Human Gene ENTPD1 (ENST00000371205.5_9) from GENCODE V47lift37
  Description: ectonucleoside triphosphate diphosphohydrolase 1, transcript variant 1 (from RefSeq NM_001776.6)
Gencode Transcript: ENST00000371205.5_9
Gencode Gene: ENSG00000138185.20_13
Transcript (Including UTRs)
   Position: hg19 chr10:97,515,920-97,637,023 Size: 121,104 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr10:97,515,997-97,626,140 Size: 110,144 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:97,515,920-97,637,023)mRNA (may differ from genome)Protein (510 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid 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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -11.4077-0.148 Picture PostScript Text
3' UTR -2916.9010883-0.268 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
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  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).
AK098278 - Homo sapiens cDNA FLJ40959 fis, clone UTERU2011741.
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.
JD514121 - Sequence 495145 from Patent EP1572962.
JD514122 - Sequence 495146 from Patent EP1572962.
JD070250 - Sequence 51274 from Patent EP1572962.
JD397895 - Sequence 378919 from Patent EP1572962.
JD447592 - Sequence 428616 from Patent EP1572962.
JD447593 - Sequence 428617 from Patent EP1572962.
JD359802 - Sequence 340826 from Patent EP1572962.
JD359801 - Sequence 340825 from Patent EP1572962.
JD552254 - Sequence 533278 from Patent EP1572962.
JD242488 - Sequence 223512 from Patent EP1572962.
JD415041 - Sequence 396065 from Patent EP1572962.
JD120620 - Sequence 101644 from Patent EP1572962.
JD379800 - Sequence 360824 from Patent EP1572962.
JD094194 - Sequence 75218 from Patent EP1572962.
JD094195 - Sequence 75219 from Patent EP1572962.
JD245958 - Sequence 226982 from Patent EP1572962.
JD312857 - Sequence 293881 from Patent EP1572962.
AL833543 - Homo sapiens mRNA; cDNA DKFZp686I093 (from clone DKFZp686I093).
JD113109 - Sequence 94133 from Patent EP1572962.
JD095679 - Sequence 76703 from Patent EP1572962.
JD396976 - Sequence 378000 from Patent EP1572962.
JD236893 - Sequence 217917 from Patent EP1572962.
JD377749 - Sequence 358773 from Patent EP1572962.
JD279436 - Sequence 260460 from Patent EP1572962.
JD167344 - Sequence 148368 from Patent EP1572962.
JD504716 - Sequence 485740 from Patent EP1572962.
JD513419 - Sequence 494443 from Patent EP1572962.
JD360960 - Sequence 341984 from Patent EP1572962.
JD063385 - Sequence 44409 from Patent EP1572962.
JD284496 - Sequence 265520 from Patent EP1572962.
JD329308 - Sequence 310332 from Patent EP1572962.
JD477927 - Sequence 458951 from Patent EP1572962.
JD508915 - Sequence 489939 from Patent EP1572962.
JD290865 - Sequence 271889 from Patent EP1572962.
JD563857 - Sequence 544881 from Patent EP1572962.
JD383370 - Sequence 364394 from Patent EP1572962.
JD073278 - Sequence 54302 from Patent EP1572962.
JD502955 - Sequence 483979 from Patent EP1572962.
JD083063 - Sequence 64087 from Patent EP1572962.
JD250806 - Sequence 231830 from Patent EP1572962.
JD113241 - Sequence 94265 from Patent EP1572962.
JD230380 - Sequence 211404 from Patent EP1572962.
JD132880 - Sequence 113904 from Patent EP1572962.
JD540180 - Sequence 521204 from Patent EP1572962.
JD080719 - Sequence 61743 from Patent EP1572962.
JD515949 - Sequence 496973 from Patent EP1572962.
JD457754 - Sequence 438778 from Patent EP1572962.
JD279864 - Sequence 260888 from Patent EP1572962.
JD052162 - Sequence 33186 from Patent EP1572962.
JD246617 - Sequence 227641 from Patent EP1572962.
JD282938 - Sequence 263962 from Patent EP1572962.
JD144387 - Sequence 125411 from Patent EP1572962.
JD111854 - Sequence 92878 from Patent EP1572962.
JD036773 - Sequence 17797 from Patent EP1572962.
JD506172 - Sequence 487196 from Patent EP1572962.
JD305975 - Sequence 286999 from Patent EP1572962.
AK098240 - Homo sapiens cDNA FLJ40921 fis, clone UTERU2006103.
JD447465 - Sequence 428489 from Patent EP1572962.
JD239657 - Sequence 220681 from Patent EP1572962.
JD174838 - Sequence 155862 from Patent EP1572962.
JD114191 - Sequence 95215 from Patent EP1572962.
JD097882 - Sequence 78906 from Patent EP1572962.
JD376876 - Sequence 357900 from Patent EP1572962.
JD107714 - Sequence 88738 from Patent EP1572962.
JD403718 - Sequence 384742 from Patent EP1572962.
JD104241 - Sequence 85265 from Patent EP1572962.
JD111819 - Sequence 92843 from Patent EP1572962.
JD543785 - Sequence 524809 from Patent EP1572962.
JD241979 - Sequence 223003 from Patent EP1572962.
JD199870 - Sequence 180894 from Patent EP1572962.
JD050491 - Sequence 31515 from Patent EP1572962.
JD096701 - Sequence 77725 from Patent EP1572962.
JD301731 - Sequence 282755 from Patent EP1572962.
JD314082 - Sequence 295106 from Patent EP1572962.
JD563967 - Sequence 544991 from Patent EP1572962.
JD051383 - Sequence 32407 from Patent EP1572962.
JD437548 - Sequence 418572 from Patent EP1572962.
JD094259 - Sequence 75283 from Patent EP1572962.
JD438246 - Sequence 419270 from Patent EP1572962.
JD049940 - Sequence 30964 from Patent EP1572962.
JD509323 - Sequence 490347 from Patent EP1572962.
JD438424 - Sequence 419448 from Patent EP1572962.
JD177756 - Sequence 158780 from Patent EP1572962.
JD061754 - Sequence 42778 from Patent EP1572962.
JD528499 - Sequence 509523 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7185 - UTP and CTP dephosphorylation I

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, B4DWB9, B4E1X1, B7Z599, CD39 , ENST00000371205.1, ENST00000371205.2, ENST00000371205.3, ENST00000371205.4, ENTP1_HUMAN, ENTPD1 , G3XAF6, NM_001776, P49961, Q5T561, Q5T562, Q86VV3, Q9UQQ9, Q9Y3Q9, uc318izd.1, uc318izd.2
UCSC ID: ENST00000371205.5_9
RefSeq Accession: NM_001776.6
Protein: P49961 (aka ENTP1_HUMAN)

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

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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