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The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
ENTPD1 (Ectonucleoside Triphosphate Diphosphohydrolase 1) is a Protein Coding gene. Diseases associated with ENTPD1 include Spastic Paraplegia 64, Autosomal Recessive and Paraplegia. Among its related pathways are ATP/ITP metabolism and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include hydrolase activity and nucleoside-diphosphatase activity. An important paralog of this gene is ENTPD8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0005515 | protein binding | IPI | 16478441 |
GO:0005524 | ATP binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0102485 | dATP phosphohydrolase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | NAS,TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 7930580 |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0070062 | extracellular exosome | HDA | 20458337 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism of nucleotides | ||
2 | Metabolism |
.40
|
|
3 | Measles | ||
4 | ATP/ITP metabolism |
ATP/ITP metabolism
-
|
Symbol | External ID(s) | Details |
---|---|---|
RANBP9 | ||
ADCY2 | ||
AK2 | ||
AK7 | ||
ENSG00000285188 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | NAS | 7930580 |
GO:0007596 | blood coagulation | TAS | 8955160 |
GO:0034656 | nucleobase-containing small molecule catabolic process | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 | |||
dTDP |
|
491-97-4 |
|
|||
IDP |
|
86-04-4 |
|
|||
inosine triphosphate |
|
132-06-9 |
|
|||
Phosphate |
|
14066-19-4, 14265-44-2 |
|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ENTPD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ENTPD1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Entpd1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Entpd1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | ENTPD1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ENTPD1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ENTPD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ENTPD1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ENTPD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | entpd1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | entpd1 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | ntp-1 31 |
|
ManyToMany | |
mig-23 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YND1 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G14240 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0436100 30 |
|
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638354 | Uncertain Significance: Spastic paraplegia 64, autosomal recessive | 95,845,406(+) | C/A | MISSENSE_VARIANT | |
653193 | Uncertain Significance: Spastic paraplegia 64, autosomal recessive | 95,866,195(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
654238 | Uncertain Significance: Spastic paraplegia 64, autosomal recessive | 95,866,312(+) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
703843 | Benign: Spastic paraplegia 64, autosomal recessive | 95,847,509(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
704012 | Likely Benign: not provided | 95,866,188(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2665760 | CNV | deletion | 23128226 |
esv3303997 | CNV | mobile element insertion | 20981092 |
esv3359010 | CNV | insertion | 20981092 |
esv3546713 | CNV | deletion | 23714750 |
nsv1052213 | CNV | loss | 25217958 |
nsv1110852 | OTHER | inversion | 24896259 |
nsv1153735 | CNV | deletion | 26484159 |
nsv507572 | OTHER | sequence alteration | 20534489 |
nsv526180 | CNV | gain | 19592680 |
nsv7499 | CNV | insertion | 18451855 |
nsv7500 | CNV | insertion | 18451855 |
nsv825528 | CNV | loss | 20364138 |
nsv950997 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 64, autosomal recessive |
|
|
paraplegia |
|
|
radiation proctitis |
|
|
thrombosis |
|
|
proctitis |
|
|