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Q8NFJ8

- BHE22_HUMAN

UniProt

Q8NFJ8 - BHE22_HUMAN

Protein

Class E basic helix-loop-helix protein 22

Gene

BHLHE22

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    Inhibits DNA binding of TCF3/E47 homodimers and TCF3 (E47)/NEUROD1 heterodimers and acts as a strong repressor of Neurod1 and Myod-responsive genes, probably by heterodimerization with class a basic helix-loop-helix factors. Despite the presence of an intact basic domain, does not bind to DNA By similarity.By similarity

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: Ensembl

    GO - Biological processi

    1. anterior commissure morphogenesis Source: Ensembl
    2. cerebral cortex regionalization Source: Ensembl
    3. corpus callosum morphogenesis Source: Ensembl
    4. corticospinal tract morphogenesis Source: Ensembl
    5. negative regulation of transcription, DNA-templated Source: Ensembl
    6. retinal bipolar neuron differentiation Source: Ensembl

    Keywords - Molecular functioni

    Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Class E basic helix-loop-helix protein 22
    Short name:
    bHLHe22
    Alternative name(s):
    Class B basic helix-loop-helix protein 5
    Short name:
    bHLHb5
    Trinucleotide repeat-containing gene 20 protein
    Gene namesi
    Name:BHLHE22
    Synonyms:BHLHB5, TNRC20
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:11963. BHLHE22.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA36650.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 381381Class E basic helix-loop-helix protein 22PRO_0000274285Add
    BLAST

    Proteomic databases

    PaxDbiQ8NFJ8.
    PRIDEiQ8NFJ8.

    PTM databases

    PhosphoSiteiQ8NFJ8.

    Expressioni

    Tissue specificityi

    Brain-specific, with the highest expression in the cerebellum.1 Publication

    Gene expression databases

    BgeeiQ8NFJ8.
    GenevestigatoriQ8NFJ8.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000318799.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NFJ8.
    SMRiQ8NFJ8. Positions 244-305.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini242 – 29655bHLHPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi56 – 605Poly-Ser
    Compositional biasi72 – 225154Gly-richAdd
    BLAST
    Compositional biasi208 – 23427Ser-richAdd
    BLAST
    Compositional biasi315 – 35743Ala-richAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG308077.
    InParanoidiQ8NFJ8.
    KOiK09086.
    OMAiMERGMHL.
    OrthoDBiEOG7GQXWR.
    PhylomeDBiQ8NFJ8.
    TreeFamiTF322733.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8NFJ8-1 [UniParc]FASTAAdd to Basket

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    MERGMHLGAA AAGEDDLFLH KSLSASTSKR LEAAFRSTPP GMDLSLAPPP    50
    RERPASSSSS PLGCFEPADP EGAGLLLPPP GGGGGGSAGS GGGGGGGVGV 100
    PGLLVGSAGV GGDPSLSSLP AGAALCLKYG ESASRGSVAE SSGGEQSPDD 150
    DSDGRCELVL RAGVADPRAS PGAGGGGAKA AEGCSNAHLH GGASVPPGGL 200
    GGGGGGGSSS GSSGGGGGSG SGSGGSSSSS SSSSKKSKEQ KALRLNINAR 250
    ERRRMHDLND ALDELRAVIP YAHSPSVRKL SKIATLLLAK NYILMQAQAL 300
    EEMRRLVAYL NQGQAISAAS LPSSAAAAAA AAALHPALGA YEQAAGYPFS 350
    AGLPPAASCP EKCALFNSVS SSLCKQCTEK P 381
    Length:381
    Mass (Da):36,997
    Last modified:October 1, 2002 - v1
    Checksum:i7B17A9BD5C7F8569
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti28 – 281S → A.
    Corresponds to variant rs7016250 [ dbSNP | Ensembl ].
    VAR_061255

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF504925 Genomic DNA. Translation: AAM28881.1.
    BK000273 mRNA. Translation: DAA01053.1.
    CCDSiCCDS6179.1.
    RefSeqiNP_689627.1. NM_152414.4.
    UniGeneiHs.388788.
    Hs.591870.
    Hs.745052.

    Genome annotation databases

    EnsembliENST00000321870; ENSP00000318799; ENSG00000180828.
    GeneIDi27319.
    KEGGihsa:27319.
    UCSCiuc003xvi.3. human.

    Polymorphism databases

    DMDMi74751284.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF504925 Genomic DNA. Translation: AAM28881.1 .
    BK000273 mRNA. Translation: DAA01053.1 .
    CCDSi CCDS6179.1.
    RefSeqi NP_689627.1. NM_152414.4.
    UniGenei Hs.388788.
    Hs.591870.
    Hs.745052.

    3D structure databases

    ProteinModelPortali Q8NFJ8.
    SMRi Q8NFJ8. Positions 244-305.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000318799.

    PTM databases

    PhosphoSitei Q8NFJ8.

    Polymorphism databases

    DMDMi 74751284.

    Proteomic databases

    PaxDbi Q8NFJ8.
    PRIDEi Q8NFJ8.

    Protocols and materials databases

    DNASUi 27319.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000321870 ; ENSP00000318799 ; ENSG00000180828 .
    GeneIDi 27319.
    KEGGi hsa:27319.
    UCSCi uc003xvi.3. human.

    Organism-specific databases

    CTDi 27319.
    GeneCardsi GC08P065492.
    H-InvDB HIX0007544.
    HGNCi HGNC:11963. BHLHE22.
    MIMi 613483. gene.
    neXtProti NX_Q8NFJ8.
    PharmGKBi PA36650.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG308077.
    InParanoidi Q8NFJ8.
    KOi K09086.
    OMAi MERGMHL.
    OrthoDBi EOG7GQXWR.
    PhylomeDBi Q8NFJ8.
    TreeFami TF322733.

    Miscellaneous databases

    GenomeRNAii 27319.
    NextBioi 50328.
    PROi Q8NFJ8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NFJ8.
    Genevestigatori Q8NFJ8.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Functional and structural characterization of the human gene BHLHB5, encoding a basic helix-loop-helix transcription factor."
      Xu Z.-P., Dutra A., Stellrecht C.M., Wu C., Piatigorsky J., Saunders G.F.
      Genomics 80:311-318(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
    2. "Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening."
      McLellan A.S., Langlands K., Kealey T.
      Mech. Dev. 119:S285-S291(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION.

    Entry informationi

    Entry nameiBHE22_HUMAN
    AccessioniPrimary (citable) accession number: Q8NFJ8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 6, 2007
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 89 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 8
      Human chromosome 8: 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