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Aliases for BARHL1 Gene

Aliases for BARHL1 Gene

  • BarH-Like Homeobox 1 2 3
  • BarH (Drosophila)-Like 1 2

External Ids for BARHL1 Gene

Previous GeneCards Identifiers for BARHL1 Gene

  • GC09P126482
  • GC09P127014
  • GC09P128811
  • GC09P130734
  • GC09P134447
  • GC09P135457
  • GC09P104951

Summaries for BARHL1 Gene

GeneCards Summary for BARHL1 Gene

BARHL1 (BarH-Like Homeobox 1) is a Protein Coding gene. Diseases associated with BARHL1 include joubert syndrome 1. GO annotations related to this gene include sequence-specific DNA binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding. An important paralog of this gene is DLX5.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BARHL1 Gene

Genomics for BARHL1 Gene

Regulatory Elements for BARHL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BARHL1 Gene

Chromosome:
9
Start:
132,582,185 bp from pter
End:
132,590,266 bp from pter
Size:
8,082 bases
Orientation:
Plus strand

Genomic View for BARHL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BARHL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BARHL1 Gene

Proteins for BARHL1 Gene

  • Protein details for BARHL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZE3-BARH1_HUMAN
    Recommended name:
    BarH-like 1 homeobox protein
    Protein Accession:
    Q9BZE3
    Secondary Accessions:
    • Q5T6V2
    • Q9NY88

    Protein attributes for BARHL1 Gene

    Size:
    327 amino acids
    Molecular mass:
    35074 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BARHL1 Gene

Proteomics data for BARHL1 Gene at MOPED

Post-translational modifications for BARHL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BARHL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BARHL1 Gene

Domains & Families for BARHL1 Gene

Gene Families for BARHL1 Gene

Suggested Antigen Peptide Sequences for BARHL1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BZE3

UniProtKB/Swiss-Prot:

BARH1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the BAR homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the BAR homeobox family.
genes like me logo Genes that share domains with BARHL1: view

Function for BARHL1 Gene

Gene Ontology (GO) - Molecular Function for BARHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IBA --
GO:0003677 DNA binding --
GO:0043565 sequence-specific DNA binding --
genes like me logo Genes that share ontologies with BARHL1: view

Phenotypes for BARHL1 Gene

genes like me logo Genes that share phenotypes with BARHL1: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BARHL1 Gene

Localization for BARHL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BARHL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BARHL1 Gene COMPARTMENTS Subcellular localization image for BARHL1 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for BARHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with BARHL1: view

Pathways & Interactions for BARHL1 Gene

SuperPathways for BARHL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BARHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007399 nervous system development IBA --
genes like me logo Genes that share ontologies with BARHL1: view

No data available for Pathways by source and SIGNOR curated interactions for BARHL1 Gene

Drugs & Compounds for BARHL1 Gene

No Compound Related Data Available

Transcripts for BARHL1 Gene

mRNA/cDNA for BARHL1 Gene

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

Unigene Clusters for BARHL1 Gene

BarH-like homeobox 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BARHL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BARHL1 Gene

No ASD Table

Relevant External Links for BARHL1 Gene

GeneLoc Exon Structure for
BARHL1
ECgene alternative splicing isoforms for
BARHL1

Expression for BARHL1 Gene

mRNA expression in normal human tissues for BARHL1 Gene

mRNA differential expression in normal tissues according to GTEx for BARHL1 Gene

This gene is overexpressed in Brain - Cerebellum (x24.9) and Brain - Cerebellar Hemisphere (x24.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BARHL1 Gene



SOURCE GeneReport for Unigene cluster for BARHL1 Gene Hs.283809

genes like me logo Genes that share expression patterns with BARHL1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for BARHL1 Gene

Orthologs for BARHL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BARHL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BARHL1 35
  • 94.39 (n)
  • 98.78 (a)
BARHL1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BARHL1 35
  • 95.62 (n)
  • 99.39 (a)
BARHL1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Barhl1 35
  • 93.17 (n)
  • 97.86 (a)
Barhl1 16
Barhl1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BARHL1 35
  • 99.69 (n)
  • 100 (a)
BARHL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Barhl1 35
  • 92.46 (n)
  • 97.86 (a)
oppossum
(Monodelphis domestica)
Mammalia BARHL1 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves BARHL1 35
  • 79.63 (n)
  • 84.13 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia barhl1 35
  • 76.23 (n)
  • 86.11 (a)
African clawed frog
(Xenopus laevis)
Amphibia barh2-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii barhl1b 35
  • 73.23 (n)
  • 82.5 (a)
barhl1a 36
  • 79 (a)
OneToMany
barhl1b 36
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta B-H1 37
  • 68 (a)
B-H2 37
  • 62 (a)
CG11085 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-30 36
  • 35 (a)
ManyToMany
ceh-31 36
  • 30 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for BARHL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for BARHL1 Gene

ENSEMBL:
Gene Tree for BARHL1 (if available)
TreeFam:
Gene Tree for BARHL1 (if available)

Paralogs for BARHL1 Gene

(7) SIMAP similar genes for BARHL1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BARHL1: view

Variants for BARHL1 Gene

Sequence variations from dbSNP and Humsavar for BARHL1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs306523 -- 132,588,866(+) GGAGC(A/C)CCCCC intron-variant
rs368476 -- 132,581,165(+) GGTAC(A/G)ACAGC upstream-variant-2KB
rs369933 -- 132,581,554(+) CGCGc(A/G)cacac upstream-variant-2KB
rs370283 -- 132,581,647(+) GGAAG(A/G)AAAAA upstream-variant-2KB
rs370721 -- 132,581,799(+) ACCCC(C/G)CTTGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BARHL1 Gene

Variant ID Type Subtype PubMed ID
nsv894023 CNV Gain 21882294

Variation tolerance for BARHL1 Gene

Residual Variation Intolerance Score: 19.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 9.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BARHL1 Gene

HapMap Linkage Disequilibrium report
BARHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BARHL1 Gene

Disorders for BARHL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BARHL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
joubert syndrome 1
  • joubert syndrome
- elite association

Relevant External Links for BARHL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BARHL1
genes like me logo Genes that share disorders with BARHL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BARHL1 Gene

Publications for BARHL1 Gene

  1. BARHL1 homeogene, the human ortholog of the mouse Barhl1 involved in cerebellum development, shows regional and cellular specificities in restricted domains of developing human central nervous system. (PMID: 16307728) Lopes C. … Rachidi M. (Biochem. Biophys. Res. Commun. 2006) 23 67
  2. Expression of BARHL1 in medulloblastoma is associated with prolonged survival in mice and humans. (PMID: 21602885) PAPschl J. … SchA1ller U. (Oncogene 2011) 67
  3. An atlas of combinatorial transcriptional regulation in mouse and man. (PMID: 20211142) Ravasi T. … Hayashizaki Y. (Cell 2010) 67
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 67
  5. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PMID: 17353931) Ewing R.M. … Figeys D. (Mol. Syst. Biol. 2007) 67

Products for BARHL1 Gene

Sources for BARHL1 Gene

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