Human Gene ENTPD4 (uc003xdl.3)
  Description: Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.
RefSeq Summary (NM_004901): 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].
Transcript (Including UTRs)
   Position: hg19 chr8:23,286,665-23,315,244 Size: 28,580 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr8:23,290,439-23,307,413 Size: 16,975 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:23,286,665-23,315,244)mRNA (may differ from genome)Protein (616 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ENTP4_HUMAN
DESCRIPTION: RecName: Full=Ectonucleoside triphosphate diphosphohydrolase 4; Short=NTPDase 4; EC=3.6.1.6; AltName: Full=Lysosomal apyrase-like protein of 70 kDa; AltName: Full=Uridine-diphosphatase; Short=UDPase;
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.
CATALYTIC ACTIVITY: A nucleoside diphosphate + H(2)O = a nucleotide + phosphate.
COFACTOR: Calcium.
COFACTOR: Isoform 1 requires calcium and to a lesser extent, magnesium. Isoform 2 is equally dependent on calcium and magnesium.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Multi-pass membrane protein (Potential). Cytoplasmic vesicle, autophagosome membrane; Multi-pass membrane protein (Potential). Note=Localizes in the Golgi and autophagic vacuoles/lysosomes.
TISSUE SPECIFICITY: Ubiquitous. Highest expression in testis and lowest in bladder.
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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ENTPD4
CDC HuGE Published Literature: ENTPD4

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

+  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: 19.89 RPKM in Spleen
Total median expression: 531.98 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 -130.80272-0.481 Picture PostScript Text
3' UTR -1191.773774-0.316 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 Q9Y227
FrontTopSide
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 orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
    WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016787 hydrolase activity
GO:0017110 nucleoside-diphosphatase activity
GO:0017111 nucleoside-triphosphatase activity
GO:0045134 uridine-diphosphatase activity

Biological Process:
GO:0006256 UDP catabolic process
GO:0034656 nucleobase-containing small molecule catabolic process

Cellular Component:
GO:0000139 Golgi membrane
GO:0000421 autophagosome membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030173 integral component of Golgi membrane
GO:0031410 cytoplasmic vesicle
GO:0097637 integral component of autophagosome membrane


-  Descriptions from all associated GenBank mRNAs
  BC034477 - Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4, mRNA (cDNA clone MGC:26335 IMAGE:4824559), complete cds.
KJ901998 - Synthetic construct Homo sapiens clone ccsbBroadEn_11392 ENTPD4 gene, encodes complete protein.
DQ890824 - Synthetic construct clone IMAGE:100003454; FLH166244.01X; RZPDo839E0586D ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4) gene, encodes complete protein.
DQ893978 - Synthetic construct Homo sapiens clone IMAGE:100008438; FLH166240.01L; RZPDo839E0585D ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4) gene, encodes complete protein.
AB002390 - Homo sapiens mRNA for KIAA0392 gene, partial cds.
AJ131358 - Homo sapiens mRNA for lysosomal apyrase.
AF016032 - Homo sapiens guanosine-diphosphatase like protein mRNA, complete cds.
AK300464 - Homo sapiens cDNA FLJ58352 complete cds, highly similar to Ectonucleoside triphosphate diphosphohydrolase 4 (EC 3.6.1.6).
CU689900 - Synthetic construct Homo sapiens gateway clone IMAGE:100020387 5' read ENTPD4 mRNA.
JD142397 - Sequence 123421 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa00240 - Pyrimidine metabolism
hsa04142 - Lysosome

Reactome (by CSHL, EBI, and GO)

Protein Q9Y227 (Reactome details) participates in the following event(s):

R-HSA-8851225 NTPDase4 hydrolyzes nucleoside diphosphates
R-HSA-8851234 NTPDase4 hydrolyzes nucleoside triphosphates
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: D3DSS3, ENTP4_HUMAN, KIAA0392, LALP70, LYSAL1, NM_004901, NP_004892, O15092, Q9Y227
UCSC ID: uc003xdl.3
RefSeq Accession: NM_004901
Protein: Q9Y227 (aka ENTP4_HUMAN)
CCDS: CCDS6041.1, CCDS47827.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004901.4
exon count: 13CDS single in 3' UTR: no RNA size: 5897
ORF size: 1851CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3839.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.