ENTPD1
Function
Catalyzes the hydrolysis of both di- and triphosphate nucleotides (NDPs and NTPs) and hydrolyze NTPs to nucleotide monophosphates (NMPs) in two distinct successive phosphate-releasing steps, with NDPs as intermediates and participates in the regulation of extracellular levels of nucleotides (Probable) (PubMed:8529670, PubMed:8626624, PubMed:8955160, PubMed:8996251). By hydrolyzing proinflammatory ATP and platelet-activating ADP to AMP, it blocks platelet aggregation and supports blood flow (PubMed:8955160, PubMed:8996251).
Involvement in disease
Spastic paraplegia 64, autosomal recessive
SPG64
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated.
The N-terminus is blocked.
Palmitoylated on Cys-13; which is required for caveola targeting.
Sequence Similarities
Belongs to the GDA1/CD39 NTPase family.
Tissue Specificity
Expressed primarily on activated lymphoid cells (PubMed:7930580). Also expressed in endothelial tissues (PubMed:8955160). Highly expressed in placenta, lung, skeletal muscle, kidney (PubMed:8955160).
Cellular localization
- Membrane
- Multi-pass membrane protein
- Membrane
- Caveola
Alternative names
CD39, ENTPD1, Ectonucleoside triphosphate diphosphohydrolase 1, ATP diphosphohydrolase, Ecto-ATP diphosphohydrolase 1, Ecto-apyrase, Lymphoid cell activation antigen, Nucleoside triphosphate diphosphohydrolase 1, ATP-DPH, ATPDase, Ecto-ATPDase 1, Ecto-ATPase 1, NTPDase1