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Aliases for HELT Gene

Aliases for HELT Gene

  • Helt BHLH Transcription Factor 2 3 5
  • HES/HEY-Like Transcription Factor 2 3 4
  • Megane BHLH Factor 2 3
  • Hairy And Enhancer Of Split-Related Protein HELT 3
  • Hey-Like Transcription Factor (Zebrafish) 2
  • Hey-Like Transcriptional Repressor 3
  • Hes-Like Transcription Factor 3
  • Hey-Like Transcription Factor 3
  • HES-Like 2
  • HCM1228 3
  • BHLHb44 3
  • HESL 3
  • Mgn 3

External Ids for HELT Gene

Previous GeneCards Identifiers for HELT Gene

  • GC04P186635
  • GC04P186315
  • GC04P186177
  • GC04P185940
  • GC04P181693

Summaries for HELT Gene

GeneCards Summary for HELT Gene

HELT (Helt BHLH Transcription Factor) is a Protein Coding gene. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is HEY1.

UniProtKB/Swiss-Prot for HELT Gene

  • Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGCG-3.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HELT Gene

Genomics for HELT Gene

Regulatory Elements for HELT Gene

Enhancers for HELT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F184982 0.6 Ensembl ENCODE 35.7 -35.2 -35222 1.6 GATAD2A ZNF263 CTCF RAD21 MIER3 KLF16 MBD1 GABPB1 EED SMC3 ENSG00000248517 HELT ACSL1 ENSG00000279460 GC04P184973
GH04F185039 1 Ensembl ENCODE 12.3 +21.2 21160 0.8 CTCF MAX RAD21 RFX5 ZNF366 ZNF143 SMC3 PRDM10 TCF7L2 ZNF654 HELT LOC101928877
GH04F185086 1.1 FANTOM5 Ensembl 11.8 +67.6 67552 0.4 L3MBTL2 ZBTB33 REST MGA LRP2BP CCDC110 HELT CASP3 PRIMPOL LOC105377588 SLC25A4
GH04F185115 1.2 Ensembl ENCODE 11.3 +97.3 97287 0.7 ATF1 CREB3L1 ARID4B YY1 GATA2 FOS NFYC REST SMARCB1 KAT8 SLC25A4 HELT LOC105377588
GH04F185120 0.7 Ensembl 11.3 +101.6 101560 0.8 CHAMP1 ZFHX2 ZNF316 GATA2 PATZ1 NFE2 MAFK EGR2 MAFG DPF2 SLC25A4 HELT LOC105377588
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around HELT on UCSC Golden Path with GeneCards custom track

Genomic Location for HELT Gene

Chromosome:
4
Start:
185,018,841 bp from pter
End:
185,020,804 bp from pter
Size:
1,964 bases
Orientation:
Plus strand

Genomic View for HELT Gene

Genes around HELT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HELT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HELT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HELT Gene

Proteins for HELT Gene

  • Protein details for HELT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6NFD8-HELT_HUMAN
    Recommended name:
    Hairy and enhancer of split-related protein HELT
    Protein Accession:
    A6NFD8
    Secondary Accessions:
    • B2RTS5
    • B7ZMI7
    • B7ZMI8

    Protein attributes for HELT Gene

    Size:
    242 amino acids
    Molecular mass:
    26913 Da
    Quaternary structure:
    • Self-associates. Interacts with HES5 and HEY2 (By similarity).

    Alternative splice isoforms for HELT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HELT Gene

Post-translational modifications for HELT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HELT Gene

No data available for DME Specific Peptides for HELT Gene

Domains & Families for HELT Gene

Gene Families for HELT Gene

Protein Domains for HELT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HELT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6NFD8

UniProtKB/Swiss-Prot:

HELT_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Belongs to the HEY family.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 Orange domain.
Family:
  • Belongs to the HEY family.
genes like me logo Genes that share domains with HELT: view

Function for HELT Gene

Molecular function for HELT Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGCG-3.

Gene Ontology (GO) - Molecular Function for HELT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with HELT: view
genes like me logo Genes that share phenotypes with HELT: view

Animal Models for HELT Gene

MGI Knock Outs for HELT:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for HELT Gene

Localization for HELT Gene

Subcellular locations from UniProtKB/Swiss-Prot for HELT Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HELT Gene COMPARTMENTS Subcellular localization image for HELT gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for HELT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with HELT: view

Pathways & Interactions for HELT Gene

SuperPathways for HELT Gene

No Data Available

Gene Ontology (GO) - Biological Process for HELT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001967 suckling behavior IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007417 central nervous system development IEA --
genes like me logo Genes that share ontologies with HELT: view

No data available for Pathways by source and SIGNOR curated interactions for HELT Gene

Transcripts for HELT Gene

mRNA/cDNA for HELT Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HELT Gene

Helt bHLH transcription factor:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HELT Gene

No ASD Table

Relevant External Links for HELT Gene

GeneLoc Exon Structure for
HELT
ECgene alternative splicing isoforms for
HELT

Expression for HELT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HELT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HELT Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x20.5), Skin - Not Sun Exposed (Suprapubic) (x13.4), Kidney - Cortex (x7.6), and Lung (x4.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HELT Gene



NURSA nuclear receptor signaling pathways regulating expression of HELT Gene:

HELT

SOURCE GeneReport for Unigene cluster for HELT Gene:

Hs.531242
genes like me logo Genes that share expression patterns with HELT: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for HELT Gene

Orthologs for HELT Gene

This gene was present in the common ancestor of animals.

Orthologs for HELT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HELT 34 35
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia HELT 34 35
  • 90.01 (n)
oppossum
(Monodelphis domestica)
Mammalia HELT 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HELT 34 35
  • 89.45 (n)
rat
(Rattus norvegicus)
Mammalia Helt 34
  • 86.52 (n)
mouse
(Mus musculus)
Mammalia Helt 34 16 35
  • 85.96 (n)
chicken
(Gallus gallus)
Aves HELT 34
  • 71.03 (n)
lizard
(Anolis carolinensis)
Reptilia HELT 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia helt 34
  • 69.48 (n)
zebrafish
(Danio rerio)
Actinopterygii helt 34 35
  • 71.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta cwo 35
  • 9 (a)
OneToOne
Species where no ortholog for HELT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HELT Gene

ENSEMBL:
Gene Tree for HELT (if available)
TreeFam:
Gene Tree for HELT (if available)

Paralogs for HELT Gene

Paralogs for HELT Gene

(1) SIMAP similar genes for HELT Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HELT: view

Variants for HELT Gene

Sequence variations from dbSNP and Humsavar for HELT Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10212707 -- 185,021,369(+) ACCCG(A/G)GCCAG downstream-variant-500B
rs1078461 -- 185,019,798(+) AGTAC(C/G)TGAGA reference, missense
rs111987108 -- 185,021,737(+) TGAGA(-/T)TTTTT downstream-variant-500B
rs112408470 -- 185,019,876(+) CTGGG(C/T)CAGGC intron-variant
rs112435849 -- 185,021,043(+) TAACA(C/G)CCCTC downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HELT Gene

Variant ID Type Subtype PubMed ID
nsv461859 CNV loss 19166990
nsv596369 CNV loss 21841781
nsv822881 CNV gain 20364138

Variation tolerance for HELT Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.98; 74.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HELT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HELT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HELT Gene

Disorders for HELT Gene

Relevant External Links for HELT

Genetic Association Database (GAD)
HELT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HELT

No disorders were found for HELT Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HELT Gene

Publications for HELT Gene

  1. Helt determines GABAergic over glutamatergic neuronal fate by repressing Ngn genes in the developing mesencephalon. (PMID: 17611227) Nakatani T. … Ono Y. (Development 2007) 2 3 64
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Helt, a novel basic-helix-loop-helix transcriptional repressor expressed in the developing central nervous system. (PMID: 14764602) Nakatani T. … Ono Y. (J. Biol. Chem. 2004) 2 3 64
  5. Phosphorylation of the chromatin remodeling factor DPF3a induces cardiac hypertrophy through releasing HEY repressors from DNA. (PMID: 26582913) Cui H. … Sperling S.R. (Nucleic Acids Res. 2016) 3 64

Products for HELT Gene

Sources for HELT Gene

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