Human Gene ENTPD1 (ENST00000453258.6) from GENCODE V44
  Description: Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 2, mRNA. (from RefSeq NM_001098175)
RefSeq Summary (NM_001098175): 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].
Gencode Transcript: ENST00000453258.6
Gencode Gene: ENSG00000138185.20
Transcript (Including UTRs)
   Position: hg38 chr10:95,711,779-95,869,695 Size: 157,917 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr10:95,711,957-95,866,383 Size: 154,427 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:95,711,779-95,869,695)mRNA (may differ from genome)Protein (517 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ENTP1_HUMAN
DESCRIPTION: RecName: Full=Ectonucleoside triphosphate diphosphohydrolase 1; Short=NTPDase 1; EC=3.6.1.5; AltName: Full=Ecto-ATP diphosphohydrolase 1; Short=Ecto-ATPDase 1; Short=Ecto-ATPase 1; AltName: Full=Ecto-apyrase; AltName: Full=Lymphoid cell activation antigen; AltName: CD_antigen=CD39;
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.
CATALYTIC ACTIVITY: ATP + 2 H(2)O = AMP + 2 phosphate.
COFACTOR: Calcium.
COFACTOR: Magnesium.
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 7.0-7.5 with ATP as substrate, and 7.5-8.0 with ADP as substrate;
SUBUNIT: Homodimer; disulfide-linked (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
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.
PTM: The N-terminus is blocked.
PTM: Palmitoylated in the N-terminal part.
SIMILARITY: Belongs to the GDA1/CD39 NTPase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ENTPD1
Diseases sorted by gene-association score: spastic paraplegia 64, autosomal recessive* (1579), spastic paraplegia 64* (129), proctitis (7), radiation proctitis (6), stroke, ischemic (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.71 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 269.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -42.30178-0.238 Picture PostScript Text
3' UTR -907.403312-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000407 - GDA1_CD39_NTPase

Pfam Domains:
PF01150 - GDA1/CD39 (nucleoside phosphatase) family

ModBase Predicted Comparative 3D Structure on P49961
FrontTopSide
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0017110 nucleoside-diphosphatase activity
GO:0017111 nucleoside-triphosphatase activity
GO:0102490 8-oxo-dGTP phosphohydrolase activity

Biological Process:
GO:0007155 cell adhesion
GO:0007596 blood coagulation
GO:0034656 nucleobase-containing small molecule catabolic process

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AJ133134 - Homo sapiens mRNA for ecto-ATP diphosphohydrolase II, isolate C1600.
AJ133133 - Homo sapiens mRNA for ecto-ATP diphosphohydrolase, isolate C1800.
AK301459 - Homo sapiens cDNA FLJ54465 complete cds, highly similar to Ectonucleoside triphosphate diphosphohydrolase1 (EC 3.6.1.5).
AK298648 - Homo sapiens cDNA FLJ56124 complete cds, highly similar to Ectonucleoside triphosphate diphosphohydrolase 1 (EC 3.6.1.5).
AK316009 - Homo sapiens cDNA, FLJ78908 complete cds, highly similar to Ectonucleoside triphosphate diphosphohydrolase 1 (EC 3.6.1.5).
AK304018 - Homo sapiens cDNA FLJ54435 complete cds, highly similar to Ectonucleoside triphosphate diphosphohydrolase 1 (EC 3.6.1.5).
AK304836 - Homo sapiens cDNA FLJ55783 complete cds, highly similar to Ectonucleoside triphosphate diphosphohydrolase 1 (EC 3.6.1.5).
S73813 - CD39=lymphoid cell activation antigen [human, B lymhpoblastoid cell line, MP-1, mRNA, 1818 nt].
BC047664 - Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1, mRNA (cDNA clone MGC:51745 IMAGE:5762493), complete cds.
U87967 - Human ATP diphosphohydrolase mRNA, complete cds.
JD350209 - Sequence 331233 from Patent EP1572962.
JD149858 - Sequence 130882 from Patent EP1572962.
JD232841 - Sequence 213865 from Patent EP1572962.
BX537522 - Homo sapiens mRNA; cDNA DKFZp686D194 (from clone DKFZp686D194).
JD057606 - Sequence 38630 from Patent EP1572962.
JD206162 - Sequence 187186 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa00240 - Pyrimidine metabolism

Reactome (by CSHL, EBI, and GO)

Protein P49961 (Reactome details) participates in the following event(s):

R-HSA-8850846 NTPDase1 hydrolyzes nucleoside triphosphates
R-HSA-8850854 NTPDase1 hydrolyzes nucleoside diphosphates
R-HSA-8850843 Phosphate bond hydrolysis by NTPDase proteins
R-HSA-8956319 Nucleobase catabolism
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A9Z1X8, B4E1X1, B7Z599, CD39, ENST00000453258.1, ENST00000453258.2, ENST00000453258.3, ENST00000453258.4, ENST00000453258.5, ENTP1_HUMAN, NM_001098175, P49961, Q5T561, Q5T562, Q86VV3, Q9UQQ9, Q9Y3Q9, uc001kli.1, uc001kli.2, uc001kli.3, uc001kli.4, uc001kli.5
UCSC ID: ENST00000453258.6
RefSeq Accession: NM_001098175
Protein: P49961 (aka ENTP1_HUMAN)
CCDS: CCDS7444.1, CCDS53556.1, CCDS41554.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ENTPD1:
entpd1-ndd (ENTPD1-Related Neurodevelopmental Disorder)
hsp (Hereditary Spastic Paraplegia Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.