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FLASH GENE
Symbol BRWD1 contributors: - updated : 12-01-2006
HGNC name bromodomain and WD repeat domain containing 1
HGNC id 12760
Location 21q22.2      Physical location : 40.557.403 - 40.685.556
Synonym name
  • gene homolog to cAMP response element binding and beta-tranducin family
  • WD repeat domain 9
    • Synonym symbol(s) C21orf107, N143, 90/3H1, FLJ11315, WDR9
    DNA
    TYPE functioning gene
    STRUCTURE 128.00 kb     43 Exon(s)
    MAPPING cloned Y linked N status provisional
    regionally located located within the Down syndrome region-2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 7944 257.2 2269 - Scott (unpublished)
    differring from variant 1 at the 3' end including a part of the coding region and the entire UTR, encoding isoform B
    - splicing 2488 - 120 - Ramos
    lacking multiple 3' exons and having a much shorter and alternate 3' sequence, the encoded isoform C has a much shorter and distinct C-terminus, as compared to isoform A
    - - 8670 - 2320 - Scott
    isoform A
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight WD repeats in the N terminal region
  • two C terminal bromodomains
    • HOMOLOGY
    interspecies homolog to murine Brwd1
    Homologene
    FAMILY
  • beta transducin family
  • WD repeat protein family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • cell autonomous regulator oflin-12/notch mediated signaling
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS