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BHLHE40
HPA
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  • BHLHE40
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

BHLHE40
Synonyms BHLHB2, Clast5, DEC1, SHARP2, STRA13
Gene descriptioni

Full gene name according to HGNC.

Basic helix-loop-helix family member e40
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Transcription factors
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 3
Cytoband p26.1
Chromosome location (bp) 4979437 - 4985323
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

1
Ensembl ENSG00000134107 (version 109)
Entrez gene 8553
HGNC HGNC:1046
UniProt O14503 (UniProt - Evidence at protein level)
neXtProt NX_O14503
GeneCards BHLHE40
Antibodypedia BHLHE40 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes 1, 2. 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) 3. Both these loops are interlocked as it represses the expression of PER1/2 and in turn is repressed by PER1/2 and CRY1/2 4. Represses the activity of the circadian transcriptional activator: CLOCK-BMAL1|BMAL2 heterodimer by competing for the binding to E-box elements (5'-CACGTG-3') found within the promoters of its target genes 5. Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2 6. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA and NR1H3/LXRA transactivation activity 7. May be involved in the regulation of chondrocyte differentiation via the cAMP pathway 8. Represses the transcription of NR0B2 and attentuates the transactivation of NR0B2 by the CLOCK-BMAL1 complex 9. Drives the circadian rhythm of blood pressure through transcriptional repression of ATP1B1 in the cardiovascular system 10.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

DNA-binding, Repressor
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Biological rhythms, Transcription, Transcription regulation
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
BHLHE40-201
ENSP00000256495
ENST00000256495
O14503
[Direct mapping] Class E basic helix-loop-helix protein 40
Show all
Q6IB83
[Target identity:100%; Query identity:100%] BHLHB2 protein; Basic helix-loop-helix domain containing, class B, 2, isoform CRA_a; Basic helix-loop-helix domain-containing; cDNA, FLJ92873, Homo sapiens basic helix-loop-helix domain containing, class B, 2(BHLHB2), mRNA
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Basic domains
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000785 [chromatin]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001227 [DNA-binding transcription repressor activity, RNA polymerase II-specific]
GO:0003677 [DNA binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007623 [circadian rhythm]
GO:0009952 [anterior/posterior pattern specification]
GO:0016604 [nuclear body]
GO:0019904 [protein domain specific binding]
GO:0032922 [circadian regulation of gene expression]
GO:0042752 [regulation of circadian rhythm]
GO:0042803 [protein homodimerization activity]
GO:0043153 [entrainment of circadian clock by photoperiod]
GO:0043425 [bHLH transcription factor binding]
GO:0043426 [MRF binding]
GO:0043433 [negative regulation of DNA-binding transcription factor activity]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0046982 [protein heterodimerization activity]
GO:0046983 [protein dimerization activity]
GO:0048511 [rhythmic process]
GO:0050767 [regulation of neurogenesis]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
GO:0070888 [E-box binding]
GO:1990837 [sequence-specific double-stranded DNA binding]
Show all
412 aa
45.5 kDa
No 0

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