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FLASH GENE
Symbol BARHL1 contributors: mct - updated : 07-03-2013
HGNC name BarH-like 1 (Drosophila)
HGNC id 953
Location 9q34.13      Physical location : 135.457.992 - 135.465.640
Synonym symbol(s) FKSG31
DNA
TYPE functioning gene
STRUCTURE 7.65 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   hormone
text structure
  • a THRB binding site in the promoter of BARHL1
  • MAPPING cloned Y linked N status provisional
    Physical map
    CRSP8 9q34.3 cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa NTNG2 9q34 netrin G2 KIAA0625 9q25.3-q34.1 netrin G2 TTF1 9q34.13 transcription termination factor, RNA polymerase I LOC389799 9 hypothetical gene supported by AK128819 BARHL1 9q34 BarH-like 1 (Drosophila) DDX31 9q34.3 DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 GTF3C4 9q34.3 general transcription factor IIIC, polypeptide 4, 90kDa FLJ32704 9q34.3 hypothetical protein FLJ32704 C9orf9 9q34 chromosome 9 open reading frame 9 TSC1 9q34.1-q34.2 tuberous sclerosis 1 GFI1B 9q34.13 growth factor independent 1B (potential regulator of CDKN1A, translocated in CML) LOC158078 9q34 eukaryotic translation elongation factor 1 alpha 1 pseudogene LOC389801 9 LOC389801 GTF3C5 9q34 general transcription factor IIIC, polypeptide 5, 63kDa CEL 9q34.2 carboxyl ester lipase (bile salt-stimulated lipase) CELP 9q34.2-q34.3 carboxyl ester lipase pseudogene RALGDS 9q34.1-q34.2 ral guanine nucleotide dissociation stimulator FS 9q34 ral guanine nucleotide dissociation stimulator OBP2B 9q34 ral guanine nucleotide dissociation stimulator LOC286310 9q34.3 similar to Von Ebners gland protein precursor (VEG protein) (Tear prealbumin) (TP) (Tear lipocalin) (Lipocalin 1) ABO 9q34.1-q34.2 ABO blood group (transferase A, aplha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3galactosyltransferase)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1907 - 327 - 2000 10814725
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinner  highly Homo sapiensFetal
    Nervousbrainhindbraincerebellumcerebellar nucleihighly Homo sapiensFetal
     braindiencephalonhypothalamusmamillary bodieshighly Homo sapiensFetal
     gangliasensory gangliadorsal root  
     spinal cordanterior horn  highly Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text
  • restricted domain of developing CNS
  • in fetal cerebellar cell layers
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminus with two FIL domains
  • an acidic domain rich in serine/threonine and proline
  • tyrosine residue at position 49 of homeodomain
  • C-terminus contains a canonical proline-rich domain
  • HOMOLOGY
    interspecies homolog to Drosophila BarH1
    ortholog to murine Barhl1
    Homologene
    FAMILY BarH homeogene family
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • controling the expression of neural adhesion molecule during embryonic development of both the central and peripherical nervous system
  • involved in the differentiation of neuronal progenitors implicated in the pattern formation of human cerebral and cerebellar structures
  • plays an essential role in the migration and survival of cerebellar granule cells and precerebellar neurons
  • may be involved in the differentiation of the specific subsets of neuronal progenitors
  • play an essential role in maintaining inner ear hair cells, cerebellar granule cells, and precerebellar neurons
  • crucially required for the survival but not for the specification of zonal layer neurons in the superior colliculus
  • having regulatory sequences required for cell-specific gene expression and autoregulation in the inner ear and central nervous system
  • BARHL1, BARHL2 share a conserved function as cell type-specific regulators of Caspase3 activities
  • homeodomain transcription factor known to regulate migration and survival of granule cell precursors (
  • important role in brain development, and potentially perturbations of thyroid hormone-mediated transcriptional control of BARHL1 may play a role in the impaired neurodevelopment induced by hypothyroidism
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • ATOH1 is a key upstream regulator in the inner ear and central nervous system
  • cell & other
    REGULATION
    activated by by the transcription factor ATOH1 which is involved in bone morphogenetic protein response pathways
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    its expression decelerates tumor growth in medulloblastomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene positional candidate gene for a form of Joubert syndrome
    Marker
    Therapy target
    ANIMAL & CELL MODELS