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Literature summary for 3.1.3.1 extracted from

  • Satou, Y.; Al-Shawafi, H.A.; Sultana, S.; Makita, S.; Sohda, M.; Oda, K.
    Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia (2012), Biochim. Biophys. Acta, 1822, 581-588.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
transient expression in COS-1 cell Homo sapiens

Protein Variants

Protein Variants Comment Organism
C201Y mutation identified in patient diagnosed with perinatal hypophosphatasia. Mutants exhibit a diminished alkaline phosphatase activity in the cells, where a 66 kDa immature form is predominant with a marginal amount of a 80 kDa mature form. The 66 kDa form exists as a monomer in contrast to a dimer form of wild-type. Only a small fraction of the mutant protein reaches cell surface as the 80 kDa mature form, most of the 66 kDa form is found to be endo-beta-N-acetylglucosaminidase H sensitive and rapidly degraded in proteasome following polyubiquitination Homo sapiens
C489S mutation identified in patient diagnosed with perinatal hypophosphatasia. Mutants exhibit a diminished alkaline phosphatase activity in the cells, where a 66 kDa immature form is predominant with a marginal amount of a 80 kDa mature form Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P05186
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Synonyms

Synonyms Comment Organism
tissue-nonspecific alkaline phosphatase
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Homo sapiens
TNSALP
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Homo sapiens