Helt helt bHLH transcription factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Heltprovided by MGI
Official Full Name: helt bHLH transcription factorprovided by MGI
Primary source: MGI:MGI:3040955
See related: Ensembl:ENSMUSG00000047171 AllianceGenome:MGI:3040955
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mgn; Hesl; megane; Heslike; A830086M02
Summary: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Acts upstream of or within several processes, including nervous system development; regulation of transcription by RNA polymerase II; and suckling behavior. Located in nucleus. Part of transcription regulator complex. Is expressed in brain; future midbrain; genitourinary system; heart; and nose. Orthologous to human HELT (helt bHLH transcription factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in CNS E11.5 (RPKM 3.4), CNS E14 (RPKM 1.4) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 B1.1; 8 26.32 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (46745080..46747785, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (46292043..46294748, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the combination of gain- and loss-of-function experiments in the developing midbrain showed co-operative roles for Mgn and Mash1 genes in determining GABAergic identity.
Title: Hairy/Enhancer-of-Split MEGANE and Proneural MASH1 Factors Cooperate Synergistically in Midbrain GABAergic Neurogenesis.
the prethalamic factors Dlxs upregulated by Ascl1/Helt deficiency play unique roles in regulating thalamic progenitor specification.
Title: Ascl1 and Helt act combinatorially to specify thalamic neuronal identity by repressing Dlxs activation.
Helt determines GABAergic over glutamatergic fate, by repressing Ngn genes; Helt and Ngns are commonly used in the mesencephalon for determination of the GABAergic versus glutamatergic transmitter phenotype.
Title: Helt determines GABAergic over glutamatergic neuronal fate by repressing Ngn genes in the developing mesencephalon.
Mgn is a single copy gene on mouse chromosome 8 and encodes a 27kDa protein that functions in the nucleus.
Title: Molecular characterization, structure and developmental expression of Megane bHLH factor.
Homozygous Mgn-null mice die between the second and the fifth postnatal week of age, and show a complete depletion of Gad65 and Gad67 expression in the superior colliculus and a reduction in the inferior colliculus.
Title: Megane/Heslike is required for normal GABAergic differentiation in the mouse superior colliculus.
Helt acts as a transcriptional repressor to regulate neuronal differentiation and/or identity
Title: Helt, a novel basic-helix-loop-helix transcriptional repressor expressed in the developing central nervous system.
identification of a novel mouse bHLH factor, termed Heslike, that has Hes1-like bHLH domain and transcriptional repressor activity; Heslike is coexpressed with the bHLH factor Mash1 in brain regions that give rise to GABAergic neurons
Title: Identification of a novel basic helix-loop-helix gene, Heslike, and its role in GABAergic neurogenesis.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Helt (e-PCR), detects polymorphism
- UniSTS:531076

Helt (e-PCR), detects polymorphism
- UniSTS:531077

Helt (e-PCR), detects polymorphism
- UniSTS:547236

NoName (e-PCR)
- UniSTS:485032

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within GABAergic neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within GABAergic neuron differentiation in basal ganglia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within nervous system development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	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
acts_upstream_of_or_within suckling behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

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; bHLH transcription factor megane; mesencephalic GABAergic neurons enhancer of split related protein; protein megane

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)

NM_173789.4 → NP_776150.2 hairy and enhancer of split-related protein HELT

See identical proteins and their annotated locations for NP_776150.2

Status: PROVISIONAL

Source sequence(s)

AB120968

Consensus CDS

CCDS22290.1

UniProtKB/Swiss-Prot

Q7TS99

UniProtKB/TrEMBL

Q8BRJ9

Related

ENSMUSP00000054823.8, ENSMUST00000058636.9

Conserved Domains (2) summary

pfam00010
Location:13 → 66

HLH; Helix-loop-helix DNA-binding domain

pfam07527
Location:86 → 126

Hairy_orange; Hairy Orange

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

46745080..46747785 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030243446.1 → XP_030099306.1 hairy and enhancer of split-related protein HELT isoform X3

UniProtKB/TrEMBL

Q8BRJ9

Conserved Domains (2) summary

PLN02983
Location:90 → 156

PLN02983; biotin carboxyl carrier protein of acetyl-CoA carboxylase

pfam07527
Location:30 → 70

Hairy_orange; Hairy Orange
XM_006509389.3 → XP_006509452.1 hairy and enhancer of split-related protein HELT isoform X1

UniProtKB/TrEMBL

Q8BRJ9

Conserved Domains (3) summary

PLN02983
Location:147 → 213

PLN02983; biotin carboxyl carrier protein of acetyl-CoA carboxylase

pfam07527
Location:87 → 127

Hairy_orange; Hairy Orange

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
XM_011242213.2 → XP_011240515.1 hairy and enhancer of split-related protein HELT isoform X2

UniProtKB/TrEMBL

Q8BRJ9

Conserved Domains (2) summary

PLN02983
Location:91 → 157

PLN02983; biotin carboxyl carrier protein of acetyl-CoA carboxylase

pfam07527
Location:31 → 71

Hairy_orange; Hairy Orange