Human Gene BARX1 (ENST00000253968.11_7) from GENCODE V47lift37
  Description: BARX homeobox 1 (from RefSeq NM_021570.4)
Gencode Transcript: ENST00000253968.11_7
Gencode Gene: ENSG00000131668.14_9
Transcript (Including UTRs)
   Position: hg19 chr9:96,713,909-96,717,637 Size: 3,729 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr9:96,714,446-96,717,428 Size: 2,983 Coding Exon Count: 4 

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 (chr9:96,713,909-96,717,637)mRNA (may differ from genome)Protein (254 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BARX1_HUMAN
DESCRIPTION: RecName: Full=Homeobox protein BarH-like 1;
FUNCTION: Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity (By similarity). Binds to a regulatory module of the NCAM promoter.
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Widely expressed. Expressed at higher levels in testis and heart. Detected in craniofacial tissue and adult iris, but not in lymphocytes, fibroblasts, choroid retina, retinal pigment epithelium, kidney, or fetal liver.
POLYMORPHISM: The polymorphism is not associated with Axenfeld- Reiger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS) or related ocular malformations.
SIMILARITY: Belongs to the BAR homeobox family.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SEQUENCE CAUTION: Sequence=AAG23738.1; Type=Frameshift; Positions=Several;

-  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: BARX1
Diseases sorted by gene-association score: gastritis, familial giant hypertrophic (11), hard palate cancer (8), anterior segment dysgenesis 4 (7), retinal degeneration, late-onset, autosomal dominant (6)

-  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: 44.64 RPKM in Esophagus - Gastroesophageal Junction
Total median expression: 82.19 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 -125.10209-0.599 Picture PostScript Text
3' UTR -226.80537-0.422 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
IPR000047 - HTH_motif

Pfam Domains:
PF00046 - Homeodomain

SCOP Domains:
46689 - Homeodomain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DMT - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9HBU1
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  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: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:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007267 cell-cell signaling
GO:0009888 tissue development
GO:0009952 anterior/posterior pattern specification
GO:0030178 negative regulation of Wnt signaling pathway
GO:0030855 epithelial cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048513 animal organ development
GO:0048536 spleen development
GO:0048856 anatomical structure development
GO:0055123 digestive system development
GO:0007399 nervous system development

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  BC009458 - Homo sapiens BARX homeobox 1, mRNA (cDNA clone IMAGE:3536767), complete cds.
AF213356 - Homo sapiens homeobox transcription factor BARX1 mRNA, complete cds.
BC064363 - Homo sapiens BARX homeobox 1, mRNA (cDNA clone MGC:75298 IMAGE:5555949), complete cds.
JD294469 - Sequence 275493 from Patent EP1572962.
JD132367 - Sequence 113391 from Patent EP1572962.
JD124425 - Sequence 105449 from Patent EP1572962.
JD406917 - Sequence 387941 from Patent EP1572962.
JD468967 - Sequence 449991 from Patent EP1572962.
JD338967 - Sequence 319991 from Patent EP1572962.
JD044224 - Sequence 25248 from Patent EP1572962.
JD379346 - Sequence 360370 from Patent EP1572962.
JD270911 - Sequence 251935 from Patent EP1572962.
JF432442 - Synthetic construct Homo sapiens clone IMAGE:100073650 BARX homeobox 1 (BARX1) gene, encodes complete protein.
KJ902900 - Synthetic construct Homo sapiens clone ccsbBroadEn_12294 BARX1 gene, encodes complete protein.
LF212526 - JP 2014500723-A/20029: Polycomb-Associated Non-Coding RNAs.
LF213318 - JP 2014500723-A/20821: Polycomb-Associated Non-Coding RNAs.
JD459255 - Sequence 440279 from Patent EP1572962.
MA448103 - JP 2018138019-A/20029: Polycomb-Associated Non-Coding RNAs.
MA448895 - JP 2018138019-A/20821: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: BARX1_HUMAN, ENST00000253968.1, ENST00000253968.10, ENST00000253968.2, ENST00000253968.3, ENST00000253968.4, ENST00000253968.5, ENST00000253968.6, ENST00000253968.7, ENST00000253968.8, ENST00000253968.9, NM_021570, Q6P2R4, Q96GH8, Q9HBU1, uc317fmv.1, uc317fmv.2
UCSC ID: ENST00000253968.11_7
RefSeq Accession: NM_021570.4
Protein: Q9HBU1 (aka BARX1_HUMAN or BRX1_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.