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FLASH GENE
Symbol PLEKHB1 contributors: npt/ - updated : 11-04-2007
HGNC name pleckstrin homology domain containing, family B (evectins) member 1
HGNC id 19079
Location 11q13.5-q14.1      Physical location : 73.357.222 - 73.373.862
Synonym name
  • PH domain containing, retinal 1
  • PH domain containing protein in retina 1
  • evectin 1
  • Synonym symbol(s) KPL1, PHR1, PHRET1, EVT1
    DNA
    TYPE functioning gene
    STRUCTURE 16.64 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence alternative promoter
    text structure
  • the more 5-prime promoter appears to function only in retina and contains at least 3 copies of the photoreceptor-specific CRX element
  • an internal promoter located in intron 2
  • MAPPING cloned Y linked N status provisional
    Map cen - D11S916 - EVT1 - D11S911 - qter
    Authors Krappa (99)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - splicing 2402 27 243 - XU
  • a pleckstrin homology domain at their N terminus
  • a transmembrane domain at their C terminus
  • originates from a 5'-photoreceptor-specific promoter with at least three Crx elements ((C/T)TAATCC)
  • - splicing 2297 - 208 - Xu
  • a pleckstrin homology domain at their N terminus
  • a transmembrane domain at their C terminus
  • originates from a 5'-photoreceptor-specific promoter with at least three Crx elements ((C/T)TAATCC) like variant 1
  • lacks exon 7, which encodes 35 amino acids immediately C-terminal to the pleckstrin homology domain
  • - splicing 2031 25 224 - Xu
  • a pleckstrin homology domain at their N terminus
  • a transmembrane domain at their C terminus
  • originates from an internal promoter in intron 2
  • - splicing 1926 21 189 - Xu
  • a pleckstrin homology domain at their N terminus
  • a transmembrane domain at their C terminus
  • originates from an internal promoter in intron 2
  • lacks exon 7, which encodes 35 amino acids immediately C-terminal to the pleckstrin homology domain
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrainmidbrainsubstantia nigra highly
    Skin/Tegumentskin   moderately
    Visualeyeretina  highly
     eyeuveachoroid highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell
    Hearing / Equilibriumepithelial cell
    Nervousoptic nerve
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pleckstrin homology domain at their N terminus
  • a transmembrane domain at their C terminus
  • HOMOLOGY
    interspecies ortholog to rattus Plekhb1
    ortholog to murine Plekhb1
    Homologene
    FAMILY
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • may be modulating the phototransduction pathway
  • may have a unique role in ciliated cell differentiation or function
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • transducin
  • directly interacts with two myosins, MYO7A, MYO1C via the PH domain (playing a role in anchoring the actin cytoskeleton to the plasma membrane of these cells)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS