ID:PPBT_HUMAN DESCRIPTION: RecName: Full=Alkaline phosphatase, tissue-nonspecific isozyme; Short=AP-TNAP; Short=TNSALP; EC=3.1.3.1; AltName: Full=Alkaline phosphatase liver/bone/kidney isozyme; Flags: Precursor; FUNCTION: This isozyme may play a role in skeletal mineralization. CATALYTIC ACTIVITY: A phosphate monoester + H(2)O = an alcohol + phosphate. COFACTOR: Binds 1 magnesium ion (By similarity). COFACTOR: Binds 2 zinc ions (By similarity). SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. PTM: Glycosylated. DISEASE: Defects in ALPL are a cause of hypophosphatasia (HOPS) [MIM:146300]. HOPS is an inherited metabolic bone disease characterized by defective skeletal mineralization. Four hypophosphatasia 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. Patients with only premature loss of deciduous teeth, but with no bone disease are regarded as having odontohypophosphatasia (odonto). DISEASE: Defects in ALPL are a cause of hypophosphatasia childhood type (HOPSC) [MIM:241510]. DISEASE: Defects in ALPL are a cause of hypophosphatasia infantile type (HOPSI) [MIM:241500]. SIMILARITY: Belongs to the alkaline phosphatase family. SEQUENCE CAUTION: Sequence=BAD93051.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; WEB RESOURCE: Name=ALPL; Note=Tissue nonspecific alkaline phosphatase gene mutations database; URL="http://www.sesep.uvsq.fr/Database.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALPL"; WEB RESOURCE: Name=Wikipedia; Note=Alkaline phosphatase entry; URL="http://en.wikipedia.org/wiki/Alkaline_phosphatase";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P05186
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001501 skeletal system development GO:0001649 osteoblast differentiation GO:0001958 endochondral ossification GO:0003006 developmental process involved in reproduction GO:0008152 metabolic process GO:0016311 dephosphorylation GO:0031214 biomineral tissue development GO:0032496 response to lipopolysaccharide GO:0033280 response to vitamin D GO:0046677 response to antibiotic GO:0051384 response to glucocorticoid GO:0071407 cellular response to organic cyclic compound GO:0071529 cementum mineralization