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Q9C0J9

- BHE41_HUMAN

UniProt

Q9C0J9 - BHE41_HUMAN

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Protein

Class E basic helix-loop-helix protein 41

Gene

BHLHE41

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.6 Publications

GO - Molecular functioni

  1. bHLH transcription factor binding Source: BHF-UCL
  2. E-box binding Source: BHF-UCL
  3. histone deacetylase binding Source: BHF-UCL
  4. MRF binding Source: BHF-UCL
  5. protein heterodimerization activity Source: BHF-UCL
  6. protein homodimerization activity Source: BHF-UCL
  7. RNA polymerase II activating transcription factor binding Source: BHF-UCL
  8. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: BHF-UCL
  9. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
  10. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: BHF-UCL
  11. RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
  12. transcription corepressor activity Source: UniProtKB

GO - Biological processi

  1. cell differentiation Source: UniProtKB
  2. cell proliferation Source: UniProtKB
  3. circadian regulation of gene expression Source: Ensembl
  4. negative regulation of myotube differentiation Source: BHF-UCL
  5. negative regulation of transcription, DNA-templated Source: UniProtKB
  6. negative regulation of transcription by competitive promoter binding Source: BHF-UCL
  7. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  8. organ morphogenesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Biological rhythms, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_111118. BMAL1:CLOCK,NPAS2 activates circadian gene expression.
SignaLinkiQ9C0J9.

Names & Taxonomyi

Protein namesi
Recommended name:
Class E basic helix-loop-helix protein 41
Short name:
bHLHe41
Alternative name(s):
Class B basic helix-loop-helix protein 3
Short name:
bHLHb3
Differentially expressed in chondrocytes protein 2
Short name:
hDEC2
Enhancer-of-split and hairy-related protein 1
Short name:
SHARP-1
Gene namesi
Name:BHLHE41
Synonyms:BHLHB3, DEC2, SHARP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:16617. BHLHE41.

Subcellular locationi

Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi70 – 712LL → AA: Abolishes RXRA repression. 1 Publication

Organism-specific databases

MIMi612975. phenotype.
PharmGKBiPA164716636.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 482482Class E basic helix-loop-helix protein 41PRO_0000127147Add
BLAST

Proteomic databases

MaxQBiQ9C0J9.
PaxDbiQ9C0J9.
PRIDEiQ9C0J9.

PTM databases

PhosphoSiteiQ9C0J9.

Expressioni

Tissue specificityi

Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney.

Gene expression databases

BgeeiQ9C0J9.
GenevestigatoriQ9C0J9.

Interactioni

Subunit structurei

Homodimer. Heterodimer with BHLHE40/DEC1. Interacts with CIART and ARNTL/BMAL1 (By similarity). Interacts with RXRA.By similarity1 Publication

Protein-protein interaction databases

BioGridi122654. 11 interactions.
DIPiDIP-59904N.
STRINGi9606.ENSP00000242728.

Structurei

3D structure databases

ProteinModelPortaliQ9C0J9.
SMRiQ9C0J9. Positions 36-99.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini44 – 9956bHLHPROSITE-ProRule annotationAdd
BLAST
Domaini131 – 16636OrangePROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni67 – 715Necessary for its interaction with RXRA and repressor activity towards RXRA

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi297 – 431135Ala/Gly-richAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation
Contains 1 Orange domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG235394.
GeneTreeiENSGT00510000046898.
HOGENOMiHOG000234381.
HOVERGENiHBG050685.
InParanoidiQ9C0J9.
KOiK03730.
OMAiAYKLPHR.
OrthoDBiEOG75XGKZ.
PhylomeDBiQ9C0J9.
TreeFamiTF330859.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
IPR003650. Orange.
IPR018352. Orange_subgr.
[Graphical view]
PfamiPF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
SM00511. ORANGE. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9C0J9-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MDEGIPHLQE RQLLEHRDFI GLDYSSLYMC KPKRSMKRDD TKDTYKLPHR
60 70 80 90 100
LIEKKRRDRI NECIAQLKDL LPEHLKLTTL GHLEKAVVLE LTLKHLKALT
110 120 130 140 150
ALTEQQHQKI IALQNGERSL KSPIQSDLDA FHSGFQTCAK EVLQYLSRFE
160 170 180 190 200
SWTPREPRCV QLINHLHAVA TQFLPTPQLL TQQVPLSKGT GAPSAAGSAA
210 220 230 240 250
APCLERAGQK LEPLAYCVPV IQRTQPSAEL AAENDTDTDS GYGGEAEARP
260 270 280 290 300
DREKGKGAGA SRVTIKQEPP GEDSPAPKRM KLDSRGGGSG GGPGGGAAAA
310 320 330 340 350
AAALLGPDPA AAAALLRPDA ALLSSLVAFG GGGGAPFPQP AAAAAPFCLP
360 370 380 390 400
FCFLSPSAAA AYVQPFLDKS GLEKYLYPAA AAAPFPLLYP GIPAPAAAAA
410 420 430 440 450
AAAAAAAAAA AFPCLSSVLS PPPEKAGAAA ATLLPHEVAP LGAPHPQHPH
460 470 480
GRTHLPFAGP REPGNPESSA QEDPSQPGKE AP
Length:482
Mass (Da):50,498
Last modified:June 1, 2001 - v1
Checksum:i2BECDC2FDEB7CE14
GO

Polymorphismi

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti384 – 3841P → R Associated with short sleep phenotype. 1 Publication
VAR_063259

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB044088 mRNA. Translation: BAB21502.1.
EF015896 Genomic DNA. Translation: ABM64207.1.
CH471094 Genomic DNA. Translation: EAW96527.1.
CCDSiCCDS8706.1.
PIRiJC7583.
RefSeqiNP_110389.1. NM_030762.2.
UniGeneiHs.177841.

Genome annotation databases

EnsembliENST00000242728; ENSP00000242728; ENSG00000123095.
GeneIDi79365.
KEGGihsa:79365.
UCSCiuc001rhb.3. human.

Polymorphism databases

DMDMi20137459.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB044088 mRNA. Translation: BAB21502.1 .
EF015896 Genomic DNA. Translation: ABM64207.1 .
CH471094 Genomic DNA. Translation: EAW96527.1 .
CCDSi CCDS8706.1.
PIRi JC7583.
RefSeqi NP_110389.1. NM_030762.2.
UniGenei Hs.177841.

3D structure databases

ProteinModelPortali Q9C0J9.
SMRi Q9C0J9. Positions 36-99.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122654. 11 interactions.
DIPi DIP-59904N.
STRINGi 9606.ENSP00000242728.

PTM databases

PhosphoSitei Q9C0J9.

Polymorphism databases

DMDMi 20137459.

Proteomic databases

MaxQBi Q9C0J9.
PaxDbi Q9C0J9.
PRIDEi Q9C0J9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000242728 ; ENSP00000242728 ; ENSG00000123095 .
GeneIDi 79365.
KEGGi hsa:79365.
UCSCi uc001rhb.3. human.

Organism-specific databases

CTDi 79365.
GeneCardsi GC12M026272.
HGNCi HGNC:16617. BHLHE41.
MIMi 606200. gene.
612975. phenotype.
neXtProti NX_Q9C0J9.
PharmGKBi PA164716636.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG235394.
GeneTreei ENSGT00510000046898.
HOGENOMi HOG000234381.
HOVERGENi HBG050685.
InParanoidi Q9C0J9.
KOi K03730.
OMAi AYKLPHR.
OrthoDBi EOG75XGKZ.
PhylomeDBi Q9C0J9.
TreeFami TF330859.

Enzyme and pathway databases

Reactomei REACT_111118. BMAL1:CLOCK,NPAS2 activates circadian gene expression.
SignaLinki Q9C0J9.

Miscellaneous databases

ChiTaRSi BHLHE41. human.
GeneWikii BHLHB3.
GenomeRNAii 79365.
NextBioi 68333.
PROi Q9C0J9.
SOURCEi Search...

Gene expression databases

Bgeei Q9C0J9.
Genevestigatori Q9C0J9.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
IPR003650. Orange.
IPR018352. Orange_subgr.
[Graphical view ]
Pfami PF07527. Hairy_orange. 1 hit.
PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
SM00511. ORANGE. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
PS51054. ORANGE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of DEC2, a new member of basic helix-loop-helix proteins."
    Fujimoto K., Shen M., Noshiro M., Matsubara K., Shingu S., Honda K., Yoshida E., Suardita K., Matsuda Y., Kato Y.
    Biochem. Biophys. Res. Commun. 280:164-171(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. NHLBI resequencing and genotyping service (RS&G)
    Submitted (SEP-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The basic helix-loop-helix protein, SHARP-1, represses transcription by a histone deacetylase-dependent and histone deacetylase-independent mechanism."
    Garriga-Canut M., Roopra A., Buckley N.J.
    J. Biol. Chem. 276:14821-14828(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  5. Cited for: FUNCTION.
  6. "DNA binding, but not interaction with Bmal1, is responsible for DEC1-mediated transcription regulation of the circadian gene mPer1."
    Li Y., Song X., Ma Y., Liu J., Yang D., Yan B.
    Biochem. J. 382:895-904(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, HETERODIMERIZATION WITH BHLHE40/DEC1.
  7. "Functional analysis of the basic helix-loop-helix transcription factor DEC1 in circadian regulation. Interaction with BMAL1."
    Sato F., Kawamoto T., Fujimoto K., Noshiro M., Honda K.K., Honma S., Honma K., Kato Y.
    Eur. J. Biochem. 271:4409-4419(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  8. Cited for: FUNCTION.
  9. "The basic helix-loop-helix proteins differentiated embryo chondrocyte (DEC) 1 and DEC2 function as corepressors of retinoid X receptors."
    Cho Y., Noshiro M., Choi M., Morita K., Kawamoto T., Fujimoto K., Kato Y., Makishima M.
    Mol. Pharmacol. 76:1360-1369(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH RXRA, MUTAGENESIS OF 70-LEU-LEU-71.
  10. "The transcriptional repressor DEC2 regulates sleep length in mammals."
    He Y., Jones C.R., Fujiki N., Xu Y., Guo B., Holder J.L. Jr., Rossner M.J., Nishino S., Fu Y.H.
    Science 325:866-870(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ARG-384, ASSOCIATION OF VARIANT ARG-384 WITH SHORT SLEEP PHENOTYPE.

Entry informationi

Entry nameiBHE41_HUMAN
AccessioniPrimary (citable) accession number: Q9C0J9
Secondary accession number(s): A2I2N8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 5, 2002
Last sequence update: June 1, 2001
Last modified: October 29, 2014
This is version 120 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3