBase miRNAs that target BHLHE41

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BHLHE41 Gene

Localization for BHLHE41 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BHLHE41 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BHLHE41 Gene COMPARTMENTS Subcellular localization image for BHLHE41 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for BHLHE41 Gene

Pathways & Interactions for BHLHE41 Gene

genes like me logo Genes that share pathways with BHLHE41: view

Pathways by source for BHLHE41 Gene

1 BioSystems pathway for BHLHE41 Gene
1 KEGG pathway for BHLHE41 Gene
1 R&D Systems pathway for BHLHE41 Gene
1 Qiagen pathway for BHLHE41 Gene

SIGNOR curated interactions for BHLHE41 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BHLHE41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007623 circadian rhythm IEA --
GO:0008283 cell proliferation NAS 11162494
GO:0010944 negative regulation of transcription by competitive promoter binding IEA,ISS --
genes like me logo Genes that share ontologies with BHLHE41: view

Drugs & Compounds for BHLHE41 Gene

(1) Additional Compounds for BHLHE41 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BHLHE41: view

Transcripts for BHLHE41 Gene

mRNA/cDNA for BHLHE41 Gene

Unigene Clusters for BHLHE41 Gene

Basic helix-loop-helix family, member e41:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BHLHE41 Gene

No ASD Table

Relevant External Links for BHLHE41 Gene

GeneLoc Exon Structure for
BHLHE41
ECgene alternative splicing isoforms for
BHLHE41

Expression for BHLHE41 Gene

mRNA expression in normal human tissues for BHLHE41 Gene

mRNA differential expression in normal tissues according to GTEx for BHLHE41 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.2).

Protein differential expression in normal tissues from HIPED for BHLHE41 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BHLHE41 Gene



SOURCE GeneReport for Unigene cluster for BHLHE41 Gene Hs.177841

mRNA Expression by UniProt/SwissProt for BHLHE41 Gene

Q9C0J9-BHE41_HUMAN
Tissue specificity: Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney.
genes like me logo Genes that share expression patterns with BHLHE41: view

Protein tissue co-expression partners for BHLHE41 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for BHLHE41 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BHLHE41 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BHLHE41 35
  • 99.72 (n)
  • 100 (a)
BHLHE41 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BHLHE41 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BHLHE41 36
  • 43 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BHLHE41 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bhlhe41 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BHLHE41 36
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bhlhe41 36
  • 51 (a)
OneToOne
Species with no ortholog for BHLHE41:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BHLHE41 Gene

ENSEMBL:
Gene Tree for BHLHE41 (if available)
TreeFam:
Gene Tree for BHLHE41 (if available)

Paralogs for BHLHE41 Gene

Paralogs for BHLHE41 Gene

(3) SIMAP similar genes for BHLHE41 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for BHLHE41 Gene

genes like me logo Genes that share paralogs with BHLHE41: view

Variants for BHLHE41 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for BHLHE41 Gene

Q9C0J9-BHE41_HUMAN
Genetic variations in BHLHE41 are associated with the short sleep phenotype [MIM:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.

Sequence variations from dbSNP and Humsavar for BHLHE41 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_063259 -
rs192489334 -- 26,119,725(+) AGCTG(A/G)CAATC downstream-variant-500B
rs576632360 -- 26,119,743(+) GTTTG(C/T)ATCAT downstream-variant-500B
rs552900502 -- 26,119,538(+) TTCCT(A/G)TCACG downstream-variant-500B
rs146921383 -- 26,119,601(+) ACTTG(A/C)AGTTC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for BHLHE41 Gene

Variant ID Type Subtype PubMed ID
dgv1396n71 CNV Loss 21882294

Variation tolerance for BHLHE41 Gene

Gene Damage Index Score: 10.12; 90.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BHLHE41 Gene

HapMap Linkage Disequilibrium report
BHLHE41
Human Gene Mutation Database (HGMD)
BHLHE41

Disorders for BHLHE41 Gene

Relevant External Links for BHLHE41

Genetic Association Database (GAD)
BHLHE41
Human Genome Epidemiology (HuGE) Navigator
BHLHE41
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BHLHE41

No disorders were found for BHLHE41 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BHLHE41 Gene

Publications for BHLHE41 Gene

  1. Molecular cloning and characterization of DEC2, a new member of basic helix-loop-helix proteins. (PMID: 11162494) Fujimoto K. … Kato Y. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 23 67
  2. Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation. (PMID: 18557763) Stevens J.D. … Skinner M.K. (Differentiation 2008) 2 3
  3. Human mismatch repair gene, MLH1, is transcriptionally repressed by the hypoxia-inducible transcription factors, DEC1 and DEC2. (PMID: 18345027) Nakamura H. … Nishiyama M. (Oncogene 2008) 3 23
  4. Functional analysis of the basic helix-loop-helix transcription factor DEC1 in circadian regulation. Interaction with BMAL1. (PMID: 15560782) Sato F. … Kato Y. (Eur. J. Biochem. 2004) 3 23
  5. DEC1 negatively regulates the expression of DEC2 through binding to the E-box in the proximal promoter. (PMID: 12624110) Li Y. … Yan B. (J. Biol. Chem. 2003) 3 23

Products for BHLHE41 Gene

Sources for BHLHE41 Gene

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