InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALPL

Summary

InnateDB Protein

IDBP-585147.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ALPL

Protein Name

alkaline phosphatase, liver/bone/kidney

Synonyms

AP-TNAP; APTNAP; HOPS; TNAP; TNSALP;

Species

Homo sapiens

Ensembl Protein

ENSP00000437674

InnateDB Gene

IDBG-93194 (ALPL)

Protein Structure

UniProt Annotation

Function

This isozyme may play a role in skeletal mineralization.

Subcellular Localization

Cell membrane; Lipid-anchor, GPI-anchor.

Disease Associations

Hypophosphatasia (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:0000269PubMed:10094560, ECO:0000269PubMed:10332035, ECO:0000269PubMed:10679946, ECO:0000269PubMed:10690885, ECO:0000269PubMed:10834525, ECO:0000269PubMed:11438998, ECO:0000269PubMed:11745997, ECO:0000269PubMed:11760847, ECO:0000269PubMed:11834095, ECO:0000269PubMed:11855933, ECO:0000269PubMed:11999978, ECO:0000269PubMed:12815606, ECO:0000269PubMed:12920074, ECO:0000269PubMed:1409720, ECO:0000269PubMed:15135428, ECO:0000269PubMed:15694177, ECO:0000269PubMed:3174660, ECO:0000269PubMed:7833929, ECO:0000269PubMed:8406453, ECO:0000269PubMed:8954059, ECO:0000269PubMed:9452105, ECO:0000269PubMed:9747027, ECO:0000269PubMed:9781036}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hypophosphatasia 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.Hypophosphatasia 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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004035	alkaline phosphatase activity
GO:0005515	protein binding
GO:0016462	pyrophosphatase activity
GO:0016791	phosphatase activity
GO:0046872	metal ion binding

Biological Process

GO:0001501	skeletal system development
GO:0001649	osteoblast differentiation
GO:0008152	metabolic process
GO:0033280	response to vitamin D

Cellular Component

GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031225	anchored component of membrane
GO:0070062	extracellular vesicular exosome