• Gene id: 57089

Gene Summary

• Gene Symbol: ENTPD7   Gene   UCSC   Ensembl
• Aliases: LALP1
• Gene name: ectonucleoside triphosphate diphosphohydrolase 7
• Alternate names: ectonucleoside triphosphate diphosphohydrolase 7, NTPDase 7, lysosomal apyrase-like protein 1,
• Gene location: 10q24.2 (99659508: 99711244)     Exons: 2     NC_000010.11
• Gene summary(Entrez): This gene encodes a purine-converting ectoenzyme which belongs to the ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded protein hydrolyzes extracellular nucleoside triphosphates (UTP, GTP, and CTP) to nucleoside monophosphate
• OMIM: 616753

Protein Summary

• Protein general information: Q9NQZ7  
  • Name: Ectonucleoside triphosphate diphosphohydrolase 7 (NTPDase 7) (EC 3.6.1. ) (Lysosomal apyrase like protein 1)
  • Length: 604  
  • Mass: 68960
• Sequence:

  MARISFSYLCPASWYFTVPTVSPFLRQRVAFLGLFFISCLLLLMLIIDFRHWSASLPRDRQYERYLARVGELEAT
  DTEDPNLNYGLVVDCGSSGSRIFVYFWPRHNGNPHDLLDIKQMRDRNSQPVVKKIKPGISAMADTPEHASDYLRP
  LLSFAAAHVPVKKHKETPLYILCTAGMRLLPERKQLAILADLVKDLPLEFDFLFSQSQAEVISGKQEGVYAWIGI
  NFVLGRFDHEDESDAEATQELAAGRRRTVGILDMGGASLQIAYEVPTSTSVLPAKQEEAAKILLAEFNLGCDVQH
  TEHVYRVYVTTFLGFGGNFARQRYEDLVLNETLNKNRLLGQKTGLSPDNPFLDPCLPVGLTDVVERNSQVLHVRG
  RGDWVSCGAMLSPLLARSNTSQASLNGIYQSPIDFNNSEFYGFSEFFYCTEDVLRIGGRYHGPTFAKAAQDYCGM
  AWSVLTQRFKNGLFSSHADEHRLKYQCFKSAWMYQVLHEGFHFPYDYPNLRTAQLVYDREVQWTLGAILYKTRFL
  PLRDLRQEGVRQAHGSWFRLSFVYNHYLFFACILVVLLAIFLYLLRLRRIHHRQTRASAPLDLLWLEEVVPMMGV
  QVGP

• Structural information:
  • Interpro: IPR000407  
  • Prosite: PS01238
  • STRING: ENSP00000359520
• Other Databases: GeneCards:  ENTPD7  Malacards:  ENTPD7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0034656	nucleobase-containing small molecule catabolic process	TAS	biological process
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq