Human Gene BHLHA15 (ENST00000609256.2) from GENCODE V44
  Description: Homo sapiens basic helix-loop-helix family member a15 (BHLHA15), mRNA. (from RefSeq NM_177455)
Gencode Transcript: ENST00000609256.2
Gencode Gene: ENSG00000180535.4
Transcript (Including UTRs)
   Position: hg38 chr7:98,211,439-98,215,457 Size: 4,019 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr7:98,212,310-98,212,879 Size: 570 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:98,211,439-98,215,457)mRNA (may differ from genome)Protein (189 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BHA15_HUMAN
DESCRIPTION: RecName: Full=Class A basic helix-loop-helix protein 15; Short=bHLHa15; AltName: Full=Class B basic helix-loop-helix protein 8; Short=bHLHb8; AltName: Full=Muscle, intestine and stomach expression 1; Short=MIST-1;
FUNCTION: Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E- box occupancy by homodimers. May also negatively regulate bHLH- mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages. Binds to the E- box consensus sequence 5'-CANNTG-3' (By similarity).
SUBUNIT: Forms homodimers or heterodimers with TCF3 gene products E12 and E47. These dimers bind to the E-box site, however, heterodimer with MYOD1 does not bind target DNA (By similarity).
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Expressed in brain, liver, spleen and skeletal muscle.
DOMAIN: Lacks a classic transcription activation domain and instead possesses an N-terminal region capable of inhibiting heterologous activators (By similarity).
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) 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: BHLHA15
Diseases sorted by gene-association score: maturity-onset diabetes of the young (1)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 146.39 RPKM in Pancreas
Total median expression: 187.44 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.10114-0.352 Picture PostScript Text
3' UTR -1166.902578-0.453 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

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

ModBase Predicted Comparative 3D Structure on Q7RTS1
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0042803 protein homodimerization activity
GO:0046983 protein dimerization activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006851 mitochondrial calcium ion transport
GO:0007030 Golgi organization
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007267 cell-cell signaling
GO:0010832 negative regulation of myotube differentiation
GO:0019722 calcium-mediated signaling
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0042149 cellular response to glucose starvation
GO:0042593 glucose homeostasis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048312 intracellular distribution of mitochondria
GO:0048469 cell maturation

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BX648200 - Homo sapiens mRNA; cDNA DKFZp779C0742 (from clone DKFZp779C0742).
BC113394 - Homo sapiens basic helix-loop-helix family, member a15, mRNA (cDNA clone MGC:141954 IMAGE:8322446), complete cds.
BC113396 - Homo sapiens basic helix-loop-helix family, member a15, mRNA (cDNA clone MGC:141956 IMAGE:8322448), complete cds.
AB464465 - Synthetic construct DNA, clone: pF1KB9784, Homo sapiens BHLHB8 gene for basic helix-loop-helix domain containing, class B, 8, without stop codon, in Flexi system.
KJ895751 - Synthetic construct Homo sapiens clone ccsbBroadEn_05145 BHLHA15 gene, encodes complete protein.
DQ587789 - Homo sapiens piRNA piR-54901, complete sequence.
DQ601447 - Homo sapiens piRNA piR-39513, complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04950 - Maturity onset diabetes of the young

-  Other Names for This Gene
  Alternate Gene Symbols: A4D271, BHA15_HUMAN, BHLHB8, ENST00000609256.1, MIST1, NM_177455, Q14DE4, Q7RTS1, uc003upe.1, uc003upe.2, uc003upe.3
UCSC ID: ENST00000609256.2
RefSeq Accession: NM_177455
Protein: Q7RTS1 (aka BHA15_HUMAN)
CCDS: CCDS5655.1

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