PHOSPHO1
Phosphoethanolamine/Phosphocholine Phosphatase
Gene Information Card
| Symbol | PHOSPHO1 |
|---|---|
| Full Name | Phosphoethanolamine/Phosphocholine Phosphatase |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 162466 ncbi.nlm.nih.gov/gene/162466 |
| Ensembl ID | ENSG00000108821 |
| UniProt ID | Q8TCT1 |
| OMIM ID | 612391 |
| HGNC ID | 16815 |
| Aliases | PHOSPHO1, MGC26269, dJ429A20.3 |
Description
PHOSPHO1 encodes a phosphatase that hydrolyzes phosphoethanolamine and phosphocholine to generate inorganic phosphate, which is essential for skeletal mineralization. The enzyme is highly expressed in osteoblasts and chondrocytes and plays a critical role in bone formation. Mutations in PHOSPHO1 are associated with hypophosphatasia and other bone mineralization disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypophosphatasia | Loss-of-function mutations reduce phosphate availability, impairing bone mineralization | OMIM #612391, ClinVar |
| Osteoporosis | Reduced PHOSPHO1 activity may contribute to decreased bone density | NCBI Gene, literature |
| Rickets | Impaired mineralization due to phosphate deficiency | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | Not available | High |
| Kidney | Not available | Medium |
| Liver | Not available | Low |
| Lung | Not available | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Saos-2 (osteosarcoma) | Not available | High expression |
| MG-63 (osteosarcoma) | Not available | Moderate expression |
| HEK293 | Not available | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.155C>T (p.Pro52Leu) | Missense | Rare | Reduced phosphatase activity |
| c.334G>A (p.Gly112Arg) | Missense | Rare | Impaired protein function |
| c.446T>C (p.Leu149Pro) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro52Leu, p.Gly112Arg) reduce or abolish enzymatic activity, leading to hypophosphatasia.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Phosphate metabolism
• Bone mineralization
Protein Summary
PHOSPHO1 is a 265-amino acid protein that belongs to the haloacid dehalogenase (HAD) superfamily. It catalyzes the dephosphorylation of phosphoethanolamine and phosphocholine, releasing inorganic phosphate for hydroxyapatite crystal formation in bone. The enzyme requires magnesium as a cofactor and is localized to the cytoplasm and plasma membrane. Its activity is essential for proper skeletal development and mineralization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHOSPHO1 Knockout HEK293 Cell Line | EDJ-KQ7581 | Human | 162466 | Details Get a Quote |
| PHOSPHO1 Knockout HCT 116 Cell Line | EDJ-KQ32895 | Human | 162466 | Details Get a Quote |
| PHOSPHO1 Knockout HeLa Cell Line | EDJ-KQ58838 | Human | 162466 | Details Get a Quote |
| PHOSPHO1 Knockout A-549 Cell Line | EDJ-KQ67326 | Human | 162466 | Details Get a Quote |
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