Bhlhe40 basic helix-loop-helix family, member e40 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bhlhe40provided by MGI
Official Full Name: basic helix-loop-helix family, member e40provided by MGI
Primary source: MGI:MGI:1097714
See related: Ensembl:ENSMUSG00000030103 AllianceGenome:MGI:1097714
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CR8; Dec1; Bhlhb2; Clast5; Sharp2; Stra13; Stra14; C130042M06Rik
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. [provided by RefSeq, Feb 2014]
Expression: Ubiquitous expression in adrenal adult (RPKM 15.2), kidney adult (RPKM 15.1) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 E2; 6 49.85 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (108637590..108643886)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (108660629..108666925)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bhlhe40 deficiency attenuates LPS-induced acute lung injury through preventing macrophage pyroptosis.
Title: Bhlhe40 deficiency attenuates LPS-induced acute lung injury through preventing macrophage pyroptosis.
BHLHE40 drives protective polyfunctional CD4 T cell differentiation in the female reproductive tract against Chlamydia.
Title: BHLHE40 drives protective polyfunctional CD4 T cell differentiation in the female reproductive tract against Chlamydia.
BHLHE40 Mediates Cross-Talk between Pathogenic TH17 Cells and Myeloid Cells during Experimental Autoimmune Encephalomyelitis.
Title: BHLHE40 Mediates Cross-Talk between Pathogenic TH17 Cells and Myeloid Cells during Experimental Autoimmune Encephalomyelitis.
Bhlhe40 limits early IL-10 production from CD4[+] T cells during Plasmodium yoelii 17X infection.
Title: Bhlhe40 limits early IL-10 production from CD4(+) T cells during Plasmodium yoelii 17X infection.
Differentiated embryonic chondrocyte expressed gene-1 is a central signaling component in the development of collagen-induced rheumatoid arthritis.
Title: Differentiated embryonic chondrocyte expressed gene-1 is a central signaling component in the development of collagen-induced rheumatoid arthritis.
Ribosomal Stress Couples with the Hypoxia Response in Dec1-Dependent Orthodontic Tooth Movement.
Title: Ribosomal Stress Couples with the Hypoxia Response in Dec1-Dependent Orthodontic Tooth Movement.
Crosstalk between microRNA-21-5p and the transcription factor Dec1 maintains osteoblast function.
Title: Crosstalk between microRNA-21-5p and the transcription factor Dec1 maintains osteoblast function.
A novel role of helix-loop-helix transcriptional factor Bhlhe40 in osteoclast activation.
Title: A novel role of helix-loop-helix transcriptional factor Bhlhe40 in osteoclast activation.
DEC1 promotes progression of Helicobacter pylori-positive gastric cancer by regulating Akt/NF-kappaB pathway.
Title: DEC1 promotes progression of Helicobacter pylori-positive gastric cancer by regulating Akt/NF-κB pathway.
Bhlhe40 function in activated B and TFH cells restrains the GC reaction and prevents lymphomagenesis.
Title: Bhlhe40 function in activated B and TFH cells restrains the GC reaction and prevents lymphomagenesis.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (9) 1 citation
Endonuclease-mediated (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	ISO Inferred from Sequence Orthology more info
enables MRF binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables bHLH transcription factor binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in circadian regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in circadian regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in circadian regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in circadian rhythm	IEP Inferred from Expression Pattern more info	PubMed
involved_in circadian rhythm	ISO Inferred from Sequence Orthology more info
involved_in entrainment of circadian clock by photoperiod	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of circadian rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to light stimulus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within rhythmic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: class E basic helix-loop-helix protein 40

Names: E47 interaction protein 1; basic helix-loop-helix domain containing, class B2; class B basic helix-loop-helix protein 2; cytokine response gene 8; differentially expressed in chondrocytes protein 1; eip1 (E47 interaction protein 1); stimulated by retinoic acid gene 13 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_011498.4 → NP_035628.1 class E basic helix-loop-helix protein 40

See identical proteins and their annotated locations for NP_035628.1

Status: VALIDATED

Source sequence(s)

AC153593

Consensus CDS

CCDS20400.1

UniProtKB/Swiss-Prot

O35185, P97289

UniProtKB/TrEMBL

Q542A5

Related

ENSMUSP00000032194.5, ENSMUST00000032194.11

Conserved Domains (2) summary

smart00511
Location:140 → 184

ORANGE; Orange domain

cd19749
Location:40 → 129

bHLH-O_DEC1; basic helix-loop-helix-orange (bHLH-O) domain found in differentially expressed in chondrocytes protein 1 (DEC1) and similar proteins