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    HES7 hes family bHLH transcription factor 7 [ Homo sapiens (human) ]

    Gene ID: 84667, updated on 5-Jul-2015
    Official Symbol
    HES7provided by HGNC
    Official Full Name
    hes family bHLH transcription factor 7provided by HGNC
    Primary source
    HGNC:HGNC:15977
    See related
    Ensembl:ENSG00000179111; HPRD:09729; MIM:608059; Vega:OTTHUMG00000178316
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCDO4; bHLHb37
    Summary
    This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
    Orthologs
    See HES7 in Epigenomics, MapViewer
    Location:
    17p13.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 17 NC_000017.11 (8120590..8125739, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8023908..8027410, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371522 Neighboring gene transfer RNA-Gln (CTG) 1-2 Neighboring gene transfer RNA-Leu (TAG) 1-1 Neighboring gene transfer RNA-Arg (TCT) 2-1 Neighboring gene transfer RNA-Gly (GCC) 2-4 Neighboring gene uncharacterized LOC105376799 Neighboring gene transfer RNA-Ser (CGA) 1-1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    mesoderm development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    post-anal tail morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Preferred Names
    transcription factor HES-7
    Names
    bHLH factor Hes7
    class B basic helix-loop-helix protein 37
    hHes7
    hairy and enhancer of split 7

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015816.1 RefSeqGene

      Range
      5001..8503
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001165967.1NP_001159439.1  transcription factor HES-7 isoform 1

      See identical proteins and their annotated locations for NP_001159439.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC129492, BC039887, BI259590
      Consensus CDS
      CCDS54085.1
      UniProtKB/Swiss-Prot
      Q9BYE0
      Related
      ENSP00000446205, OTTHUMP00000259085, ENST00000541682, OTTHUMT00000441478
      Conserved Domains (1) summary
      cd00083
      Location:1473
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    2. NM_032580.3NP_115969.2  transcription factor HES-7 isoform 2

      See identical proteins and their annotated locations for NP_115969.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) lacks a five amino acid segment, compared to isoform 1.
      Source sequence(s)
      AB049064, AC129492, BC039887, BI259590
      Consensus CDS
      CCDS42258.1
      UniProtKB/Swiss-Prot
      Q9BYE0
      Conserved Domains (1) summary
      cd00083
      Location:1473
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

      Range
      8120590..8125739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524038.1XP_011522340.1  

      Conserved Domains (1) summary
      cd00083
      Location:49108
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    2. XM_011524041.1XP_011522343.1  

      Conserved Domains (1) summary
      cd00083
      Location:46102
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    3. XM_011524040.1XP_011522342.1  

      See identical proteins and their annotated locations for XP_011522342.1

      Conserved Domains (1) summary
      cd00083
      Location:49105
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    4. XM_011524039.1XP_011522341.1  

      See identical proteins and their annotated locations for XP_011522341.1

      Conserved Domains (1) summary
      cd00083
      Location:49105
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    5. XM_011524042.1XP_011522344.1  

      Conserved Domains (1) summary
      cd00083
      Location:359
      HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      8032430..8035932
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)