MGP Database

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MGP000134

UniProt Annotations

Entry Information
Gene Namealkaline phosphatase, liver/bone/kidney
Protein EntryPPBT_HUMAN
UniProt IDP05186
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P05186-1; Sequence=Displayed; Name=2; IsoId=P05186-2; Sequence=VSP_042711; Note=No experimental confirmation available.; Name=3; IsoId=P05186-3; Sequence=VSP_044228;
Catalytic ActivityA phosphate monoester + H(2)O = an alcohol + phosphate. {ECO:0000255|PROSITE-ProRule:PRU10042}.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250}; Note=Binds 1 Mg(2+) ion. {ECO:0000250};
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000250}; Note=Binds 2 Zn(2+) ions. {ECO:0000250};
DiseaseHypophosphatasia childhood type (HOPSC) [MIM:241510]: A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHypophosphatasia (HOPS) [MIM:146300]: A metabolic bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Four forms are distinguished, depending on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is almost always fatal. The adult form is mild and characterized by recurrent fractures, osteomalacia, rickets, and loss of teeth. Some cases are asymptomatic, while some patients manifest dental features without skeletal manifestations (odontohypophosphatasia). {ECO:0000269|PubMed:10094560, ECO:0000269|PubMed:10332035, ECO:0000269|PubMed:10679946, ECO:0000269|PubMed:10690885, ECO:0000269|PubMed:10834525, ECO:0000269|PubMed:11438998, ECO:0000269|PubMed:11745997, ECO:0000269|PubMed:11760847, ECO:0000269|PubMed:11834095, ECO:0000269|PubMed:11855933, ECO:0000269|PubMed:11999978, ECO:0000269|PubMed:12815606, ECO:0000269|PubMed:12920074, ECO:0000269|PubMed:1409720, ECO:0000269|PubMed:15135428, ECO:0000269|PubMed:15694177, ECO:0000269|PubMed:3174660, ECO:0000269|PubMed:7833929, ECO:0000269|PubMed:8406453, ECO:0000269|PubMed:8954059, ECO:0000269|PubMed:9452105, ECO:0000269|PubMed:9747027, ECO:0000269|PubMed:9781036}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHypophosphatasia infantile type (HOPSI) [MIM:241500]: A severe bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionThis isozyme may play a role in skeletal mineralization.
InteractionQ99558:MAP3K14; NbExp=4; IntAct=EBI-1054354, EBI-358011;
PtmGlycosylated. {ECO:0000269|PubMed:1458595, ECO:0000269|PubMed:19159218}.
Sequence CautionSequence=BAD93051.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the alkaline phosphatase family. {ECO:0000305}.
Subcellular LocationCell membrane; Lipid-anchor, GPI-anchor.
SubunitHomodimer.
Web ResourceName=ALPL; Note=Tissue nonspecific alkaline phosphatase gene mutations database; URL="http://www.sesep.uvsq.fr/Database.html";
Web ResourceName=Wikipedia; Note=Alkaline phosphatase entry; URL="http://en.wikipedia.org/wiki/Alkaline_phosphatase";
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