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Q8NDY6

- BHE23_HUMAN

UniProt

Q8NDY6 - BHE23_HUMAN

Protein

Class E basic helix-loop-helix protein 23

Gene

BHLHE23

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    May function as transcriptional repressor. May modulate the expression of genes required for the differentiation and/or maintenance of pancreatic and neuronal cell types. May be important for rod bipolar cell maturation By similarity.By similarity

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW

    GO - Biological processi

    1. negative regulation of retinal cell programmed cell death Source: Ensembl
    2. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    3. post-embryonic eye morphogenesis Source: Ensembl
    4. retinal rod cell development Source: Ensembl
    5. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Class E basic helix-loop-helix protein 23
    Short name:
    bHLHe23
    Alternative name(s):
    Class B basic helix-loop-helix protein 4
    Short name:
    bHLHb4
    Gene namesi
    Name:BHLHE23
    Synonyms:BHLHB4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:16093. BHLHE23.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164716615.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 225225Class E basic helix-loop-helix protein 23PRO_0000245526Add
    BLAST

    Proteomic databases

    PaxDbiQ8NDY6.
    PRIDEiQ8NDY6.

    PTM databases

    PhosphoSiteiQ8NDY6.

    Expressioni

    Gene expression databases

    BgeeiQ8NDY6.
    GenevestigatoriQ8NDY6.

    Organism-specific databases

    HPAiHPA030575.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000359371.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NDY6.
    SMRiQ8NDY6. Positions 100-158.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini100 – 15455bHLHPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi78 – 11235Arg-richAdd
    BLAST

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG308077.
    HOGENOMiHOG000060094.
    HOVERGENiHBG065837.
    InParanoidiQ8NDY6.
    KOiK09086.
    OMAiLPGCPEK.
    OrthoDBiEOG7GQXWR.
    PhylomeDBiQ8NDY6.
    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.

    Q8NDY6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAELKSLSGD AYLALSHGYA AAAAGLAYGA AREPEAARGY GTPGPGGDLP    50
    AAPAPRAPAQ AAESSGEQSG DEDDAFEQRR RRRGPGSAAD GRRRPREQRS 100
    LRLSINARER RRMHDLNDAL DGLRAVIPYA HSPSVRKLSK IATLLLAKNY 150
    ILMQAQALDE MRRLVAFLNQ GQGLAAPVNA APLTPFGQAT VCPFSAGAAL 200
    GPCPDKCAAF SGTPSALCKH CHEKP 225
    Length:225
    Mass (Da):23,665
    Last modified:October 1, 2002 - v1
    Checksum:i77B5720A3CE42E85
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL121673 Genomic DNA. Translation: CAD37449.1.
    CH471077 Genomic DNA. Translation: EAW75311.1.
    BC137288 mRNA. Translation: AAI37289.1.
    BC137308 mRNA. Translation: AAI37309.1.
    BK000274 mRNA. Translation: DAA01054.1.
    RefSeqiNP_542173.2. NM_080606.3.
    UniGeneiHs.551230.

    Genome annotation databases

    EnsembliENST00000370346; ENSP00000359371; ENSG00000125533.
    GeneIDi128408.
    KEGGihsa:128408.
    UCSCiuc002yeb.2. human.

    Polymorphism databases

    DMDMi74751238.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL121673 Genomic DNA. Translation: CAD37449.1 .
    CH471077 Genomic DNA. Translation: EAW75311.1 .
    BC137288 mRNA. Translation: AAI37289.1 .
    BC137308 mRNA. Translation: AAI37309.1 .
    BK000274 mRNA. Translation: DAA01054.1 .
    RefSeqi NP_542173.2. NM_080606.3.
    UniGenei Hs.551230.

    3D structure databases

    ProteinModelPortali Q8NDY6.
    SMRi Q8NDY6. Positions 100-158.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000359371.

    PTM databases

    PhosphoSitei Q8NDY6.

    Polymorphism databases

    DMDMi 74751238.

    Proteomic databases

    PaxDbi Q8NDY6.
    PRIDEi Q8NDY6.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000370346 ; ENSP00000359371 ; ENSG00000125533 .
    GeneIDi 128408.
    KEGGi hsa:128408.
    UCSCi uc002yeb.2. human.

    Organism-specific databases

    CTDi 128408.
    GeneCardsi GC20M061637.
    HGNCi HGNC:16093. BHLHE23.
    HPAi HPA030575.
    MIMi 609331. gene.
    neXtProti NX_Q8NDY6.
    PharmGKBi PA164716615.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG308077.
    HOGENOMi HOG000060094.
    HOVERGENi HBG065837.
    InParanoidi Q8NDY6.
    KOi K09086.
    OMAi LPGCPEK.
    OrthoDBi EOG7GQXWR.
    PhylomeDBi Q8NDY6.
    TreeFami TF322733.

    Miscellaneous databases

    NextBioi 82341.
    PROi Q8NDY6.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NDY6.
    Genevestigatori Q8NDY6.

    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. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    4. "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 nameiBHE23_HUMAN
    AccessioniPrimary (citable) accession number: Q8NDY6
    Secondary accession number(s): B2RP69
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 11, 2006
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 90 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 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3