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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PHOSPHO1
phosphoethanolamine/phosphocholine phosphatase 1
Chromosome 17 · 17q21.32
NCBI Gene: 162466Ensembl: ENSG00000173868.12HGNC: HGNC:16815UniProt: Q8TCT1
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
phosphoethanolamine phosphatase activitypyrophosphatase activityprotein bindingphosphocholine phosphatase activityneurodegenerative diseaseAlzheimer diseasecoronary artery diseaseprostate cancer
✦AI Summary

PHOSPHO1 (phosphoethanolamine/phosphocholine phosphatase 1) is a cytosolic phosphatase that catalyzes hydrolysis of phosphoethanolamine (PEA) and phosphocholine (PCho) with high specific activity 1. The enzyme exhibits Mg2+-dependent activity with optimal function at pH 6.7, and also possesses phospholipase C activity toward phosphatidylcholine and phosphatidylethanolamine 2. PHOSPHO1 serves dual roles in bone mineralization and metabolic regulation. During skeletal development, PHOSPHO1 generates inorganic phosphate within matrix vesicles to initiate hydroxyapatite crystallization, functioning non-redundantly with TNAP/ALPL 3. Beyond mineralization, PHOSPHO1 regulates systemic energy metabolism: Phospho1-/- mice exhibit improved glucose homeostasis and resist high-fat-diet-induced obesity and diabetes, with mechanisms involving reduced serum choline levels and altered osteoblast gene expression 4. PHOSPHO1 also suppresses ferroptosis in retinal pigment epithelial cells by reducing phosphatidylethanolamine levels and intracellular iron accumulation, suggesting therapeutic potential for age-related macular degeneration 5. In pathological contexts, NR4A3-mediated upregulation of PHOSPHO1 promotes vascular calcification through histone lactylation-dependent transcriptional mechanisms 6. PHOSPHO1 loss-of-function in humans may cause dentoalveolar manifestations resembling pseudohypophosphatasia 3, establishing PHOSPHO1 as a multifunctional enzyme linking bone metabolism to systemic disease processes.

Sources cited
1
PHOSPHO1 exhibits high specific phosphoethanolamine and phosphocholine phosphatase activities with Mg2+-dependence
PMID: 15175005
2
PHOSPHO1 possesses phospholipase C activities toward phosphatidylcholine and phosphatidylethanolamine
PMID: 39992810
3
PHOSPHO1 generates inorganic phosphate in matrix vesicles for hydroxyapatite initiation and functions non-redundantly with TNAP
PMID: 36185572
4
Phospho1-/- mice exhibit improved glucose homeostasis and resistance to high-fat-diet-induced obesity and diabetes with reduced serum choline
PMID: 33092598
5
PHOSPHO1 suppresses ferroptosis in retinal pigment epithelial cells by reducing phosphatidylethanolamine levels and iron accumulation
PMID: 40396905
6
NR4A3 upregulates PHOSPHO1 to promote vascular calcification through histone lactylation mechanisms
PMID: 38629274
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
Alzheimer diseaseOpen Targets
0.30Weak
coronary artery diseaseOpen Targets
0.21Weak
prostate cancerOpen Targets
0.20Weak
asthmaOpen Targets
0.20Weak
gastroesophageal reflux diseaseOpen Targets
0.18Weak
Myocardial IschemiaOpen Targets
0.17Weak
coronary atherosclerosisOpen Targets
0.17Weak
WheezingOpen Targets
0.08Suggestive
Hypocalcemic vitamin D-resistant ricketsOpen Targets
0.07Suggestive
Hypocalcemic vitamin D-dependent ricketsOpen Targets
0.07Suggestive
chronic kidney diseaseOpen Targets
0.06Suggestive
multiple epiphyseal dysplasia type 1Open Targets
0.06Suggestive
angina pectorisOpen Targets
0.06Suggestive
metaphyseal chondrodysplasia, Spahr typeOpen Targets
0.06Suggestive
hereditary hypophosphatemic rickets with hypercalciuriaOpen Targets
0.06Suggestive
Bruck syndromeOpen Targets
0.06Suggestive
spondyloepimetaphyseal dysplasia with multiple dislocationsOpen Targets
0.06Suggestive
X-linked hypophosphatemiaOpen Targets
0.06Suggestive
multiple epiphyseal dysplasia type 5Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACHEProtein interaction91%CHATProtein interaction91%CHKAProtein interaction91%CHKBProtein interaction91%PCYT1AProtein interaction91%PCYT2Protein interaction91%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
29%
Brain
19%
Liver
8%
Heart
5%
Ovary
2%
Gene Interaction Network
Click a node to explore
PHOSPHO1ACHECHATCHKACHKBPCYT1APCYT2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TCT1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.31LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.67 [0.36–1.31]
RankingsWhere PHOSPHO1 stands among ~20K protein-coding genes
  • #13,480of 20,598
    Most Researched23
  • #13,790of 17,882
    Most Constrained (LOEUF)1.31
Genes detectedPHOSPHO1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Orphan Nuclear Receptor NR4A3 Promotes Vascular Calcification via Histone Lactylation.
PMID: 38629274
Circ Res · 2024
1.00
2
Human PHOSPHO1 exhibits phosphatidylcholine- and phosphatidylethanolamine-phospholipase C activities and interacts with diacylglycerol kinase δ.
PMID: 39992810
FEBS Lett · 2025
0.90
3
The emerging roles of PHOSPHO1 and its regulated phospholipid homeostasis in metabolic disorders.
PMID: 35957983
Front Physiol · 2022
0.80
4
Probing the substrate specificities of human PHOSPHO1 and PHOSPHO2.
PMID: 16054448
Biochim Biophys Acta · 2005
0.70
5
Human PHOSPHO1 exhibits high specific phosphoethanolamine and phosphocholine phosphatase activities.
PMID: 15175005
Biochem J · 2004
0.60