Human Gene BSX (ENST00000343035.3_7) from GENCODE V47lift37
  Description: brain specific homeobox (from RefSeq NM_001098169.2)
Gencode Transcript: ENST00000343035.3_7
Gencode Gene: ENSG00000188909.5_9
Transcript (Including UTRs)
   Position: hg19 chr11:122,848,278-122,852,542 Size: 4,265 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr11:122,848,357-122,852,379 Size: 4,023 Coding Exon Count: 3 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:122,848,278-122,852,542)mRNA (may differ from genome)Protein (233 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BSH_HUMAN
DESCRIPTION: RecName: Full=Brain-specific homeobox protein homolog;
FUNCTION: DNA binding protein that function as transcriptional activator. Is essentiel for normal postnatal growth and nursing. Is an essential factor for neuronal neuropeptide Y and agouti- related peptide function and locomotory behavior in the control of energy balance (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
SIMILARITY: Belongs to the distal-less homeobox family.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
WEB RESOURCE: Name=Protein Spotlight; Note=Of fidgets and food - Issue 85 of August 2007; URL="http://web.expasy.org/spotlight/back_issues/sptlt085.shtml";

-  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: BSX
Diseases sorted by gene-association score: jacobsen syndrome (3)

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

+  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: 0.32 RPKM in Testis
Total median expression: 0.43 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 -70.40163-0.432 Picture PostScript Text
3' UTR -31.8079-0.403 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
IPR017970 - Homeobox_CS
IPR020479 - Homeobox_metazoa
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like

Pfam Domains:
PF00046 - Homeodomain

SCOP Domains:
46689 - Homeodomain-like

ModBase Predicted Comparative 3D Structure on Q3C1V8
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 orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007626 locomotory behavior
GO:0042755 eating behavior
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060056 mammary gland involution

Cellular Component:
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AB231738 - Homo sapiens mRNA for hypothetical protein, partial cds, clone:Hsa11-digit21-11-01-R.

-  Other Names for This Gene
  Alternate Gene Symbols: BSH_HUMAN, BSX1, ENST00000343035.1, ENST00000343035.2, NM_001098169, Q3C1V8, uc317wnl.1, uc317wnl.2
UCSC ID: ENST00000343035.3_7
RefSeq Accession: NM_001098169.2
Protein: Q3C1V8 (aka BSH_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.