Human Gene HES6 (ENST00000272937.10_11) from GENCODE V47lift37
  Description: hes family bHLH transcription factor 6, transcript variant 1 (from RefSeq NM_018645.6)
Gencode Transcript: ENST00000272937.10_11
Gencode Gene: ENSG00000144485.11_15
Transcript (Including UTRs)
   Position: hg19 chr2:239,146,908-239,148,679 Size: 1,772 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr2:239,147,468-239,148,546 Size: 1,079 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:239,146,908-239,148,679)mRNA (may differ from genome)Protein (224 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HES6_HUMAN
DESCRIPTION: RecName: Full=Transcription cofactor HES-6; AltName: Full=C-HAIRY1; AltName: Full=Class B basic helix-loop-helix protein 41; Short=bHLHb41; AltName: Full=Hairy and enhancer of split 6;
FUNCTION: Does not bind DNA itself but suppresses both HES1- mediated N box-dependent transcriptional repression and binding of HES1 to E box sequences. Also suppresses HES1-mediated inhibition of the heterodimer formed by ASCL1/MASH1 and TCF3/E47, allowing ASCL1 and TCF3 to up-regulate transcription in its presence. Promotes cell differentiation (By similarity).
SUBUNIT: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family. Interacts with HES1 (By similarity).
SUBCELLULAR LOCATION: Nucleus (Probable).
DOMAIN: The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins (By similarity).
DOMAIN: Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG).
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
SIMILARITY: Contains 1 Orange domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.30 RPKM in Pituitary
Total median expression: 306.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.20133-0.626 Picture PostScript Text
3' UTR -232.80560-0.416 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom
IPR003650 - Orange

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain
PF07527 - Hairy Orange

SCOP Domains:
158457 - Orange domain-like
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q96HZ4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003712 transcription cofactor activity
GO:0008134 transcription factor binding
GO:0046983 protein dimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0030154 cell differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005667 transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  BC007939 - Homo sapiens hairy and enhancer of split 6 (Drosophila), mRNA (cDNA clone MGC:14279 IMAGE:4131881), complete cds.
AK075040 - Homo sapiens cDNA FLJ90559 fis, clone OVARC1001049, weakly similar to TRANSCRIPTION FACTOR HES-1 (C-HAIRY1).
AF260237 - Homo sapiens hairy/enhancer of split 6 (HES6) mRNA, complete cds.
JD221777 - Sequence 202801 from Patent EP1572962.
JD106723 - Sequence 87747 from Patent EP1572962.
JD198251 - Sequence 179275 from Patent EP1572962.
JD479265 - Sequence 460289 from Patent EP1572962.
JD218154 - Sequence 199178 from Patent EP1572962.
JD538230 - Sequence 519254 from Patent EP1572962.
JD152584 - Sequence 133608 from Patent EP1572962.
JD393522 - Sequence 374546 from Patent EP1572962.
JD519427 - Sequence 500451 from Patent EP1572962.
AK293111 - Homo sapiens cDNA FLJ77403 complete cds, highly similar to Homo sapiens hairy and enhancer of split 6 (HES6), mRNA.
JD021924 - Sequence 2948 from Patent EP1572962.
JD546335 - Sequence 527359 from Patent EP1572962.
JD034060 - Sequence 15084 from Patent EP1572962.
KJ894199 - Synthetic construct Homo sapiens clone ccsbBroadEn_03593 HES6 gene, encodes complete protein.
AB035179 - Homo sapiens mRNA for HES6, complete cds.
AB463715 - Synthetic construct DNA, clone: pF1KB7589, Homo sapiens HES6 gene for hairy and enhancer of split 6, without stop codon, in Flexi system.
JD024995 - Sequence 6019 from Patent EP1572962.
JD032370 - Sequence 13394 from Patent EP1572962.
JD029430 - Sequence 10454 from Patent EP1572962.
JD021792 - Sequence 2816 from Patent EP1572962.
JD217425 - Sequence 198449 from Patent EP1572962.
JD465581 - Sequence 446605 from Patent EP1572962.
JD445856 - Sequence 426880 from Patent EP1572962.
JD336589 - Sequence 317613 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8KAP6, B8ZZA9, BHLHB41, ENST00000272937.1, ENST00000272937.2, ENST00000272937.3, ENST00000272937.4, ENST00000272937.5, ENST00000272937.6, ENST00000272937.7, ENST00000272937.8, ENST00000272937.9, HES6 , HES6_HUMAN, NM_018645, Q53SN9, Q8N2J2, Q96HZ4, Q96T93, Q9P2S3, uc317jaj.1, uc317jaj.2
UCSC ID: ENST00000272937.10_11
RefSeq Accession: NM_018645.6
Protein: Q96HZ4 (aka HES6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.