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

Gene ID: 391723, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:33783
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
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in anterior/posterior pattern specification; regulation of neurogenesis; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; regulation of transcription by RNA polymerase II; and suckling behavior. Predicted to be located in chromatin. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See HELT in Genome Data Viewer
Location:
4q35.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185018490..185020953)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188361903..188364366)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (185939644..185942107)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4878 Neighboring gene microRNA 4455 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:185878684-185878847 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185882462-185882962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185882963-185883463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185886653-185887153 Neighboring gene Sharpr-MPRA regulatory region 11336 Neighboring gene long intergenic non-protein coding RNA 2437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185938894-185939474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185939475-185940053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185940054-185940633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185941348-185942275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185942276-185943202 Neighboring gene long intergenic non-protein coding RNA 2436 Neighboring gene uncharacterized LOC105377588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186030634-186031272 Neighboring gene Sharpr-MPRA regulatory region 4736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186049861-186050404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15847 Neighboring gene solute carrier family 25 member 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification and characterization of human HESL, rat Hesl and rainbow trout hesl genes in silico. Katoh M, et al. Int J Mol Med, 2004 Oct. PMID 15375612
  2. Helt, a novel basic-helix-loop-helix transcriptional repressor expressed in the developing central nervous system. Nakatani T, et al. J Biol Chem, 2004 Apr 16. PMID 14764602
  3. Molecular characterization, structure and developmental expression of Megane bHLH factor. Guimera J, et al. Gene, 2006 Aug 1. PMID 16644143
  4. Identification of a novel basic helix-loop-helix gene, Heslike, and its role in GABAergic neurogenesis. Miyoshi G, et al. J Neurosci, 2004 Apr 7. PMID 15071116, Free PMC Article
  5. Helt determines GABAergic over glutamatergic neuronal fate by repressing Ngn genes in the developing mesencephalon. Nakatani T, et al. Development, 2007 Aug. PMID 17611227

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Activation of DPF3a upon hypertrophic stimuli in cardiac hypertrophy switches cardiac fetal gene expression from being silenced by HEY to being activated by BRG1.
    Title: Phosphorylation of the chromatin remodeling factor DPF3a induces cardiac hypertrophy through releasing HEY repressors from DNA.
  2. identified and characterized human HES-like (HESL), rat hesl, and rainbow trout hesl genes by using bioinformatics
    Title: Identification and characterization of human HESL, rat Hesl and rainbow trout hesl genes in silico.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in GABAergic neuron differentiation in basal ganglia IEA
Inferred from Electronic Annotation
more info
  
involved_in anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in central nervous system development IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in post-embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in suckling behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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)

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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_001300781.2 → NP_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

    Source sequence(s)
    AC093824
    Consensus CDS
    CCDS75214.1
    UniProtKB/Swiss-Prot
    A6NFD8, B2RTS5, B7ZMI7, B7ZMI8
    Related
    ENSP00000426033.1, ENST00000515777.6
    Conserved Domains (3) summary
    PRK14951
    Location:133 → 207
    PRK14951; DNA polymerase III subunits gamma and tau; Provisional
    cd11408
    Location:14 → 69
    bHLH-O_HELT; basic helix-loop-helix-orange (bHLH-O) domain found in hairy and enhancer of split-related protein HELT and similar proteins
    pfam07527
    Location:87 → 127
    Hairy_orange; Hairy Orange

  2. NM_001300782.2 → NP_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

    Source sequence(s)
    AC093824
    Consensus CDS
    CCDS75215.1
    UniProtKB/Swiss-Prot
    A6NFD8
    Related
    ENSP00000422140.1, ENST00000505610.5
    Conserved Domains (3) summary
    PRK14951
    Location:132 → 206
    PRK14951; DNA polymerase III subunits gamma and tau; Provisional
    cd11408
    Location:14 → 69
    bHLH-O_HELT; basic helix-loop-helix-orange (bHLH-O) domain found in hairy and enhancer of split-related protein HELT and similar proteins
    pfam07527
    Location:86 → 126
    Hairy_orange; Hairy Orange

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    185018490..185020953
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008186.2 → XP_016863675.2  hairy and enhancer of split-related protein HELT isoform X1

    Related
    ENSP00000343464.4, ENST00000338875.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    188361903..188364366
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349977.1 → XP_054205952.1  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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NFD8.2 GenPept UniProtKB/Swiss-Prot:A6NFD8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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