ALPP
Alkaline Phosphatase, Placental
Gene Information Card
| Symbol | ALPP |
|---|---|
| Full Name | Alkaline Phosphatase, Placental |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 250 ncbi.nlm.nih.gov/gene/250 |
| Ensembl ID | ENSG00000163286 |
| UniProt ID | P05187 |
| OMIM ID | 171800 |
| HGNC ID | 438 |
| Aliases | PLAP, PLAP-1, ALP, PALP |
Description
ALPP encodes placental alkaline phosphatase (PLAP), a membrane-bound glycosylated enzyme that hydrolyzes phosphate esters. It is expressed primarily in the placenta and is elevated in serum during pregnancy. PLAP is also a tumor marker for certain cancers, including seminoma and ovarian cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Placental alkaline phosphatase deficiency | Loss of ALPP function leads to reduced enzyme activity in placenta | OMIM 171800 |
| Seminoma | Elevated ALPP expression in testicular germ cell tumors | COSMIC, ClinVar |
| Ovarian cancer | Increased serum ALPP levels in some ovarian cancers | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | >1000 | High |
| Testis | 0.2 | Low |
| Ovary | 0.1 | Low |
| Lung | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
| JEG-3 (choriocarcinoma) | >1000 | High expression |
| BeWo (choriocarcinoma) | >500 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.155C>T (p.Pro52Leu) | Missense | <0.01% | Reduced enzyme activity |
| c.346G>A (p.Gly116Arg) | Missense | <0.01% | Loss of function |
| c.979C>T (p.Arg327Cys) | Missense | <0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Pro52Leu, p.Gly116Arg) reduce or abolish phosphatase activity.
Gain of Function (GOF)
Not reported in ALPP.
Dominant Negative (DN)
Not reported in ALPP.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004035 alkaline phosphatase activity | • GO:0016791 phosphatase activity |
| • GO:0005886 plasma membrane | • GO:0005576 extracellular region |
| • GO:0016311 dephosphorylation |
Pathways
• Phosphate metabolism
• GPI-anchor biosynthesis (indirect)
Protein Summary
Placental alkaline phosphatase (PLAP) is a 513-amino acid protein (UniProt P05187) anchored to the plasma membrane via a glycosylphosphatidylinositol (GPI) anchor. It functions as a homodimer, catalyzing the hydrolysis of phosphate monoesters at alkaline pH. PLAP is heat-stable and resistant to inhibition by L-phenylalanine, distinguishing it from other alkaline phosphatase isozymes. It plays a role in placental nutrient transport and is a clinical biomarker for pregnancy and certain malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALPP Knockout HEK293 Cell Line | EDJ-KQ2874 | Human | 250 | Details Get a Quote |
| GPALPP1 Knockout HEK293 Cell Line | EDJ-KQ13647 | Human | 55425 | Details Get a Quote |
| GPALPP1 Knockout HCT 116 Cell Line | EDJ-KQ42075 | Human | 55425 | Details Get a Quote |
| ALPP Knockout HeLa Cell Line | EDJ-KQ23915 | Human | 250 | Details Get a Quote |
| GPALPP1 Knockout A-549 Cell Line | EDJ-KQ43329 | Human | 55425 | Details Get a Quote |
| GPALPP1 Knockout HeLa Cell Line | EDJ-KQ43330 | Human | 55425 | Details Get a Quote |
| ALPP Knockout A-549 Cell Line | EDJ-KQ61080 | Human | 250 | Details Get a Quote |
| ALPP Knockout HCT 116 Cell Line | EDJ-KQ69562 | Human | 250 | Details Get a Quote |
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