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

Gene ID: 391723, updated on 13-Mar-2020

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
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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 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 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
GABAergic neuron differentiation in basal ganglia IEA
Inferred from Electronic Annotation
more info
 
anterior/posterior pattern specification 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
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
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
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
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, ENST00000515777.5
    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, ENST00000505610.5
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 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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