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FLASH GENE
Symbol KBTBD7 contributors: mct/npt - updated : 19-12-2009
HGNC name kelch repeat and BTB (POZ) domain containing 7
HGNC id 25266
Location 13q14.11      Physical location : 41.765.710 - 41.768.702
Synonym symbol(s) DKFZp434E2318
DNA
TYPE functioning gene
STRUCTURE 3.00 kb     1 Exon(s)
regulatory sequence Promoter
Binding site   transcription factor
text structure single TFII-I-binding consensus and multiple E-boxes were identified in the putative promoter region (also contains osmotic response elements and consensus binding sites for SMAD, STAT, and p300 transcription factors) (Makeyev 2009)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 3008 - 684 - Stelzl (2004)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Endocrineneuroendocrinepituitary  highly
Nervousbraindiencephalonhypothalamus highly
 brainlimbic systemhippocampus highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one BTB/POZ domain, near the N-terminus that mediates homomeric dimerisation (Makeyev 2009)
  • five Kelch repeat motifs
  • a BACK domain, for BTB and C-terminal Kelch domain present in the majority of proteins that contain both the BTB domain and kelch repeats, in BTB-kelch proteins (this domain is always found juxtaposed to the BTB/POZ domain and these two domains are likely to cooperate in the protein–protein interactions) (Makeyev 2009)
  • HOMOLOGY
    interspecies homolog to murine LOC211255
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • protein binding activity
  • likely involved in learning and memory
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • direct targets of TFII-I proteins (GTF2I and GTF2IRD1) and its impaired expression, as a result of the GTF2I and GTF2IRD1 haploinsufficiency, could contribute to the etiology of Williams syndrome (Makeyev 2009)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS