InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ENTPD1

Summary

InnateDB Protein

IDBP-83619.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ENTPD1

Protein Name

ectonucleoside triphosphate diphosphohydrolase 1

Synonyms

ATPDase; CD39; NTPDase-1; SPG64;

Species

Homo sapiens

Ensembl Protein

ENSP00000360248

InnateDB Gene

IDBG-83613 (ENTPD1)

Protein Structure

UniProt Annotation

Function

In the nervous system, could hydrolyze ATP and other nucleotides to regulate purinergic neurotransmission. Could also be implicated in the prevention of platelet aggregation by hydrolyzing platelet-activating ADP to AMP. Hydrolyzes ATP and ADP equally well. {ECO:0000269PubMed:8955160}.

Subcellular Localization

Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.

Disease Associations

Spastic paraplegia 64, autosomal recessive (SPG64) [MIM:615683]: 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. {ECO:0000269PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed primarily on activated lymphoid cells. Also expressed in endothelial tissues. Isoform 1 and isoform 3 are present in both placenta and umbilical vein, whereas isoform 2 is present in placenta only.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.