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FLASH GENE
Symbol PKHD1L1 contributors: SGE/npt - updated : 25-06-2010
HGNC name polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1
HGNC id 20313
Location 8q23.2      Physical location : 110.374.705 - 110.543.499
Synonym name
  • fibrocystin L
  • PKHD1-like protein 1
  • polycystic kidney and hepatic disease 1-like protein 1
  • Synonym symbol(s) PKHDL1, DKFZp586C1021
    DNA
    TYPE functioning gene
    STRUCTURE 168.79 kb     78 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    78 - 14017 - 4243 - Hogan (2003)
    precursor
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Lymphoid/Immunespleen    
     thymus    
    Nervousbrain    
    Reproductivefemale systemovary   
     male systemprostate   
    Urinarykidney    
    Visualeyeanterior segmentiris  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two G8 domains
  • 14 IPT/TIG domains
  • a short cytoplasmic tail
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Pkhdl1 (82.0pc)
    intraspecies homolog to TMEM2
    Homologene
    FAMILY
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • possible role on cellular immunity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS