Human Gene ASCL3 (ENST00000531618.2) from GENCODE V44
  Description: Homo sapiens achaete-scute family bHLH transcription factor 3 (ASCL3), mRNA. (from RefSeq NM_020646)
RefSeq Summary (NM_020646): Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000531618.2
Gencode Gene: ENSG00000176009.4
Transcript (Including UTRs)
   Position: hg38 chr11:8,937,578-8,943,016 Size: 5,439 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr11:8,937,616-8,938,161 Size: 546 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:8,937,578-8,943,016)mRNA (may differ from genome)Protein (181 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDMalacardsMGIneXtProtOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ASCL3_HUMAN
DESCRIPTION: RecName: Full=Achaete-scute homolog 3; Short=ASH-3; Short=hASH3; AltName: Full=Class A basic helix-loop-helix protein 42; Short=bHLHa42; AltName: Full=bHLH transcriptional regulator Sgn-1;
FUNCTION: Transcriptional repressor. Inhibits myogenesis (By similarity).
SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein (By similarity).
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
SEQUENCE CAUTION: Sequence=CAB92288.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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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: ASCL3
Diseases sorted by gene-association score: leukoencephalopathy with vanishing white matter (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.06 RPKM in Minor Salivary Gland
Total median expression: 3.71 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 -4.6043-0.107 Picture PostScript Text
3' UTR -1.5038-0.039 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
IPR015660 - ASH
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q9NQ33
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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
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  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:0046983 protein dimerization activity
GO:0003700 transcription factor activity, sequence-specific DNA binding

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

Cellular Component:
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0090575 RNA polymerase II transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  LP895822 - Sequence 686 from Patent EP3253886.
BC141565 - Synthetic construct Homo sapiens clone IMAGE:100014515, MGC:175299 achaete-scute complex homolog 3 (Drosophila) (ASCL3) mRNA, encodes complete protein.
BC146582 - Synthetic construct Homo sapiens clone IMAGE:100014861, MGC:180148 achaete-scute complex homolog 3 (Drosophila) (ASCL3) mRNA, encodes complete protein.
AB464448 - Synthetic construct DNA, clone: pF1KB9580, Homo sapiens ASCL3 gene for achaete-scute complex homolog 3, without stop codon, in Flexi system.

-  Other Names for This Gene
  Alternate Gene Symbols: ASCL3_HUMAN, BHLHA42, ENST00000531618.1, HASH3, NM_020646, Q8WYQ6, Q9NQ33, SGN1, uc057yvn.1, uc057yvn.2
UCSC ID: ENST00000531618.2
RefSeq Accession: NM_020646
Protein: Q9NQ33 (aka ASCL3_HUMAN or ASC3_HUMAN)

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