• Gene id: 221294

Gene Summary

• Gene Symbol: NT5DC1   Gene   UCSC   Ensembl
• Aliases: C6orf200, LP2642, NT5C2L1
• Gene name: 5'-nucleotidase domain containing 1
• Alternate names: 5'-nucleotidase domain-containing protein 1, 5'-nucleotidase, cytosolic II-like 1 protein,
• Gene location: 6q22.1 (123961411: 123887382)     Exons: 16     NC_000003.12
• Gene summary(Entrez): While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]

Protein Summary

• Protein general information: Q5TFE4  
  • Name: 5' nucleotidase domain containing protein 1 (EC 3.1.3. )
  • Length: 455  
  • Mass: 51845
• Sequence:

  MAQHFSLAACDVVGFDLDHTLCRYNLPESAPLIYNSFAQFLVKEKGYDKELLNVTPEDWDFCCKGLALDLEDGNF
  LKLANNGTVLRASHGTKMMTPEVLAEAYGKKEWKHFLSDTGMACRSGKYYFYDNYFDLPGALLCARVVDYLTKLN
  NGQKTFDFWKDIVAAIQHNYKMSAFKENCGIYFPEIKRDPGRYLHSCPESVKKWLRQLKNAGKILLLITSSHSDY
  CRLLCEYILGNDFTDLFDIVITNALKPGFFSHLPSQRPFRTLENDEEQEALPSLDKPGWYSQGNAVHLYELLKKM
  TGKPEPKVVYFGDSMHSDIFPARHYSNWETVLILEELRGDEGTRSQRPEESEPLEKKGKYEGPKAKPLNTSSKKW
  GSFFIDSVLGLENTEDSLVYTWSCKRISTYSTIAIPSIEAIAELPLDYKFTRFSSSNSKTAGYYPNPPLVLSSDE
  TLISK

• Structural information:
  • Interpro: IPR036412  IPR008380  IPR023214  
  • STRING: ENSP00000326858
• Other Databases: GeneCards:  NT5DC1  Malacards:  NT5DC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008253	5'-nucleotidase activity	IBA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016311	dephosphorylation	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray