Literature summary for 3.1.3.1 extracted from

Makita, S.; Al-Shawafi, H.A.; Sultana, S.; Sohda, M.; Nomura, S.; Oda, K.
A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia (2012), FEBS J., 279, 4327-4337.

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Cloned(Commentary)

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

Protein Variants

Protein Variants	Comment	Organism
G420A	naturally occuring mutant, reported in perinatal and childhood hypophosphatasia. Mutant lacks its alkaline phosphatase activity	Homo sapiens
G420S	naturally occuring mutant, reported in perinatal and childhood hypophosphatasia. Mutant lacks its alkaline phosphatase activity, although mutant protein is anchored to the cell surface lipid bilayers by glycosylphosphatidylinositol as an 80 kDa mature form bearing complex-type oligosaccharides similar to wild-type. Mutant G420S largely fails to assemble into the homodimer in contrast to wild-type	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
cell surface	-	Homo sapiens	9986	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P05186	-	-

Synonyms

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

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Release 2023.1 (January 2023)