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 |
|---|---|---|---|---|---|
OMIM IDMIM:171760 Ensembl IDEnsembl:ENSG00000162551 HGNC IDHGNC:HGNC:438 PHARMGKB IDPA24729 Map Location1p36.12 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ALPL
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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