Version: 8.0.0Date: Tue Jan 28 2025
Gene
ALPL
- Species
- Homo sapiens
- Symbol
- ALPL
- Name
- alkaline phosphatase, biomineralization associated
- Synonyms
- alkaline phosphatase liver/bone/kidney isozyme
- alkaline phosphatase, liver/bone/kidney
- Biotype
- protein coding gene
- Automated Description
- Enables calcium ion binding activity; phosphatase activity; and pyrophosphatase activity. Involved in calcium ion homeostasis and response to vitamin D. Located in extracellular exosome and membrane. Is active in plasma membrane. Implicated in adult hypophosphatasia; childhood hypophosphatasia; hypophosphatasia; and infantile hypophosphatasia. Biomarker of arteriosclerosis; familial combined hyperlipidemia; in situ carcinoma; and steatotic liver disease.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11596
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr1:21508984...21578410 + (69.43 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.