Entity Details

Primary name ENTPD1
Entity type gene
Source Source Link

Details

PrimaryID953
RefseqGeneNG_042803
SymbolENTPD1
Nameectonucleoside triphosphate diphosphohydrolase 1
Chromosome10
Location10q24.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-08-24
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsENTP1_HUMAN

GO terms

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GOName
GO:0004382 guanosine-diphosphatase activity
GO:0005524 ATP binding
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007155 cell adhesion
GO:0007596 blood coagulation
GO:0009134 nucleoside diphosphate catabolic process
GO:0016020 membrane
GO:0017110 nucleoside-diphosphatase activity
GO:0034656 nucleobase-containing small molecule catabolic process
GO:0035590 purinergic nucleotide receptor signaling pathway
GO:0045134 uridine-diphosphatase activity
GO:0070062 extracellular exosome
GO:0102485 dATP phosphohydrolase activity
GO:0102486 dCTP phosphohydrolase activity
GO:0102487 dUTP phosphohydrolase activity
GO:0102488 dTTP phosphohydrolase activity
GO:0102489 GTP phosphohydrolase activity
GO:0102490 8-oxo-dGTP phosphohydrolase activity
GO:0102491 dGTP phosphohydrolase activity

Diseases

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Disease IDSourceNameDescription
615683 OMIMSpastic 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
ENTPD1RANBP9BioGRID, HPRD, MINT16478441 details
ENTPD1HNRNPLBioGRID28611215 details