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alkaline phosphatase-L (liver/kidney/bone, tissue-nonspecific alkaline phosphatase, ALPL)
Function:
- may play a role in skeletal mineralization
phosphate monoester + H2O an alcohol + phosphate
Cofactor:
- binds 1 Mg+2 (putative)
- binds 2 Zn+2 (putative)
Structure:
- glypiated protein
- homodimer
- belongs to the alkaline phosphatase family
Compartment: cell membrane, lipid-anchor, GPI-anchor
Pathology:
- defects in ALPL are a cause of familial hypophosphatasia, infantile, childhood & adult forms
Laboratory:
- ALPL gene mutation
Pharmacology:
- asfotase alfa (Strensiq) is a recombinant protein used as replacement therapy in familial hypophosphatasia [6]
Notes:
- in most mammals there are four different isozymes: placental, placental-like, intestinal & tissue non-specific (liver/bone/kidney)
Related
alkaline phosphatase (ALP) in serum/plasma
leukocyte alkaline phosphatase (LAP)
General
alkaline phosphatase
glypiated protein
Properties
SIZE: entity length = 524 aa
MW = 57 kD
COMPARTMENT: plasma membrane
CELL-REGION: apical region
CELL: epithelial cell
WITHIN: liver
kidney
bone
MOTIF: signal sequence {1-17}
Mg+2-binding site
SITE: 60-60
MOTIF: Zn+2-binding site
SITE: 60-60
serine residue {S110}
N-glycosylation site {N140}
Mg+2-binding site
SITE: 173-173
N-glycosylation site {N230}
N-glycosylation site {N271}
N-glycosylation site {N303}
Mg+2-binding site
SITE: 332-332
Zn+2-binding site
SITE: 337-337
Zn+2-binding site
SITE: 341-341
Zn+2-binding site
SITE: 378-378
Zn+2-binding site
SITE: 379-379
N-glycosylation site {N430}
Zn+2-binding site
SITE: 454-454
glycosyl phosphatidylinositol [GPI] membrane anchor {N502}
Database Correlations
OMIM correlations
MORBIDMAP 171760
UniProt P05186
Pfam PF00245
KEGG correlations
ENZYME 3.1.3.1
References
- OMIM :accession 171760
- ALPL, Tissue nonspecific alkaline phosphatase gene mutations database
http://www.sesep.uvsq.fr/Database.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=ALPL
- Wikipedia; note=alkaline phosphatase entry
http://en.wikipedia.org/wiki/alkaline_phosphatase
- UniProt :accession P05186
- FDA News Release. October 23, 2015
FDA approves new treatment for rare metabolic disorder.
http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm468836.htm