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Q9C0J9

- BHE41_HUMAN

UniProt

Q9C0J9 - BHE41_HUMAN

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
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    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 binding Source: UniProtKB
    6. protein heterodimerization activity Source: BHF-UCL
    7. protein homodimerization activity Source: BHF-UCL
    8. RNA polymerase II activating transcription factor binding Source: BHF-UCL
    9. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: BHF-UCL
    10. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
    11. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    12. RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription Source: BHF-UCL
    13. 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

    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-SubCell

    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

    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.
    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

    MDEGIPHLQE RQLLEHRDFI GLDYSSLYMC KPKRSMKRDD TKDTYKLPHR    50
    LIEKKRRDRI NECIAQLKDL LPEHLKLTTL GHLEKAVVLE LTLKHLKALT 100
    ALTEQQHQKI IALQNGERSL KSPIQSDLDA FHSGFQTCAK EVLQYLSRFE 150
    SWTPREPRCV QLINHLHAVA TQFLPTPQLL TQQVPLSKGT GAPSAAGSAA 200
    APCLERAGQK LEPLAYCVPV IQRTQPSAEL AAENDTDTDS GYGGEAEARP 250
    DREKGKGAGA SRVTIKQEPP GEDSPAPKRM KLDSRGGGSG GGPGGGAAAA 300
    AAALLGPDPA AAAALLRPDA ALLSSLVAFG GGGGAPFPQP AAAAAPFCLP 350
    FCFLSPSAAA AYVQPFLDKS GLEKYLYPAA AAAPFPLLYP GIPAPAAAAA 400
    AAAAAAAAAA AFPCLSSVLS PPPEKAGAAA ATLLPHEVAP LGAPHPQHPH 450
    GRTHLPFAGP REPGNPESSA QEDPSQPGKE AP 482
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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

    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.
    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

    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 1, 2014
    This is version 119 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