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

Gene ID: 391723, updated on 5-Aug-2022

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; 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 part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See HELT in Genome Data Viewer
Location:
4q35.1
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185018490..185020953)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188361903..188364366)
105.20220307 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 11336 Neighboring gene long intergenic non-protein coding RNA 2437 Neighboring gene long intergenic non-protein coding RNA 2436 Neighboring gene uncharacterized LOC105377588 Neighboring gene Sharpr-MPRA regulatory region 4736

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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
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
PubMed 
involved_in central nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism aging 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
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of transcription regulator 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)

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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_001300781.2NP_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, B7ZMI8
    Related
    ENSP00000426033.1, ENST00000515777.6
    Conserved Domains (3) summary
    PRK14951
    Location:133207
    PRK14951; DNA polymerase III subunits gamma and tau; Provisional
    cd11408
    Location:1469
    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:87127
    Hairy_orange; Hairy Orange
  2. NM_001300782.2NP_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:132206
    PRK14951; DNA polymerase III subunits gamma and tau; Provisional
    cd11408
    Location:1469
    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:86126
    Hairy_orange; Hairy Orange

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_017008186.2XP_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)

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.