This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been obse... See more...

Aliases for ENTPD4 Gene

Aliases for ENTPD4 Gene

  • Ectonucleoside Triphosphate Diphosphohydrolase 4 2 3 4 5
  • LALP70 2 3 4
  • UDPase 2 3 4
  • Lysosomal Apyrase-Like Protein Of 70 KDa 3 4
  • Lysosomal Apyrase-Like 1 2 3
  • Uridine-Diphosphatase 3 4
  • EC 3.6.1.6 4 51
  • NTPDase-4 2 3
  • KIAA0392 2 4
  • LYSAL1 3 4
  • LAP70 2 3
  • Guanosine-Diphosphatase Like Protein 3
  • Golgi Luminal UDPase 3
  • NTPDase 4 4
  • ENTPD4 5

External Ids for ENTPD4 Gene

Previous HGNC Symbols for ENTPD4 Gene

  • LYSAL1

Previous GeneCards Identifiers for ENTPD4 Gene

  • GC00U990801
  • GC08M023299
  • GC08M021834
  • GC08M023243

Summaries for ENTPD4 Gene

Entrez Gene Summary for ENTPD4 Gene

  • This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and these isoforms may differ in divalent cation dependence and substrate specificity. [provided by RefSeq, Sep 2011]

GeneCards Summary for ENTPD4 Gene

ENTPD4 (Ectonucleoside Triphosphate Diphosphohydrolase 4) is a Protein Coding gene. Among its related pathways are Lysosome and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include hydrolase activity and uridine-diphosphatase activity. An important paralog of this gene is ENTPD7.

UniProtKB/Swiss-Prot Summary for ENTPD4 Gene

  • Hydrolyzes preferentially nucleoside 5'-diphosphates, nucleoside 5'-triphosphates are hydrolyzed only to a minor extent. The order of activity with different substrates is UDP >> GDP = CDP = TDP, AMP, ADP, ATP and UMP are not substrates. Preferred substrates for isoform 2 are CTP, UDP, CDP, GTP and GDP, while isoform 1 utilizes UTP and TTP.

Additional gene information for ENTPD4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENTPD4 Gene

Genomics for ENTPD4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ENTPD4 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 ENTPD4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENTPD4

Top Transcription factor binding sites by QIAGEN in the ENTPD4 gene promoter:
  • CP2
  • CREB
  • deltaCREB
  • E4BP4
  • SRY

Genomic Locations for ENTPD4 Gene

Genomic Locations for ENTPD4 Gene
chr8:23,385,783-23,457,731
(GRCh38/hg38)
Size:
71,949 bases
Orientation:
Minus strand
chr8:23,243,296-23,315,244
(GRCh37/hg19)
Size:
71,949 bases
Orientation:
Minus strand

Genomic View for ENTPD4 Gene

Genes around ENTPD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENTPD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENTPD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENTPD4 Gene

Proteins for ENTPD4 Gene

  • Protein details for ENTPD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y227-ENTP4_HUMAN
    Recommended name:
    Ectonucleoside triphosphate diphosphohydrolase 4
    Protein Accession:
    Q9Y227
    Secondary Accessions:
    • D3DSS3
    • O15092

    Protein attributes for ENTPD4 Gene

    Size:
    616 amino acids
    Molecular mass:
    70255 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ENTPD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENTPD4 Gene

Selected DME Specific Peptides for ENTPD4 Gene

Q9Y227:
  • QCFKSAW
  • NSEFYGFSEF
  • SFVYNHYLF
  • LAEFNLGCD
  • VVDCGSSGSR
  • TEHVYRVYV

Post-translational modifications for ENTPD4 Gene

  • Glycosylation at Asn404 and Asn407
  • Modification sites at PhosphoSitePlus

Other Protein References for ENTPD4 Gene

Domains & Families for ENTPD4 Gene

Gene Families for ENTPD4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ENTPD4 Gene

InterPro:
Blocks:
  • GDA1/CD39 family of nucleoside phosphatase
ProtoNet:

Suggested Antigen Peptide Sequences for ENTPD4 Gene

GenScript: Design optimal peptide antigens:
  • Uridine-diphosphatase (ENTP4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y227

UniProtKB/Swiss-Prot:

ENTP4_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 ENTPD4: view

Function for ENTPD4 Gene

Molecular function for ENTPD4 Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes preferentially nucleoside 5'-diphosphates, nucleoside 5'-triphosphates are hydrolyzed only to a minor extent. The order of activity with different substrates is UDP >> GDP = CDP = TDP, AMP, ADP, ATP and UMP are not substrates. Preferred substrates for isoform 2 are CTP, UDP, CDP, GTP and GDP, while isoform 1 utilizes UTP and TTP.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ribonucleoside 5'-diphosphate + H2O = a ribonucleoside 5'-phosphate + H(+) + phosphate; Xref=Rhea:RHEA:36799, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:43474, ChEBI:CHEBI:57930, ChEBI:CHEBI:58043; EC=3.6.1.6; Evidence={ECO:0000269|PubMed:9556635};.

Enzyme Numbers (IUBMB) for ENTPD4 Gene

Phenotypes From GWAS Catalog for ENTPD4 Gene

Gene Ontology (GO) - Molecular Function for ENTPD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0017110 nucleoside-diphosphatase activity IEA --
GO:0045134 uridine-diphosphatase activity IEA,IDA 9556635
genes like me logo Genes that share ontologies with ENTPD4: view
genes like me logo Genes that share phenotypes with ENTPD4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ENTPD4

CRISPR Products

miRNA for ENTPD4 Gene

miRTarBase miRNAs that target ENTPD4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENTPD4

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ENTPD4 Gene

Localization for ENTPD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENTPD4 Gene

Golgi apparatus membrane. Multi-pass membrane protein. Cytoplasmic vesicle, autophagosome membrane. Multi-pass membrane protein. Note=Localizes in the Golgi and autophagic vacuoles/lysosomes.

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 ENTPD4 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 3
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ENTPD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0000421 autophagosome membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ENTPD4: view

Pathways & Interactions for ENTPD4 Gene

genes like me logo Genes that share pathways with ENTPD4: view

Pathways by source for ENTPD4 Gene

Gene Ontology (GO) - Biological Process for ENTPD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006256 UDP catabolic process IDA 9556635
GO:0034656 nucleobase-containing small molecule catabolic process TAS --
genes like me logo Genes that share ontologies with ENTPD4: view

No data available for SIGNOR curated interactions for ENTPD4 Gene

Drugs & Compounds for ENTPD4 Gene

(12) Drugs for ENTPD4 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
CDP Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0

(4) Additional Compounds for ENTPD4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 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
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with ENTPD4: view

Transcripts for ENTPD4 Gene

mRNA/cDNA for ENTPD4 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENTPD4

Alternative Splicing Database (ASD) splice patterns (SP) for ENTPD4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: -
SP4: -
SP5: -
SP6:
SP7: -
SP8:
SP9:

ExUns: 17 ^ 18
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ENTPD4 Gene

GeneLoc Exon Structure for
ENTPD4

Expression for ENTPD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ENTPD4 Gene

Protein differential expression in normal tissues from HIPED for ENTPD4 Gene

This gene is overexpressed in Cervix (61.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ENTPD4 Gene



Protein tissue co-expression partners for ENTPD4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENTPD4

SOURCE GeneReport for Unigene cluster for ENTPD4 Gene:

Hs.444389

mRNA Expression by UniProt/SwissProt for ENTPD4 Gene:

Q9Y227-ENTP4_HUMAN
Tissue specificity: Ubiquitous. Highest expression in testis and lowest in bladder.

Evidence on tissue expression from TISSUES for ENTPD4 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with ENTPD4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENTPD4 Gene

Orthologs for ENTPD4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ENTPD4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ENTPD4 30 31
  • 99.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ENTPD4 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ENTPD4 30 31
  • 90.53 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ENTPD4 31
  • 90 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ENTPD4 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Entpd4 30 17 31
  • 86.13 (n)
OneToOne
Entpd4b 17
Rat
(Rattus norvegicus)
Mammalia Entpd4 30
  • 85.28 (n)
Chicken
(Gallus gallus)
Aves ENTPD4 30 31
  • 78.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ENTPD4 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia entpd4 30
  • 70.92 (n)
Str.13999 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33899 30
Zebrafish
(Danio rerio)
Actinopterygii entpd4 30 31
  • 68.53 (n)
OneToOne
wufd44h12 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7450 30
Worm
(Caenorhabditis elegans)
Secernentea ntp-1 31
  • 33 (a)
ManyToMany
mig-23 31
  • 32 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR006W 30
  • 45.89 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YND1 31
  • 25 (a)
OneToMany
Species where no ortholog for ENTPD4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ENTPD4 Gene

ENSEMBL:
Gene Tree for ENTPD4 (if available)
TreeFam:
Gene Tree for ENTPD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ENTPD4: view image

Paralogs for ENTPD4 Gene

Paralogs for ENTPD4 Gene

(1) SIMAP similar genes for ENTPD4 Gene using alignment to 5 proteins:

  • ENTP4_HUMAN
  • E5RIB2_HUMAN
  • H0YAN2_HUMAN
  • H0YBY8_HUMAN
  • Q8NE73_HUMAN
genes like me logo Genes that share paralogs with ENTPD4: view

Variants for ENTPD4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENTPD4 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs2272641 - p.Lys354Glu
rs549468877 - p.Ile341Val

Additional dbSNP identifiers (rs#s) for ENTPD4 Gene

Structural Variations from Database of Genomic Variants (DGV) for ENTPD4 Gene

Variant ID Type Subtype PubMed ID
dgv7139n100 CNV loss 25217958
dgv7140n100 CNV gain 25217958
nsv1017570 CNV gain 25217958
nsv1026345 CNV gain 25217958
nsv1119172 CNV deletion 24896259
nsv470206 CNV gain 18288195
nsv508499 CNV deletion 20534489
nsv610779 CNV gain 21841781
nsv831268 CNV gain 17160897

Variation tolerance for ENTPD4 Gene

Residual Variation Intolerance Score: 83.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.79; 79.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENTPD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENTPD4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENTPD4 Gene

Disorders for ENTPD4 Gene

Additional Disease Information for ENTPD4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for ENTPD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ENTPD4 Gene

Publications for ENTPD4 Gene

  1. A human intracellular apyrase-like protein, LALP70, localizes to lysosomal/autophagic vacuoles. (PMID: 10393803) Biederbick A … Elsässer HP (Journal of cell science 1999) 2 3 4 23
  2. Golgi localization and functional expression of human uridine diphosphatase. (PMID: 9556635) Wang TF … Guidotti G (The Journal of biological chemistry 1998) 3 4 23
  3. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  4. An association study on polymorphisms in the PEA15, ENTPD4, and GAS2L1 genes and schizophrenia. (PMID: 20537721) Saito A … Akiyama K (Psychiatry research 2011) 3 41
  5. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 41

Products for ENTPD4 Gene

Sources for ENTPD4 Gene