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    HELT helt bHLH transcription factor [ Homo sapiens (human) ]

    Gene ID: 391723, updated on 2-Oct-2018

    Summary

    Official Symbol
    HELTprovided by HGNC
    Official Full Name
    helt bHLH transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:33783
    See related
    Ensembl:ENSG00000187821 MIM:617546; Vega:OTTHUMG00000160484
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Mgn; HESL; HCM1228; bHLHb44
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See HELT in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (185018841..185021265)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (185940001..185941958)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene microRNA 4455 Neighboring gene long intergenic non-protein coding RNA 2437 Neighboring gene long intergenic non-protein coding RNA 2436 Neighboring gene uncharacterized LOC105377588 Neighboring gene solute carrier family 25 member 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    GABAergic neuron differentiation in basal ganglia IEA
    Inferred from Electronic Annotation
    more info
     
    Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    blood vessel development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    central nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    multicellular organism aging IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neurogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    suckling behavior IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    hairy and enhancer of split-related protein HELT
    Names
    HES/HEY-like transcription factor
    Hes-like transcription factor
    Hey-like transcription factor
    Hey-like transcriptional repressor
    Megane bHLH factor

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001300781.1NP_001287710.1  hairy and enhancer of split-related protein HELT isoform 1

      See identical proteins and their annotated locations for NP_001287710.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC140795, BC144567
      Consensus CDS
      CCDS75214.1
      UniProtKB/Swiss-Prot
      A6NFD8
      Related
      ENSP00000426033.1, OTTHUMP00000218305, ENST00000515777.5, OTTHUMT00000360792
      Conserved Domains (3) summary
      pfam00010
      Location:1366
      HLH; Helix-loop-helix DNA-binding domain
      pfam07527
      Location:87127
      Hairy_orange; Hairy Orange
      cl26386
      Location:133207
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    2. NM_001300782.1NP_001287711.1  hairy and enhancer of split-related protein HELT isoform 2

      See identical proteins and their annotated locations for NP_001287711.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      BC140795
      Consensus CDS
      CCDS75215.1
      UniProtKB/Swiss-Prot
      A6NFD8
      Related
      ENSP00000422140.1, OTTHUMP00000218304, ENST00000505610.5, OTTHUMT00000360791
      Conserved Domains (3) summary
      pfam00010
      Location:1366
      HLH; Helix-loop-helix DNA-binding domain
      pfam07527
      Location:86126
      Hairy_orange; Hairy Orange
      cl26386
      Location:132206
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      185018841..185021265
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008186.1XP_016863675.1  hairy and enhancer of split-related protein HELT isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001029887.1: Suppressed sequence

      Description
      NM_001029887.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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