ALPL
Summary: This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| alkaline phosphatase, liver/bone/kidney | MIM:171760 | Ensembl:ENSG00000162551 | HGNC:HGNC:438 | PA24729 | 1p36.12 |
Gene Categories:
DRUGGABLE GENOMEGO terms in ALPL
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0004035 | alkaline phosphatase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0016462 | pyrophosphatase activity |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | TAS | GO:0001501 | skeletal system development |
| BP | HDA | GO:0001649 | osteoblast differentiation |
| BP | IEA | GO:0001958 | endochondral ossification |
| BP | IEA | GO:0003006 | developmental process involved in reproduction |
| BP | IEA | GO:0016311 | dephosphorylation |
| BP | IEA | GO:0032496 | response to lipopolysaccharide |
| BP | IEP | GO:0033280 | response to vitamin D |
| BP | IEA | GO:0046677 | response to antibiotic |
| BP | IEA | GO:0051384 | response to glucocorticoid |
| BP | IEA | GO:0071407 | cellular response to organic cyclic compound |
| BP | IEA | GO:0071529 | cementum mineralization |
| CC | TAS | GO:0005576 | extracellular region |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | HDA | GO:0016020 | membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0031225 | anchored component of membrane |
| CC | IEA | GO:0065010 | extracellular membrane-bounded organelle |
| CC | HDA | GO:0070062 | extracellular exosome |
Gene expression in normal tissue: ALPL
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ALPL
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-163125 | Post-translational modification: synthesis of GPI-anchored proteins |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-597592 | Post-translational protein modification |
| biocarta | npp1pathway | regulators of bone mineralization |
| kegg | hsa00730 | Thiamine metabolism - Homo sapiens (human) |
| kegg | hsa00790 | Folate biosynthesis - Homo sapiens (human) |
| netpath | Pathway_TNFalpha | TNFalpha |
| smpdb | SMP00017 | Vitamin B6 Metabolism |
| smpdb | SMP00503 | Hypophosphatasia |
| wikipathways | WP2324 | AGE-RAGE pathway |
| wikipathways | WP2380 | Brain-Derived Neurotrophic Factor (BDNF) signaling pathway |
| wikipathways | WP3413 | NOTCH1 regulation of human endothelial cell calcification |
| wikipathways | WP3971 | Role of Osx and miRNAs in tooth development |
| wikipathways | WP474 | Endochondral Ossification |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALPL
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