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FLASH GENE
Symbol ALPL contributors: mct - updated : 07-12-2016
HGNC name alkaline phosphatase, liver/bone/kidney
HGNC id 438
Corresponding disease
HOPS1 hypophosphatasia 1
Location 1p36.12      Physical location : 21.835.857 - 21.904.904
Synonym name
  • glycerophosphatase
  • tissue-nonspecific alkaline phosphatase
  • liver/bone/kidney isozyme
    • Synonym symbol(s) TNSALP, HOPS, AP-TNAP, FLJ40094, TNAP
    EC.number 3.1.3.1
    DNA
    TYPE functioning gene
    STRUCTURE 69.43 kb     12 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map pter - ALPL ,HOPS1 - FUCA1 - RH - D1S57 - SLC2A1 SLC2A1 - MYCL1 - D1S15 - cen
    Authors CEPH (91)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2613 - 524 - 2015 25775211
    11 - 2448 - 469 - 2015 25775211
    10 - 2332 - 447 - 2015 25775211
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   moderately
    Nervousbrain   moderately Homo sapiens
    Reproductivemale systemprostate  moderately
    Respiratorylung   highly
    Urinarykidney    
    Visualeyeretina    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • five potential N-glycosylation sites at N140, N230, N271, N303 and N430
  • a complex of identical subunits, each subunit containing one active site
  • two zinc Zn2+ molecules and magnesium Mg2+ as a cofactor
    • conjugated GlycoP , MetalloP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Akp2
    homolog to Drosophila CG5656
    homolog to C.elegans C15B12.4
    Homologene
    FAMILY alkaline phosphatase proteins family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    text
  • membrane bound glycosylated enzyme
  • anchored to the external surface of the plasma membranes by means of a GPI (glycosylphosphatidylinositol) anchor
    • basic FUNCTION
  • involved in matrix mineralization
  • regulating both ligand availability and protein expression of P2RX7, is essential for axonal development
  • regulates inhibitory extracellular pyrophosphate through its pyrophosphatase activity to control mineral propagation in the matrix
  • prominent non-redundant roles for both PHOSPHO1 and ALPL in dentin mineralization
  • associated with earliest cementoblasts near forming acellular and cellular cementum
  • during skeletal mineralization, the building Ca2+ gradient first activates ALPL, but gradually inactivates it at high Ca2+ concentrations, toward completion of mineralization
  • is present on neuronal membranes and induces neuronal toxicity via MAPT dephosphorylation
  • GPI-anchored ALPL can likely give rise to long reaching modifications that could influence membrane processes halfway through the bilayer
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text skeletal development
    PATHWAY
    metabolism
    signaling
    metabolism phosphocalcic
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • zinc Zn2+
  • magnesium Mg2+
    • protein
  • cooperative zinc handling of SLC30A4, metallothionein and SLC30A1 in the cytoplasm is required for full activation of ALPL in the early secretory pathway (ESP), and present clear evidence that the activation process of zinc enzymes is elaborately controlled
  • FRP2 may promote cardiac fibrocalcification through coordinate activation of tolloid-like metalloproteinases and ALPL
  • ACPT is expressed earlier than tissue-nonspecific alkaline phosphatase (ALPL) and partly overlaps with ALPL in differentiating odontoblasts
    • cell & other
    REGULATION
    Other is activated not simply by passive zinc binding but by an elaborate two-step mechanism via protein stabilization followed by enzyme conversion from the apo- to the holo-form with zinc loaded by ZnT complexes in the early secretory pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) HOPS1
    related resource Tissue Nonspecific Alkaline Phosphatase Gene Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    in cancer cells, seminoma
    constitutional       gain of function
    its activity is significantly increased in the brain in both the sporadic and familial forms of Alzheimer disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS