Human Gene HES5 (ENST00000378453.4_7) from GENCODE V47lift37
  Description: hes family bHLH transcription factor 5 (from RefSeq NM_001010926.4)
Gencode Transcript: ENST00000378453.4_7
Gencode Gene: ENSG00000197921.6_9
Transcript (Including UTRs)
   Position: hg19 chr1:2,460,184-2,461,702 Size: 1,519 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr1:2,460,908-2,461,603 Size: 696 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:2,460,184-2,461,702)mRNA (may differ from genome)Protein (166 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HES5_HUMAN
DESCRIPTION: RecName: Full=Transcription factor HES-5; AltName: Full=Class B basic helix-loop-helix protein 38; Short=bHLHb38; AltName: Full=Hairy and enhancer of split 5;
FUNCTION: Transcriptional repressor of genes that require a bHLH protein for their transcription (By similarity).
SUBUNIT: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Expressed in fetal heart and brain tumors.
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) (By similarity).
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).
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


-  MalaCards Disease Associations
  MalaCards Gene Search: HES5
Diseases sorted by gene-association score: valproate embryopathy, susceptibility to (1)

-  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: 5.96 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 47.23 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 -32.7099-0.330 Picture PostScript Text
3' UTR -313.90724-0.434 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 Q5TA89
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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003690 double-stranded DNA binding
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:0007155 cell adhesion
GO:0007219 Notch signaling pathway
GO:0007224 smoothened signaling pathway
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0007420 brain development
GO:0008284 positive regulation of cell proliferation
GO:0014003 oligodendrocyte development
GO:0021537 telencephalon development
GO:0021781 glial cell fate commitment
GO:0021861 forebrain radial glial cell differentiation
GO:0021915 neural tube development
GO:0022010 central nervous system myelination
GO:0030154 cell differentiation
GO:0030182 neuron differentiation
GO:0030513 positive regulation of BMP signaling pathway
GO:0031641 regulation of myelination
GO:0042491 auditory receptor cell differentiation
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein
GO:0042668 auditory receptor cell fate determination
GO:0043010 camera-type eye development
GO:0045595 regulation of cell differentiation
GO:0045607 regulation of auditory receptor cell differentiation
GO:0045665 negative regulation of neuron differentiation
GO:0045747 positive regulation of Notch signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046427 positive regulation of JAK-STAT cascade
GO:0048469 cell maturation
GO:0048661 positive regulation of smooth muscle cell proliferation
GO:0048708 astrocyte differentiation
GO:0048712 negative regulation of astrocyte differentiation
GO:0048715 negative regulation of oligodendrocyte differentiation
GO:0050678 regulation of epithelial cell proliferation
GO:0050767 regulation of neurogenesis
GO:0051216 cartilage development
GO:0060122 inner ear receptor stereocilium organization
GO:0065003 macromolecular complex assembly
GO:0072049 comma-shaped body morphogenesis
GO:0072050 S-shaped body morphogenesis
GO:0072086 specification of loop of Henle identity
GO:0072282 metanephric nephron tubule morphogenesis
GO:0090162 establishment of epithelial cell polarity
GO:0097150 neuronal stem cell population maintenance
GO:2000737 negative regulation of stem cell differentiation
GO:2000974 negative regulation of pro-B cell differentiation
GO:2000978 negative regulation of forebrain neuron differentiation
GO:2000981 negative regulation of inner ear receptor cell differentiation
GO:0002062 chondrocyte differentiation

Cellular Component:
GO:0005575 cellular_component
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  BC087840 - Homo sapiens hairy and enhancer of split 5 (Drosophila), mRNA (cDNA clone MGC:102848 IMAGE:6204648), complete cds.
DQ272660 - Homo sapiens HES5 (HES5) mRNA, complete cds.
JB837391 - Sequence 2 from Patent WO2013106494.
JD590324 - Sequence 2 from Patent WO2015015498.
JD189481 - Sequence 170505 from Patent EP1572962.
JD516440 - Sequence 497464 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5TA89 (Reactome details) participates in the following event(s):

R-HSA-2122947 NOTCH1 Intracellular Domain Regulates Transcription
R-HSA-2197563 NOTCH2 intracellular domain regulates transcription
R-HSA-2644606 Constitutive Signaling by NOTCH1 PEST Domain Mutants
R-HSA-2894862 Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
R-HSA-1980143 Signaling by NOTCH1
R-HSA-1980145 Signaling by NOTCH2
R-HSA-2644602 Signaling by NOTCH1 PEST Domain Mutants in Cancer
R-HSA-2894858 Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer
R-HSA-9012852 Signaling by NOTCH3
R-HSA-157118 Signaling by NOTCH
R-HSA-2644603 Signaling by NOTCH1 in Cancer
R-HSA-162582 Signal Transduction
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: B9DI85, BHLHB38, ENST00000378453.1, ENST00000378453.2, ENST00000378453.3, HES5_HUMAN, NM_001010926, Q5TA89, uc318ohl.1, uc318ohl.2
UCSC ID: ENST00000378453.4_7
RefSeq Accession: NM_001010926.4
Protein: Q5TA89 (aka HES5_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.