Aliases for HELT Gene
Aliases for HELT Gene
External Ids for HELT Gene
- HGNC: 33783
- Entrez Gene: 391723
- Ensembl: ENSG00000187821
- UniProtKB: A6NFD8
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 , CIViC 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 |
|---|---|---|---|---|---|---|---|---|
| GH04G184983 | 0.9 | Ensembl ENCODE | 35.3 | -34.9 | -34922 | 1.0 | GATAD2A CTCF REST RAD21 GABPA MIER3 HDAC2 KLF16 EED MBD1 | LINC02437 HELT ACSL1 ENSG00000279460 GC04P184973 |
| GH04G185115 | 1.5 | Ensembl ENCODE dbSUPER | 11.3 | +97.3 | 97287 | 0.7 | HDGF ATF1 CREB3L1 ARID4B YY1 TCF12 GATA2 FOS NFYC REST | SLC25A4 HELT LOC105377588 |
| GH04G184745 | 1.4 | Ensembl ENCODE dbSUPER | 11.1 | -271.2 | -271178 | 4.1 | HDGF ATF1 SIN3A ARID4B THRB RAD21 RARA TCF12 ZNF766 ZNF143 | CENPU ENSG00000251139 ACSL1 HELT PRIMPOL CASP3 PIR41861 SLED1 |
| GH04G185111 | 1.3 | Ensembl ENCODE dbSUPER | 11.1 | +94.1 | 94074 | 3.0 | TBP CTCF SREBF2 JUN MAX YY1 FOSL1 POLR3A NCOR1 NR2F6 | SLC25A4 HELT LOC105377588 |
| GH04G185039 | 1 | Ensembl ENCODE | 12.3 | +21.1 | 21061 | 0.6 | HDAC1 CTCF LEF1 CREB3L1 MAX CEBPG RAD21 RFX5 ZNF366 ZNF143 | HELT LINC02436 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HELT on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 4q35.1 by Ensembl
- 4q35.1 by Entrez Gene
- 4q35.1 by HGNC
HELT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for HELT Gene
Post-translational modifications for HELT Gene
Other Protein References for HELT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HELT
- Novus Biologicals Antibodies for HELT
- Invitrogen Antibodies for HELT
- antibodies-online Antibodies for HELT: See all 26
- Search GeneTex for Antibodies for HELT
Protein Products
-
OriGene Purified Proteins for HELT
- Search Origene for MassSpec and Protein Over-expression Lysates for HELT
- Origene Custom Protein Services for HELT
- antibodies-online Proteins for HELT: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HELT
Assay Products
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- Family:
-
- Belongs to the HEY family.
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.
| 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 | -- |
Phenotypes for HELT Gene
- MGI mutant phenotypes for HELT:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for HELT:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HELT gene
- Search ViGene Biosciences for HELT
CRISPR Products
-
OriGene CRISPR knockouts for HELT
-
Santa Cruz Biotechnology (SCBT) CRISPR for HELT
- GenScript: Design CRISPR guide RNA sequences for HELT
miRNA Products
- Search ViGene Biosciences for HELT
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HELT
- Browse OriGene Inhibitory RNA Products For HELT
- Search ViGene Biosciences for HELT
Cell Line Products
-
Horizon Cell Lines for HELT
-
ViGene Biosciences adenoviral particle packaged cDNA for HELT gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HELT gene
- Search ViGene Biosciences for HELT
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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005667 | transcription factor complex | IEA | -- |
Pathways & Interactions for HELT Gene
No Data Available
Interacting Proteins 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 | -- |
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
CRISPR Products
-
OriGene CRISPR knockouts for HELT
-
Santa Cruz Biotechnology (SCBT) CRISPR for HELT
- GenScript: Design CRISPR guide RNA sequences for HELT
miRNA Products
- Search ViGene Biosciences for HELT
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HELT
- Browse OriGene Inhibitory RNA Products For HELT
- Search ViGene Biosciences for HELT
Flow Cytometry Products
Expression 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:
HELTSOURCE GeneReport for Unigene cluster for HELT Gene:
Hs.531242Primer Products
-
OriGene qPCR primer pairs for HELT
No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HELT Gene
Orthologs for HELT Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HELT 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HELT 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HELT 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | HELT 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Helt 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Helt 34 16 35 |
|
||
| chicken (Gallus gallus) |
Aves | HELT 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HELT 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | helt 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | helt 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | cwo 35 |
|
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)
Paralogs for HELT Gene
(1) SIMAP similar genes for HELT Gene using alignment to 2 proteins:
Variants for HELT Gene
| SNP ID | Clin | Chr 04 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000423070 | -- | 185,017,863(+) | CCCCC(A/C)ATCCT | upstream-variant-2KB | |
| rs1000506485 | -- | 185,021,747(+) | TTTTT(-/A)ATCTC | downstream-variant-500B | |
| rs1002412120 | -- | 185,018,225(+) | GAAGG(A/C)CGTGT | upstream-variant-2KB | |
| rs1002729140 | -- | 185,018,198(+) | TAAAG(C/T)GGTGT | upstream-variant-2KB | |
| rs1002784837 | -- | 185,018,466(+) | GGGTC(C/T)TCGCC | upstream-variant-2KB |
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
No disorders were found for HELT Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HELT Gene
Publications for HELT Gene
- 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
- 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
- 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
- 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
- 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
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for HELT
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HELT
- Search Origene for MassSpec and Protein Over-expression Lysates for HELT
- Origene Custom Protein Services for HELT
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HELT
- Browse OriGene Inhibitory RNA Products For HELT
- OriGene qPCR primer pairs for HELT
- OriGene CRISPR knockouts for HELT
- OriGene ORF clones in human for HELT
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HELT
- GenScript: Next-day shipping cDNA ORF clone for HELT in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HELT
- GenScript Custom Assay Services for HELT
- GenScript Custom overexpressing Cell Line Services for HELT
- GenScript: Design CRISPR guide RNA sequences for HELT
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for HELT
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for HELT
- Novus Biologicals proteins and lysates for HELT
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- antibodies-online Antibodies for HELT: See all 26
- Search antibodies-online for kits
- antibodies-online Proteins for HELT: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Antibodies for HELT
- Search GeneTex for Proteins for HELT
- ViGene Biosciences adenoviral particle packaged cDNA for HELT gene
- ViGene Biosciences lentiviral particle packaged cDNA for HELT gene
- Search ViGene Biosciences for HELT
- Horizon Cell Lines for HELT
- Cyagen custom Knockout/knockin (KOKI) mouse models for HELT
- VectorBuilder custom plasmid, inducible vectors for HELT
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HELT
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HELT Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer