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MIRAGE
alkaline phosphatase, biomineralization associated
Summary
- Gene Symbol
-
- ALPL
- Aliases
-
- TNALP
- TNAP
- TNSALP
- tissue non-specific alkaline phosphatase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Biomineralization
- Calcium
- Cell membrane
- Direct protein sequencing
- Disease variant
- Disulfide bond
- GPI-anchor
- Hydrolase
- Magnesium
- Metal-binding
- Mitochondrion
- Phosphoprotein
- Reference proteome
- Signal
- Zinc
- Proteins
| UniProt | Protein Name |
|---|---|
| P05186 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| skeletal system development | ||
| osteoblast differentiation | ||
| endochondral ossification | ||
| developmental process involved in reproduction | ||
| cellular homeostasis |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| mitochondrial intermembrane space | ||
| plasma membrane | ||
| plasma membrane | ||
| plasma membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| alkaline phosphatase activity | ||
| alkaline phosphatase activity | ||
| inorganic diphosphate phosphatase activity | ||
| calcium ion binding | ||
| pyrophosphatase activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- alkaline phosphatase
- Functional Category
-
- I: Lipid transport and metabolism
- T: Signal transduction mechanisms
- V: Defense mechanisms
| Gene Ontology |
|---|
| alkaline phosphatase activity |
| dephosphorylation |
| hydrolase activity |
| metal ion binding |
| InterPro |
|---|
| Alkaline phosphatase, active site |
| Alkaline phosphatase |
| Alkaline-phosphatase-like, core domain superfamily |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110913 | adult hypophosphatasia | |
| DOID:0110914 | infantile hypophosphatasia | |
| DOID:0110915 | childhood hypophosphatasia | |
| DOID:14213 | hypophosphatasia |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000121 | Nephrocalcinosis |
| HP:0000164 | Abnormality of the dentition |
| HP:0000268 | Dolichocephaly |
| HP:0000520 | Proptosis |
| HP:0000592 | Blue sclerae |
| HP:0000670 | Carious teeth |
| HP:0000737 | Irritability |
| HP:0000773 | Short ribs |
| Disease ID | Disease Name |
|---|---|
| OMIM:241510 |
|
| OMIM:241500 |
|
| OMIM:146300 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 248 | SGD:S000002889 | ||
| 249 | Xenbase:XB-GENE-1010301 | ||
| 250 | SGD:S000002889 | ||
| 251 | SGD:S000002889 | ||
| 11647 | Xenbase:XB-GENE-1010301 | MOUSE41351 | |
| 11650 | SGD:S000002889 | ||
| 25586 | Xenbase:XB-GENE-1010301 | RATNO32949 | |
| 43671 | Xenbase:XB-GENE-1010301 | ||
| 76768 | SGD:S000002889 | ||
| 280994 | BOVIN25254 |
