• Gene id: 957

Gene Summary

• Gene Symbol: ENTPD5   Gene   UCSC   Ensembl
• Aliases: CD39L4, NTPDase-5, PCPH
• Gene name: ectonucleoside triphosphate diphosphohydrolase 5 (inactive)
• Alternate names: ectonucleoside triphosphate diphosphohydrolase 5, CD39 antigen-like 4, CD39-like 4, ER-UDPase, GDPase ENTPD5, NTPDase 5, Pcph proto-oncogene protein, UDPase ENTPD5, guanosine-diphosphatase ENTPD5, nucleoside diphosphatase, proto-oncogene CPH, uridine-diphosphatase E,
• Gene location: 14q24.3 (74019325: 73957915)     Exons: 22     NC_000014.9
• Gene summary(Entrez): The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [pr
• OMIM: 603162

SNPs

rs3817444

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55509814A>C
NC_000004.12   g.55509814A>G
NC_000004.11   g.56375981A>C
NC_000004.11   g.56375981A>G|SEQ=[A/C/G]|GENE=CLOCK

rs3749474

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55434518C>T
NC_000004.11   g.56300685C>T
NM_004898.4   c.*897G>A
NM_004898.3   c.*897G>A
XM_011534409.2   c.*897G>A
XM_005265787.2   c.*897G>A
XM_005265787.1   c.*897G>A
XM_011534410.2   c.*897G>A
XM_011534411.2   c.*897G>A
NM_001267843.1   c.*897G>A
XM  

rs1801260

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55435202A>G
NC_000004.11   g.56301369A>G
NM_004898.4   c.*213T>C
NM_004898.3   c.*213T>C
XM_011534409.2   c.*213T>C
XM_005265787.2   c.*213T>C
XM_005265787.1   c.*213T>C
XM_011534410.2   c.*213T>C
XM_011534411.2   c.*213T>C
NM_001267843.1   c.*213T>C
XM  

rs11932595

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55457430A>G
NC_000004.12   g.55457430A>T
NC_000004.11   g.56323597A>G
NC_000004.11   g.56323597A>T|SEQ=[A/G/T]|GENE=CLOCK

rs6811520

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55449011T>C
NC_000004.11   g.56315178T>C|SEQ=[T/C]|GENE=CLOCK
TMEM165   55858

rs6850524

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.55515830C>A
NC_000004.12   g.55515830C>G
NC_000004.12   g.55515830C>T
NC_000004.11   g.56381997C>A
NC_000004.11   g.56381997C>G
NC_000004.11   g.56381997C>T|SEQ=[C/A/G/T]|GENE=CLOCK

Protein Summary

• Protein general information: O75356  
  • Name: Ectonucleoside triphosphate diphosphohydrolase 5 (NTPDase 5) (EC 3.6.1.6) (CD39 antigen like 4) (ER UDPase) (Guanosine diphosphatase ENTPD5) (GDPase ENTPD5) (EC 3.6.1.42) (Nucleoside diphosphatase) (Uridine diphosphatase ENTPD5) (UDPase ENTPD5)
  • Length: 428  
  • Mass: 47517
  • Tissue specificity: Expressed in adult liver, kidney, prostate, testis and colon. Much weaker expression in other tissues. {ECO
• Sequence:

  MATSWGTVFFMLVVSCVCSAVSHRNQQTWFEGIFLSSMCPINVSASTLYGIMFDAGSTGTRIHVYTFVQKMPGQL
  PILEGEVFDSVKPGLSAFVDQPKQGAETVQGLLEVAKDSIPRSHWKKTPVVLKATAGLRLLPEHKAKALLFEVKE
  IFRKSPFLVPKGSVSIMDGSDEGILAWVTVNFLTGQLHGHRQETVGTLDLGGASTQITFLPQFEKTLEQTPRGYL
  TSFEMFNSTYKLYTHSYLGFGLKAARLATLGALETEGTDGHTFRSACLPRWLEAEWIFGGVKYQYGGNQEGEVGF
  EPCYAEVLRVVRGKLHQPEEVQRGSFYAFSYYYDRAVDTDMIDYEKGGILKVEDFERKAREVCDNLENFTSGSPF
  LCMDLSYITALLKDGFGFADSTVLQLTKKVNNIETGWALGATFHLLQSLGISH

• Structural information:
  • Interpro: IPR000407  
  • Prosite: PS01238
  • STRING: ENSP00000335246
• Other Databases: GeneCards:  ENTPD5  Malacards:  ENTPD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051084	'de novo' posttranslational protein folding	ISS	biological process
GO:0046034	ATP metabolic process	ISS	biological process
GO:0045821	positive regulation of glycolytic process	ISS	biological process
GO:0045134	uridine-diphosphatase activity	ISS	molecular function
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0004382	guanosine-diphosphatase activity	ISS	molecular function
GO:0006487	protein N-linked glycosylation	ISS	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0017110	nucleoside-diphosphatase activity	IEA	molecular function
GO:0045134	uridine-diphosphatase activity	IEA	molecular function
GO:0004382	guanosine-diphosphatase activity	IEA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0034656	nucleobase-containing small molecule catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

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

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)