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Aliases for BARX1 Gene

Aliases for BARX1 Gene

  • BARX Homeobox 1 2 3 5
  • BarH-Like Homeobox 1 2

External Ids for BARX1 Gene

Previous GeneCards Identifiers for BARX1 Gene

  • GC09M087540
  • GC09M088441
  • GC09M090013
  • GC09M092055
  • GC09M093793
  • GC09M095753
  • GC09M096713
  • GC09M066390

Summaries for BARX1 Gene

Entrez Gene Summary for BARX1 Gene

  • This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008]

GeneCards Summary for BARX1 Gene

BARX1 (BARX Homeobox 1) is a Protein Coding gene. Diseases associated with BARX1 include Gastritis, Familial Giant Hypertrophic and Hard Palate Cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is BARX2.

UniProtKB/Swiss-Prot for BARX1 Gene

  • 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.

Additional gene information for BARX1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BARX1 Gene

Genomics for BARX1 Gene

Regulatory Elements for BARX1 Gene

Enhancers for BARX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H093949 1.3 Ensembl ENCODE dbSUPER 4.9 +3.9 3931 4 ESRRA SUZ12 JUN MAX ZBTB40 FOSL1 ELK1 POLR2A EGR1 FOS PTPDC1 BARX1-AS1 BARX1 ENSG00000231990
GH09H094029 1.1 ENCODE 4.4 -75.8 -75765 2 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 FOS MXD4 NFYC PHF2 LOC100132077 PTPDC1 BARX1 CYCSP24
GH09H093683 0.7 ENCODE 6.2 +272.2 272210 1 CTCF KLF1 RFX1 TRIM22 MNT KLF4 RAD21 ZKSCAN1 ZNF217 CC2D1A BARX1 ENSG00000227603 PHF2 MIR548AU LOC101928014
GH09H093985 0.3 FANTOM5 12.4 -30.2 -30162 0 BARX1-AS1 BARX1 PTPDC1 PIR58475
GH09H094055 0.7 Ensembl ENCODE 4.3 -101.2 -101249 1 JUN JUNB NR2F2 BARX1 CYCSP24 LOC105376152
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BARX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BARX1 Gene

Chromosome:
9
Start:
93,951,622 bp from pter
End:
93,955,372 bp from pter
Size:
3,751 bases
Orientation:
Minus strand

Genomic View for BARX1 Gene

Genes around BARX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BARX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BARX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BARX1 Gene

Proteins for BARX1 Gene

  • Protein details for BARX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBU1-BARX1_HUMAN
    Recommended name:
    Homeobox protein BarH-like 1
    Protein Accession:
    Q9HBU1
    Secondary Accessions:
    • Q6P2R4
    • Q96GH8

    Protein attributes for BARX1 Gene

    Size:
    254 amino acids
    Molecular mass:
    27298 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG23738.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BARX1 Gene

    Alternative splice isoforms for BARX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BARX1 Gene

Post-translational modifications for BARX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BARX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BARX1 Gene

Domains & Families for BARX1 Gene

Gene Families for BARX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for BARX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HBU1

UniProtKB/Swiss-Prot:

BARX1_HUMAN :
  • Belongs to the BAR homeobox family.
Family:
  • Belongs to the BAR homeobox family.
genes like me logo Genes that share domains with BARX1: view

Function for BARX1 Gene

Molecular function for BARX1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for BARX1 Gene

Gene Ontology (GO) - Molecular Function for BARX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IBA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 10995576
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with BARX1: view
genes like me logo Genes that share phenotypes with BARX1: view

Animal Models for BARX1 Gene

MGI Knock Outs for BARX1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BARX1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BARX1 Gene

Localization for BARX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BARX1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BARX1 gene
Compartment Confidence
nucleus 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BARX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with BARX1: view

Pathways & Interactions for BARX1 Gene

SuperPathways for BARX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BARX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007267 cell-cell signaling IEA --
genes like me logo Genes that share ontologies with BARX1: view

No data available for Pathways by source and SIGNOR curated interactions for BARX1 Gene

Drugs & Compounds for BARX1 Gene

No Compound Related Data Available

Transcripts for BARX1 Gene

mRNA/cDNA for BARX1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(34) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BARX1 Gene

BARX homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BARX1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for BARX1 Gene

No ASD Table

Relevant External Links for BARX1 Gene

GeneLoc Exon Structure for
BARX1
ECgene alternative splicing isoforms for
BARX1

Expression for BARX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BARX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BARX1 Gene

This gene is overexpressed in Stomach (x27.6) and Esophagus - Gastroesophageal Junction (x18.3).

Protein differential expression in normal tissues from HIPED for BARX1 Gene

This gene is overexpressed in Heart (42.1) and Fetal gut (26.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BARX1 Gene



Protein tissue co-expression partners for BARX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of BARX1 Gene:

BARX1

SOURCE GeneReport for Unigene cluster for BARX1 Gene:

Hs.164960

mRNA Expression by UniProt/SwissProt for BARX1 Gene:

Q9HBU1-BARX1_HUMAN
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.

Evidence on tissue expression from TISSUES for BARX1 Gene

  • Lung(4)
  • Stomach(2.2)
genes like me logo Genes that share expression patterns with BARX1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BARX1 Gene

Orthologs for BARX1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BARX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BARX1 33 34
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia BARX1 33 34
  • 90.16 (n)
dog
(Canis familiaris)
Mammalia BARX1 33 34
  • 89.76 (n)
rat
(Rattus norvegicus)
Mammalia Barx1 33
  • 88.58 (n)
mouse
(Mus musculus)
Mammalia Barx1 33 16 34
  • 88.06 (n)
oppossum
(Monodelphis domestica)
Mammalia BARX1 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BARX1 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves BARX1 33 34
  • 80.43 (n)
lizard
(Anolis carolinensis)
Reptilia BARX1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491751 33
  • 69.1 (n)
zebrafish
(Danio rerio)
Actinopterygii barx1 33 34
  • 65.8 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToMany
Species where no ortholog for BARX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BARX1 Gene

ENSEMBL:
Gene Tree for BARX1 (if available)
TreeFam:
Gene Tree for BARX1 (if available)

Paralogs for BARX1 Gene

Paralogs for BARX1 Gene

(8) SIMAP similar genes for BARX1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BARX1: view

Variants for BARX1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for BARX1 Gene

BARX1_HUMAN-Q9HBU1
The polymorphism is not associated with Axenfeld-Reiger syndrome (ARS), iridogoniodysgenesis syndrome (IGDS) or related ocular malformations.

Sequence variations from dbSNP and Humsavar for BARX1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000994459 -- 93,956,936(+) CTCCA(C/G)CTGCT upstream-variant-2KB
rs1001448225 -- 93,952,687(+) GCATG(C/G)CCCAG intron-variant
rs1001778056 -- 93,956,073(+) TTTCT(C/T)TCCGG nc-transcript-variant, upstream-variant-2KB
rs1002024232 -- 93,954,461(+) GGGCC(A/C)GCGTC intron-variant, upstream-variant-2KB
rs1002053091 -- 93,954,167(+) CAGAC(A/G/T)GTTGG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BARX1 Gene

Variant ID Type Subtype PubMed ID
esv3621110 CNV gain 21293372
nsv1113011 CNV deletion 24896259
nsv509312 CNV insertion 20534489
nsv824993 CNV gain 20364138

Variation tolerance for BARX1 Gene

Gene Damage Index Score: 4.65; 65.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BARX1 Gene

Human Gene Mutation Database (HGMD)
BARX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BARX1

Disorders for BARX1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for BARX1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
gastritis, familial giant hypertrophic
  • gastric mucosal hypertrophy
hard palate cancer
  • hard palate
anterior segment dysgenesis 4
  • iridogoniodysgenesis syndrome
retinal degeneration, late-onset, autosomal dominant
  • retinitis pigmentosa
- elite association - COSMIC cancer census association via MalaCards
Search BARX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BARX1

Genetic Association Database (GAD)
BARX1
Human Genome Epidemiology (HuGE) Navigator
BARX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BARX1
genes like me logo Genes that share disorders with BARX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BARX1 Gene

Publications for BARX1 Gene

  1. Cloning, characterization, localization, and mutational screening of the human BARX1 gene. (PMID: 10995576) Gould DB … Walter MA (Genomics 2000) 3 4 22 60
  2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 45 60
  3. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 45 60
  4. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X … Chen J (Molecular systems biology 2015) 3 60
  5. Supportive evidence for FOXP1, BARX1, and FOXF1 as genetic risk loci for the development of esophageal adenocarcinoma. (PMID: 26383589) Becker J … Schumacher J (Cancer medicine 2015) 3 60

Products for BARX1 Gene

Sources for BARX1 Gene

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