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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] See more...
Aliases for ENTPD1 Gene
Aliases for ENTPD1 Gene
External Ids for ENTPD1 Gene
- HGNC: 3363
- Entrez Gene: 953
- Ensembl: ENSG00000138185
- OMIM: 601752
- UniProtKB: P49961
Previous HGNC Symbols for ENTPD1 Gene
- CD39
Previous GeneCards Identifiers for ENTPD1 Gene
- GC10P096476
- GC10P096816
- GC10P097714
- GC10P097180
- GC10P097136
- GC10P097505
- GC10P091143
- GC10P097471
Summaries for ENTPD1 Gene
-
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]
GeneCards Summary for ENTPD1 Gene
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.
UniProtKB/Swiss-Prot Summary for ENTPD1 Gene
-
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.
Additional gene information for ENTPD1 Gene
- HGNC(3363)
- Entrez Gene(953)
- Ensembl(ENSG00000138185)
- OMIM(601752)
- UniProtKB(P49961)
- Open Targets Platform(ENSG00000138185)
- Monarch Initiative
- Search for ENTPD1 at DataMed
- Search for ENTPD1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENTPD1 Gene
Genomics for ENTPD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ENTPD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ENTPD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENTPD1
- Top Transcription factor binding sites by QIAGEN in the ENTPD1 gene promoter:
-
- AML1a
- E47
- IRF-2
- NF-AT
- NF-AT1
- NF-AT2
- NF-AT3
- NF-AT4
- RelA
- Tal-1
Genomic Locations for ENTPD1 Gene
Genomic Locations for ENTPD1 Gene
- chr10:95,710,901-95,877,266
- (GRCh38/hg38)
- Size:
- 166,366 bases
- Orientation:
- Plus strand
- chr10:97,471,536-97,637,023
- (GRCh37/hg19)
- Size:
- 165,488 bases
- Orientation:
- Plus strand
Genomic View for ENTPD1 Gene
Genes around ENTPD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q24.1 by HGNC
- 10q24.1 by Entrez Gene
- 10q24.1 by Ensembl
ENTPD1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ENTPD1 Gene
Proteins for ENTPD1 Gene
-
Protein details for ENTPD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P49961-ENTP1_HUMAN
- Recommended name:
- Ectonucleoside triphosphate diphosphohydrolase 1
- Protein Accession:
- P49961
- A9Z1X8
- B4DWB9
- B4E1X1
- B7Z599
- G3XAF6
- Q5T561
- Q5T562
- Q86VV3
- Q9UQQ9
- Q9Y3Q9
Protein attributes for ENTPD1 Gene
- Size:
- 510 amino acids
- Molecular mass:
- 57965 Da
- Cofactor:
- Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- Homodimer; disulfide-linked.
Protein Expression for ENTPD1 Gene
Selected DME Specific Peptides for ENTPD1 Gene
- P49961:
-
- GQEEGAYGWIT
- DLGGASTQ
- GWTLGYMLNLT
- KYGIVLD
- VKEKYLSEYCFSG
- VYTHSFLCYG
- FCSKNIL
- TAGMRLL
Post-translational modifications for ENTPD1 Gene
Other Protein References for ENTPD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_011538672.2
- XP_011538673.1
- XP_011538674.2
- XP_011538675.2
- XP_011538676.2
- XP_011538678.2
- XP_011538679.1
- XP_016872447.1
- XP_016872448.1
- XP_016872449.1
- XP_016872450.1
- XP_016872451.1
- XP_016872452.1
- XP_016872453.1
- NP_001091645.1
- NP_001157650.1
- NP_001157651.1
- NP_001157653.1
- NP_001157654.1
- NP_001157655.1
- NP_001299583.1
- NP_001307845.1
- NP_001767.3
Antibody Products
- G Biosciences Immunotag™ ENTPD1 Antibody
-
BioLegend
- CD39 Antibody (328206)
- CD39 Antibody (328205)
- CD39 Antibody (328207)
- CD39 Antibody (328202)
- CD39 Antibody (328204)
- CD39 Antibody (328208)
- CD39 Antibody (328209)
- CD39 Antibody (328210)
- CD39 Antibody (328212)
- CD39 Antibody (328211)
- CD39 Antibody (328213)
- PerCP/Cyanine5.5 CD39 Antibody (328218)
- PerCP/Cyanine5.5 CD39 Antibody (328217)
- CD39 Antibody (328219)
- CD39 (MaxPar(R) Ready) Antibody
- CD39 Antibody (328224)
- CD39 Antibody (328223)
- CD39 Antibody (328214)
- APC/Cyanine7 CD39 Antibody (328225)
- APC/Cyanine7 CD39 Antibody (328226)
- CD39 Antibody (328227)
- CD39 Antibody (328228)
- APC/Fire(TM) 750 CD39 Antibody (328229)
- APC/Fire(TM) 750 CD39 Antibody (328230)
- CD39 Antibody (328232)
- TotalSeq(TM)-A0176 CD39 Antibody
- CD39 Antibody (328236)
- CD39 Antibody (328235)
-
Custom Antibody ServicesOriGene Antibodies for ENTPD1
- Novus Biologicals Antibodies for ENTPD1
-
Abcam antibodies for ENTPD1
- Invitrogen Antibodies for ENTPD1 (AFLGC-ENTPD1)
-
Biorbyt antibodies for ENTPD1
-
Santa Cruz Biotechnology (SCBT) Antibodies for ENTPD1
- Sino Biological Antibodies for ENTPD1
Protein Products
-
OriGene Purified Proteins for ENTPD1
- Search Origene for MassSpec and Protein Over-expression Lysates for ENTPD1
- Origene Custom Protein Services for ENTPD1
- Sino Biological Cell Lysates for ENTPD1
- Sino Biological Recombinant Proteins for ENTPD1
-
Signalway Proteins for ENTPD1
-
Abcam proteins for ENTPD1
Assay Products
-
Custom Assay ServicesOriGene ELISA Kits for ENTPD1
- antibodies-online: Show 19 available ENTPD1 Elisa Kits ranked by validation data
- Compare Top ENTPD1 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for ENTPD1
-
Signalway ELISA kits for ENTPD1
Domains & Families for ENTPD1 Gene
Gene Families for ENTPD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- CD markers
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted membrane proteins
Protein Domains for ENTPD1 Gene
- InterPro:
- Blocks:
-
- GDA1/CD39 family of nucleoside phosphatase
- ProtoNet:
Suggested Antigen Peptide Sequences for ENTPD1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA, FLJ78908, highly similar to Ectonucleoside triphosphate diphosphohydrolase 1 (EC 3.6.1.5) (B7Z599_HUMAN)
- Lymphoid cell activation antigen (ENTP1_HUMAN)
- cDNA FLJ55783, highly similar to Ectonucleoside triphosphate diphosphohydrolase 1 (EC 3.6.1.5) (Q86VV3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P49961- Family:
-
- Belongs to the GDA1/CD39 NTPase family.
Function for ENTPD1 Gene
Molecular function for ENTPD1 Gene
- UniProtKB/Swiss-Prot 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a ribonucleoside 5'-triphosphate + 2 H2O = a ribonucleoside 5'-phosphate + 2 H(+) + 2 phosphate; Xref=Rhea:RHEA:36795, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:43474, ChEBI:CHEBI:58043, ChEBI:CHEBI:61557; EC=3.6.1.5;.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- pH dependence: Optimum pH is 7.0-7.5 with ATP as substrate, and 7.5-8.0 with ADP as substrate.;
Enzyme Numbers (IUBMB) for ENTPD1 Gene
Phenotypes From GWAS Catalog for ENTPD1 Gene
| 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 | -- |
Phenotypes for ENTPD1 Gene
- MGI mutant phenotypes for ENTPD1:
-
inferred from 4 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- vision/eye phenotype
- skeleton phenotype
- hematopoietic system phenotype
- GenomeRNAi human phenotypes for ENTPD1:
-
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- shRNA abundance <= 50%
- Increased G1 DNA content
- Increased shRNA abundance
- Decreased cell number
- Decreased viability in pancreas lineage
- Decreased POU5F1-GFP protein expression
- Decreased viability with paclitaxel
- Decreased replication of vaccinia virus (VACV)
- Decreased viability after TNF/CHX stimulation
- Decreased viability with carboplatin
Animal Models for ENTPD1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ENTPD1 - Select products 50% OFF >
- * ENTPD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ENTPD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ENTPD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ENTPD1
miRNA for ENTPD1 Gene
- miRTarBase miRNAs that target ENTPD1
-
- hsa-miR-346 (MIRT004222)
- hsa-miR-331-3p (MIRT043272)
- hsa-miR-15a-5p (MIRT127725)
- hsa-miR-16-5p (MIRT127726)
- hsa-miR-15b-5p (MIRT127732)
- hsa-miR-195-5p (MIRT127735)
- hsa-miR-361-5p (MIRT127737)
- hsa-miR-424-5p (MIRT127740)
- hsa-miR-497-5p (MIRT127741)
- hsa-miR-654-3p (MIRT127749)
- hsa-miR-6079 (MIRT127777)
- hsa-miR-6828-5p (MIRT127790)
- hsa-miR-6838-5p (MIRT127791)
- hsa-miR-142-3p (MIRT127801)
- hsa-miR-155-5p (MIRT440722)
- hsa-miR-374a-3p (MIRT550748)
- hsa-miR-4291 (MIRT550749)
- hsa-miR-511-5p (MIRT550750)
- hsa-miR-633 (MIRT550751)
- hsa-miR-6503-3p (MIRT550752)
- hsa-miR-6830-3p (MIRT550753)
- hsa-miR-107 (MIRT550754)
- hsa-miR-103a-3p (MIRT550755)
- hsa-miR-3619-5p (MIRT550756)
- hsa-miR-761 (MIRT550757)
- hsa-miR-214-3p (MIRT550758)
- hsa-miR-922 (MIRT550759)
- hsa-miR-3617-3p (MIRT550760)
- hsa-miR-624-5p (MIRT550761)
- hsa-miR-4694-3p (MIRT550762)
- hsa-miR-6833-5p (MIRT560412)
- hsa-miR-3190-3p (MIRT560413)
- hsa-miR-671-5p (MIRT560414)
- hsa-miR-891b (MIRT560415)
- hsa-miR-4657 (MIRT560416)
- hsa-miR-4491 (MIRT560418)
- mmu-miR-511-3p (MIRT578909)
- mmu-miR-1198-5p (MIRT578910)
- mmu-miR-466e-5p (MIRT578911)
- mmu-miR-466a-5p (MIRT578912)
- mmu-miR-1187 (MIRT578913)
- mmu-miR-466p-5p (MIRT578914)
- mmu-miR-466i-5p (MIRT578915)
- mmu-miR-466d-5p (MIRT578916)
- mmu-miR-466k (MIRT578917)
- mmu-miR-466l-5p (MIRT578918)
- hsa-miR-7703 (MIRT640867)
- hsa-miR-6720-5p (MIRT640868)
- hsa-miR-6512-3p (MIRT640869)
- hsa-miR-5682 (MIRT640870)
- hsa-miR-122-5p (MIRT640871)
- hsa-miR-504-3p (MIRT640872)
- hsa-miR-661 (MIRT640873)
- hsa-miR-6860 (MIRT640874)
- hsa-miR-612 (MIRT640875)
- hsa-miR-5189-5p (MIRT640876)
- hsa-miR-3187-5p (MIRT640877)
- hsa-miR-1285-3p (MIRT640878)
- hsa-miR-4793-3p (MIRT640879)
- hsa-miR-766-3p (MIRT640880)
- hsa-miR-939-3p (MIRT640881)
- hsa-miR-6849-3p (MIRT640882)
- hsa-miR-1273g-3p (MIRT640883)
- hsa-miR-6514-5p (MIRT640884)
- hsa-miR-6871-3p (MIRT640885)
- hsa-miR-29c-3p (MIRT640886)
- hsa-miR-29b-3p (MIRT640887)
- hsa-miR-29a-3p (MIRT640888)
- hsa-miR-508-5p (MIRT640889)
- hsa-miR-30e-5p (MIRT727772)
- hsa-miR-30d-5p (MIRT727773)
- hsa-miR-30c-5p (MIRT727774)
- hsa-miR-30b-5p (MIRT727775)
- hsa-miR-30a-5p (MIRT727776)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ENTPD1
- Browse OriGene Inhibitory RNA Products For ENTPD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENTPD1
Clone Products
- Applied Biological Materials (abm): Clones for ENTPD1 - Select products 50% OFF >
- * ENTPD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208197
- MR208197
- MR208197L3
- MR208197L4
- RC214505
- RC214505L3
- RC214505L4
- RC219359
- RC219359L1
- RC219359L2
- RC219359L3
- RC219359L4
- RC228321
- RC228321L3
- RC228321L4
- RC228390
- RC228390L3
- RC228390L4
- RC228426
- RC228426L3
- RC228426L4
- RC228856
- RC228856L3
- RC228856L4
- RC228857
- RC228857L3
- RC228857L4
- RG214505
- RG219359
- RG228321
- RG228390
- RG228426
- RG228856
- RG228857
- RR204121
- RR204121L3
- RR204121L4
- MR208197L3V
- MR208197L4V
- RC214505L3V
- RC214505L4V
- RC219359L1V
- RC219359L2V
- RC219359L3V
- RC219359L4V
- RC228321L3V
- RC228321L4V
- RC228390L3V
- RC228390L4V
- RC228426L3V
- RC228426L4V
- RC228856L3V
- RC228856L4V
- RC228857L3V
- RC228857L4V
- RR204121L3V
- RR204121L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ENTPD1
- Addgene plasmids for ENTPD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ENTPD1
Cell Line Products
-
Horizon Cell Lines for ENTPD1
No data available for Transcription Factor Targets and HOMER Transcription for ENTPD1 Gene
Localization for ENTPD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ENTPD1 Gene
- Membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 3 |
| golgi apparatus | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| endosome | 1 |
- Microtubules (1)
| 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 |
Pathways & Interactions for ENTPD1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of nucleotides | ||
| 2 | Metabolism |
.40
|
|
| 3 | Measles | ||
| 4 | ATP/ITP metabolism |
ATP/ITP metabolism
-
|
|
Pathways by source for ENTPD1 Gene
1 BioSystems pathway for ENTPD1 Gene
3 Reactome pathways for ENTPD1 Gene
4 KEGG pathways for ENTPD1 Gene
1 GeneGo (Thomson Reuters) pathway for ENTPD1 Gene
- ATP/ITP metabolism
Interacting Proteins for ENTPD1 Gene
Selected Interacting proteins:
P49961-ENTP1_HUMAN
ENSP00000360250
for ENTPD1 Gene via
UniProtKB
MINT
STRING
IID
| Symbol | External ID(s) | Details |
|---|---|---|
| RANBP9 | ||
| ADCY2 | ||
| AK2 | ||
| AK7 | ||
| ENSG00000285188 |
GPS-Prot Interaction Network for ENTPD1
| 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 | -- |
No data available for SIGNOR curated interactions for ENTPD1 Gene
Drugs & Compounds for ENTPD1 Gene
| 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 |
|
Transcripts for ENTPD1 Gene
mRNA/cDNA for ENTPD1 Gene
- 9 REFSEQ mRNAs :
- 20 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000371205 12493 nts (view in UCSC)
- ENST00000371206 1598 nts (view in UCSC)
- ENST00000371207 1903 nts (view in UCSC)
- ENST00000422161 439 nts (view in UCSC)
- ENST00000453258 5044 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ENTPD1 - Select products 50% OFF >
- * ENTPD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ENTPD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ENTPD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for ENTPD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ENTPD1
- Browse OriGene Inhibitory RNA Products For ENTPD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENTPD1
Clone Products
- Applied Biological Materials (abm): Clones for ENTPD1 - Select products 50% OFF >
- * ENTPD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208197
- MR208197
- MR208197L3
- MR208197L4
- RC214505
- RC214505L3
- RC214505L4
- RC219359
- RC219359L1
- RC219359L2
- RC219359L3
- RC219359L4
- RC228321
- RC228321L3
- RC228321L4
- RC228390
- RC228390L3
- RC228390L4
- RC228426
- RC228426L3
- RC228426L4
- RC228856
- RC228856L3
- RC228856L4
- RC228857
- RC228857L3
- RC228857L4
- RG214505
- RG219359
- RG228321
- RG228390
- RG228426
- RG228856
- RG228857
- RR204121
- RR204121L3
- RR204121L4
- MR208197L3V
- MR208197L4V
- RC214505L3V
- RC214505L4V
- RC219359L1V
- RC219359L2V
- RC219359L3V
- RC219359L4V
- RC228321L3V
- RC228321L4V
- RC228390L3V
- RC228390L4V
- RC228426L3V
- RC228426L4V
- RC228856L3V
- RC228856L4V
- RC228857L3V
- RC228857L4V
- RR204121L3V
- RR204121L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ENTPD1
- Addgene plasmids for ENTPD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ENTPD1
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||
| SP3: |
Relevant External Links for ENTPD1 Gene
- GeneLoc Exon Structure for
- ENTPD1
Expression for ENTPD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Bone (Muscoskeletal System)
- Inner Cell Mass (Early Embryonic Tissues)
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
- Blood (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for ENTPD1 Gene
This gene is overexpressed in Whole Blood (x4.8).
This gene is overexpressed in Uterus (16.8) and Urinary Bladder (6.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ENTPD1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENTPD1
SOURCE GeneReport for Unigene cluster for ENTPD1 Gene:
Hs.576612mRNA Expression by UniProt/SwissProt for ENTPD1 Gene:
P49961-ENTP1_HUMAN
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.
Evidence on tissue expression from TISSUES for ENTPD1 Gene
- Nervous system(4.9)
- Liver(4.5)
- Lung(4.5)
- Blood(3.6)
- Lymph node(3.3)
- Spleen(3.2)
- Intestine(3)
- Heart(3)
- Bone marrow(2.9)
- Kidney(2.7)
- Muscle(2.5)
- Skin(2.4)
- Pancreas(2.2)
- Thyroid gland(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ENTPD1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- head
- skull
Limb:
- lower limb
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for ENTPD1
-
OriGene qPCR primer pairs and template standards for ENTPD1
Gene Expression Assay Products
Orthologs for ENTPD1 Gene
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 |
|
- Species where no ortholog for ENTPD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for ENTPD1 Gene
- ENSEMBL:
- Gene Tree for ENTPD1 (if available)
- TreeFam:
- Gene Tree for ENTPD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ENTPD1: view image
Paralogs for ENTPD1 Gene
Variants for ENTPD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENTPD1 Gene
| 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 |
Residual Variation Intolerance Score:
30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.68;
32.09% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ENTPD1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENTPD1 Gene
Disorders for ENTPD1 Gene
(15) MalaCards diseases for ENTPD1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 64, autosomal recessive |
|
|
| paraplegia |
|
|
| radiation proctitis |
|
|
| thrombosis |
|
|
| proctitis |
|
|
Search ENTPD1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ENTP1_HUMAN- 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:0000269 PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ENTPD1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ENTPD1 Gene
Publications for ENTPD1 Gene
- Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 2 3 4
- Palmitoylation targets CD39/endothelial ATP diphosphohydrolase to caveolae. (PMID: 10636909) Koziak K … Robson SC (The Journal of biological chemistry 2000) 3 4 23
- The cDNA cloning of human placental ecto-ATP diphosphohydrolases I and II. (PMID: 10405171) Matsumoto M … Narita N (FEBS letters 1999) 3 4 23
- Placental ecto-ATP diphosphohydrolase: its structural feature distinct from CD39, localization and inhibition on shear-induced platelet aggregation. (PMID: 9846014) Makita K … Fujimura Y (International journal of hematology 1998) 3 4 23
- CD39 is an ecto-(Ca2+,Mg2+)-apyrase. (PMID: 8626624) Wang TF … Guidotti G (The Journal of biological chemistry 1996) 3 4 23
ExternalLinks
Products for ENTPD1 Gene
- View all 26 R&D Systems ENTPD1 (CD39/ENTPD1) Products
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- Custom Antibody ServicesOriGene Antibodies for ENTPD1
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- MG208197
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- RR204121
- RR204121L3
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- MR208197L3V
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- RC214505L3V
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- RC219359L1V
- RC219359L2V
- RC219359L3V
- RC219359L4V
- RC228321L3V
- RC228321L4V
- RC228390L3V
- RC228390L4V
- RC228426L3V
- RC228426L4V
- RC228856L3V
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- RC228857L3V
- RC228857L4V
- RR204121L3V
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- Biorbyt antibodies for ENTPD1
Sources for ENTPD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB