• Gene id: 9583

Gene Summary

• Gene Symbol: ENTPD4   Gene   UCSC   Ensembl
• Aliases: LALP70, LAP70, LYSAL1, NTPDase-4, UDPase
• Gene name: ectonucleoside triphosphate diphosphohydrolase 4
• Alternate names: ectonucleoside triphosphate diphosphohydrolase 4, golgi luminal UDPase, guanosine-diphosphatase like protein, lysosomal apyrase-like 1, lysosomal apyrase-like protein of 70 kDa, uridine-diphosphatase,
• Gene location: 8p21.3 (23457730: 23429151)     Exons: 13     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 607577

Protein Summary

• Protein general information: Q9Y227  
  • Name: Ectonucleoside triphosphate diphosphohydrolase 4 (NTPDase 4) (EC 3.6.1.6) (Lysosomal apyrase like protein of 70 kDa) (Uridine diphosphatase) (UDPase)
  • Length: 616  
  • Mass: 70255
  • Tissue specificity: Ubiquitous. Highest expression in testis and lowest in bladder.
• Sequence:

  MGRIGISCLFPASWHFSISPVGCPRILNTNLRQIMVISVLAAAVSLLYFSVVIIRNKYGRLTRDKKFQRYLARVT
  DIEATDTNNPNVNYGIVVDCGSSGSRVFVYCWPRHNGNPHDLLDIRQMRDKNRKPVVMKIKPGISEFATSPEKVS
  DYISPLLNFAAEHVPRAKHKETPLYILCTAGMRILPESQQKAILEDLLTDIPVHFDFLFSDSHAEVISGKQEGVY
  AWIGINFVLGRFEHIEDDDEAVVEVNIPGSESSEAIVRKRTAGILDMGGVSTQIAYEVPKTVSFASSQQEEVAKN
  LLAEFNLGCDVHQTEHVYRVYVATFLGFGGNAARQRYEDRIFANTIQKNRLLGKQTGLTPDMPYLDPCLPLDIKD
  EIQQNGQTIYLRGTGDFDLCRETIQPFMNKTNETQTSLNGVYQPPIHFQNSEFYGFSEFYYCTEDVLRMGGDYNA
  AKFTKAAKDYCATKWSILRERFDRGLYASHADLHRLKYQCFKSAWMFEVFHRGFSFPVNYKSLKTALQVYDKEVQ
  WTLGAILYRTRFLPLRDIQQEAFRASHTHWRGVSFVYNHYLFSGCFLVVLLAILLYLLRLRRIHRRTPRSSSAAA
  LWMEEGLPAQNAPGTL

• Structural information:
  • Interpro: IPR000407  
  • Prosite: PS01238
  • STRING: ENSP00000351520
• Other Databases: GeneCards:  ENTPD4  Malacards:  ENTPD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097637	integral component of autophagosome membrane	IDA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045134	uridine-diphosphatase activity	IEA	molecular function
GO:0017110	nucleoside-diphosphatase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0034656	nucleobase-containing small molecule catabolic process	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0000421	autophagosome membrane	IEA	cellular component
GO:0045134	uridine-diphosphatase activity	IDA	molecular function
GO:0030173	integral component of Golgi membrane	IDA	cellular component
GO:0006256	UDP catabolic process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa04142	Lysosome
hsa00240	Pyrimidine metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray