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ENTPD1 Gene(Protein Coding)

Ectonucleoside Triphosphate Diphosphohydrolase 1

GCID:
GC10P095711
GIFtS:
53
Genes Participants
UDN Logo

Aliases for ENTPD1 Gene

Aliases for ENTPD1 Gene

  • Ectonucleoside Triphosphate Diphosphohydrolase 1 2 3 3 5
  • Lymphoid Cell Activation Antigen 3 4
  • Ecto-ATP Diphosphohydrolase 1 3 4
  • Ecto-ATPDase 1 3 4
  • Ecto-ATPase 1 3 4
  • Ecto-Apyrase 3 4
  • CD39 Antigen 3 4
  • CD39 3 4
  • EC 3.6.1.5 4
  • NTPDase-1 3
  • NTPDase 1 4
  • ATPDase 3
  • SPG64 3

External Ids for ENTPD1 Gene

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

Entrez Gene Summary 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 Proctitis. Among its related pathways are Pyrimidine metabolism (KEGG) and Metabolism. 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 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.

Gene Wiki entry for ENTPD1 Gene

Additional gene information for ENTPD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENTPD1 Gene

Genomics for ENTPD1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ENTPD1 Gene

Promoters and enhancers for ENTPD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10J095755 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 673.3 +48.2 48156 8 HDGF PKNOX1 ATF1 SMAD1 YBX1 IRF4 ZNF143 ZNF207 ATF7 RUNX3 ENTPD1 CC2D2B TCTN3 ALDH18A1 GC10M095714 ENTPD1-AS1
GH10J095696 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 650.4 -13.2 -13182 1.8 ZNF585B HLF IKZF1 ZFP36 ATF7 SPI1 ENTPD1 ZNF518A TCTN3 CC2D2B
GH10J095711 Promoter 0.5 EPDnew 650.7 +0.8 839 0.1 ENTPD1 GC10M095714
GH10J095781 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 36.1 +74.0 74013 6.6 PKNOX1 SMAD1 STAT5A BMI1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 ENTPD1 TCTN3 CCNJ ZNF518A CC2D2B BLNK GC10M095714 ENTPD1-AS1
GH10J095766 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 34.1 +57.9 57875 4.1 HDGF ELF3 PKNOX1 STAT5A BMI1 BATF KLF5 IRF4 ZNF366 ZNF207 ENTPD1 TCTN3 CCNJ ZNF518A CC2D2B ENTPD1-AS1 ALDH18A1 GC10M095714
- 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 UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENTPD1 gene promoter:
  • NF-AT4
  • NF-AT3
  • NF-AT2
  • NF-AT1
  • NF-AT
  • E47
  • Tal-1
  • RelA
  • IRF-2
  • AML1a

Genomic Locations for ENTPD1 Gene

Genomic Locations for ENTPD1 Gene
chr10:95,710,906-95,877,266
(GRCh38/hg38)
Size:
166,361 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:
ENTPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENTPD1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ENTPD1 Gene

Proteins for ENTPD1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ENTPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49961-ENTP1_HUMAN
    Recommended name:
    Ectonucleoside triphosphate diphosphohydrolase 1
    Protein Accession:
    P49961
    Secondary Accessions:
    • 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; Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer; disulfide-linked.

    Alternative splice isoforms for ENTPD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENTPD1 Gene

Protein Expression for ENTPD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ENTPD1 Gene

  • The N-terminus is blocked.
  • Palmitoylated in the N-terminal part.
  • Glycosylation at isoforms=2, 4, 5, 6457, isoforms=2, 4, 5, 6371, Asn334, Asn292, isoforms=2, 3, 4, 5, 6227, and Asn73
  • Modification sites at PhosphoSitePlus

Other Protein References for ENTPD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ENTPD1 Gene

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:
ProtoNet:

Suggested Antigen Peptide Sequences for ENTPD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49961

UniProtKB/Swiss-Prot:

ENTP1_HUMAN :
  • Belongs to the GDA1/CD39 NTPase family.
Family:
  • Belongs to the GDA1/CD39 NTPase family.
genes like me logo Genes that share domains with ENTPD1: view

Function for ENTPD1 Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

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:
A nucleoside 5-triphosphate + 2 H(2)O = a nucleoside 5-phosphate + 2 phosphate.
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

Gene Ontology (GO) - Molecular Function for ENTPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16478441
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0017110 nucleoside-diphosphatase activity EXP 8955160
GO:0017111 nucleoside-triphosphatase activity EXP 8955160
genes like me logo Genes that share ontologies with ENTPD1: view
genes like me logo Genes that share phenotypes with ENTPD1: view

Human Phenotype Ontology for ENTPD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ENTPD1 Gene

MGI Knock Outs for ENTPD1:

Animal Model Products

CRISPR Products

miRNA for ENTPD1 Gene

miRTarBase miRNAs that target ENTPD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENTPD1

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ENTPD1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
golgi apparatus 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ENTPD1 Gene

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 HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with ENTPD1: view

Pathways & Interactions for ENTPD1 Gene

genes like me logo Genes that share pathways with ENTPD1: view

Pathways by source for ENTPD1 Gene

1 BioSystems pathway for ENTPD1 Gene
1 GeneGo (Thomson Reuters) pathway for ENTPD1 Gene

Gene Ontology (GO) - Biological Process for ENTPD1 Gene

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 --
genes like me logo Genes that share ontologies with ENTPD1: view

No data available for SIGNOR curated interactions for ENTPD1 Gene

Drugs & Compounds for ENTPD1 Gene

Products:

  1. Drug

(22) Drugs for ENTPD1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Magnesium Approved Nutra 0

(12) Additional Compounds for ENTPD1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
dTDP
  • 2'-Deoxyribosylthymine 5'-(trihydrogen diphosphate)
  • Deoxy-TDP
  • Deoxythymidine 5'-diphosphate
  • Thymidine 5'-diphosphate
  • Thymidine 5'-pyrophosphate
 491-97-4
IDP
  • 5'-IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
  • Inosine 5'-pyrophosphate
 86-04-4
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • Inosine 5'-triphosphate
  • Inosine tripolyphosphate
  • O(5')-(Tetrahydroxytriphosphoryl)inosine
  • 2'-Inosine-5'-triphosphoric acid
 132-06-9
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
 14265-44-2
genes like me logo Genes that share compounds with ENTPD1: view

Transcripts for ENTPD1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ENTPD1 Gene

(23) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(182) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ENTPD1 Gene

Ectonucleoside triphosphate diphosphohydrolase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENTPD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ENTPD1 Gene

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
ECgene alternative splicing isoforms for
ENTPD1

Expression for ENTPD1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ENTPD1 Gene

mRNA expression in normal human tissues for ENTPD1 Gene
mRNA expression by BioGPS for ENTPD1 GenemRNA expression by GTEx for ENTPD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ENTPD1 Gene

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for ENTPD1 Gene

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



Protein tissue co-expression partners for ENTPD1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ENTPD1 Gene:

ENTPD1

SOURCE GeneReport for Unigene cluster for ENTPD1 Gene:

Hs.576612

mRNA 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(4.8)
  • Liver(4.4)
  • Lung(4.4)
  • Blood(3.3)
  • Lymph node(2.5)
  • Spleen(2.4)
  • Heart(2.3)
  • Bone marrow(2.1)
  • Intestine(2.1)
  • Kidney(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
genes like me logo Genes that share expression patterns with ENTPD1: view

Orthologs for ENTPD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENTPD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ENTPD1 34 33
  • 99.62 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ENTPD1 34 33
  • 84.33 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Entpd1 16 34 33
  • 80.42 (n)
rat
(Rattus norvegicus)
 Mammalia Entpd1 33
  • 79.63 (n)
cow
(Bos Taurus)
 Mammalia ENTPD1 34 33
  • 78.88 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ENTPD1 34
  • 66 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ENTPD1 34
  • 49 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ENTPD1 34
  • 61 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ENTPD1 34
  • 52 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia entpd1 33
  • 61.81 (n)
zebrafish
(Danio rerio)
 Actinopterygii entpd1 34 33
  • 59.47 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea ntp-1 34
  • 21 (a)
 ManyToMany
mig-23 34
  • 20 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YND1 34
  • 18 (a)
 OneToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G14240 33
  • 44.47 (n)
rice
(Oryza sativa)
 Liliopsida Os08g0436100 33
  • 43.61 (n)
Species where no ortholog for ENTPD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Paralogs for ENTPD1 Gene

(3) SIMAP similar genes for ENTPD1 Gene using alignment to 2 proteins:

  • ENTP1_HUMAN
  • L8E7N4_HUMAN
genes like me logo Genes that share paralogs with ENTPD1: view

Variants for ENTPD1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ENTPD1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs150772804 uncertain-significance, Global developmental delay, Microcephaly, Polymicrogyria, Spastic paraplegia 64, autosomal recessive 95,823,245(+) G/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs587777200 pathogenic, Spastic paraplegia 64, autosomal recessive 95,844,582(+) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs751335015 uncertain-significance, Spastic paraplegia 64, autosomal recessive 95,842,410(+) A/G/T coding_sequence_variant, intron_variant, missense_variant
VAR_071082 Spastic paraplegia 64, autosomal recessive (SPG64) [MIM:615683] p.Gly210Arg
rs1000017855 -- 95,854,104(+) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ENTPD1 Gene

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

Variation tolerance for ENTPD1 Gene

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

Human Gene Mutation Database (HGMD)
ENTPD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENTPD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENTPD1 Gene

Disorders for ENTPD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ENTPD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with ENTPD1: view

No data available for Genatlas for ENTPD1 Gene

Publications for ENTPD1 Gene

  1. 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 58
  2. Palmitoylation targets CD39/endothelial ATP diphosphohydrolase to caveolae. (PMID: 10636909) Koziak K … Robson SC (The Journal of biological chemistry 2000) 3 4 22 58
  3. The cDNA cloning of human placental ecto-ATP diphosphohydrolases I and II. (PMID: 10405171) Matsumoto M … Narita N (FEBS letters 1999) 3 4 22 58
  4. 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 22 58
  5. CD39 is an ecto-(Ca2+,Mg2+)-apyrase. (PMID: 8626624) Wang TF … Guidotti G (The Journal of biological chemistry 1996) 3 4 22 58

Products for ENTPD1 Gene

Sources for ENTPD1 Gene

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