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Aliases for BARHL1 Gene

Aliases for BARHL1 Gene

  • BarH Like Homeobox 1 2 3 5
  • BarH (Drosophila)-Like 1 2
  • BarH-Like Homeobox 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 BARHL2.

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

Enhancers for BARHL1 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
GH09F132560 0.3 FANTOM5 15.3 -21.4 -21361 0.3 STAT1 GLIS1 BARHL1 RNU5D-2P TTF1
GH09F132630 0.2 ENCODE 11.3 +49.2 49197 1.7 HDAC1 ATF1 NFRKB ZBTB40 RARA SCRT2 FOS KDM4B CREM NCOA1 DDX31 BARHL1 RNU5D-2P RNU7-21P RPL39P24 GC09P132620 GTF3C4
GH09F132627 0.4 ENCODE 11.3 +45.1 45124 0.2 BARHL1 RNU5D-2P RNU7-21P RPL39P24 GC09P132620 GTF3C4
GH09F132650 0.2 ENCODE 10.8 +69.3 69301 1.1 CTCF PKNOX1 KLF1 NR2F1 BHLHE40 CEBPB NR3C1 CEBPG ZIC2 RAD21 DDX31 BARHL1 RNU5D-2P RNU7-21P RPL39P24 GTF3C4 GC09P132620
GH09F132582 0.5 ENCODE 0.8 +0.0 4 0.2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 ZNF263 SP5 BARHL1 GC09P132620
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BARHL1 on UCSC Golden Path with GeneCards custom track

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

Genes around BARHL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BARHL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with BARHL1: view
genes like me logo Genes that share phenotypes with BARHL1: view

Animal Models for BARHL1 Gene

MGI Knock Outs for BARHL1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 5

Gene Ontology (GO) - Cellular Components for BARHL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,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: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 --
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

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

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 from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for BARHL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of BARHL1 Gene:

BARHL1

SOURCE GeneReport for Unigene cluster for BARHL1 Gene:

Hs.283809
genes like me logo Genes that share expression patterns with BARHL1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia BARHL1 34 35
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia BARHL1 34 35
  • 95.62 (n)
cow
(Bos Taurus)
Mammalia BARHL1 34 35
  • 94.39 (n)
mouse
(Mus musculus)
Mammalia Barhl1 34 16 35
  • 93.17 (n)
rat
(Rattus norvegicus)
Mammalia Barhl1 34
  • 92.46 (n)
oppossum
(Monodelphis domestica)
Mammalia BARHL1 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves BARHL1 34
  • 79.63 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia barhl1 34
  • 76.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia barh2-A-prov 34
zebrafish
(Danio rerio)
Actinopterygii barhl1a 35
  • 79 (a)
OneToMany
barhl1b 34 35
  • 73.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta B-H1 36
  • 68 (a)
B-H2 36
  • 62 (a)
CG11085 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-30 35
  • 35 (a)
ManyToMany
ceh-31 35
  • 30 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
Species where no ortholog for BARHL1 was found in the sources mined by GeneCards:
  • 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

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
rs111444940 -- 132,582,985(+) GGGGA(C/T)CCCAC reference, missense
rs111570450 -- 132,589,255(+) GCCGT(C/T)GGGTT reference, synonymous-codon
rs111669592 -- 132,588,188(+) CAGAC(A/G)TAGAT intron-variant
rs112403950 -- 132,582,040(+) ACACA(A/C)CACAA upstream-variant-2KB
rs11243832 -- 132,582,025(+) CCCTT(A/T)AAAAA upstream-variant-2KB

Variation tolerance for BARHL1 Gene

Residual Variation Intolerance Score: 19.3% 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BARHL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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 - COSMIC cancer census association via MalaCards

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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  2. Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. (PMID: 10814725) Bulfone A. … Banfi S. (Hum. Mol. Genet. 2000) 3 4 64
  3. Expression of BARHL1 in medulloblastoma is associated with prolonged survival in mice and humans. (PMID: 21602885) PAPschl J. … SchA1ller U. (Oncogene 2011) 3 64
  4. An atlas of combinatorial transcriptional regulation in mouse and man. (PMID: 20211142) Ravasi T. … Hayashizaki Y. (Cell 2010) 3 64
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3 64

Products for BARHL1 Gene

Sources for BARHL1 Gene

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