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FLASH GENE
Symbol PHLDB1 contributors: mct - updated : 10-12-2015
HGNC name pleckstrin homology-like domain, family B, member 1
HGNC id 23697
Location 11q23.3      Physical location : 118.477.212 - 118.528.741
Synonym name
  • cDNA sequence, expressed in brain, >100kDa
  • homolog to rat LL5 protein
  • Synonym symbol(s) LL5A, FLJ00141, KIAA0638
    DNA
    TYPE functioning gene
    STRUCTURE 51.60 kb     23 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 splicing 5702 - 1377 - 2003 14532993
    23 splicing 5479 - 1377 - 2003 14532993
    exon 1-23
    21 - 5305 - 1319 - 2003 14532993
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a forkhead associated (FHA) domain
  • a bipartite nuclear localization signal (NLS)
  • chromosome segregation ATPases (SMC) domain
  • a pleckstrin homology (PH) domain
  • HOMOLOGY
    interspecies homolog to rattus LL5 protein
    intraspecies homolog to PHLDB2
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • may be a transducer of PtdIns (3,4,5)P3 levels to the intracellular trafficking system
  • PHLDB1 and PHLDB2 are required, together with PPFIA1, for effective migration and tumor cell invasion, and do so by stabilizing the protrusive activity at the cell front
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to Glioblastoma (GBM)
    Variant & Polymorphism significant association between variant TT genotype of PHLDB1 rs498872 and GBM development
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS