• Gene id: 84267

Gene Summary

• Gene Symbol: C9orf64   Gene   UCSC   Ensembl
• Gene name: chromosome 9 open reading frame 64
• Alternate names: queuosine salvage protein, UPF0553 protein C9orf64,
• Gene location: 9q21.32 (83956985: 83938310)     Exons: 6     NC_000009.12
• OMIM: 611342

Protein Summary

• Protein general information: Q5T6V5  
  • Name: Queuosine salvage protein
  • Length: 341  
  • Mass: 39029
• Sequence:

  MDGLLNPRESSKFIAENSRDVFIDSGGVRRVAELLLAKAAGPELRVEGWKALHELNPRAADEAAVNWVFVTDTLN
  FSFWSEQDEHKCVVRYRGKTYSGYWSLCAAVNRALDEGIPITSASYYATVTLDQVRNILRSDTDVSMPLVEERHR
  ILNETGKILLEKFGGSFLNCVRESENSAQKLMHLVVESFPSYRDVTLFEGKRVSFYKRAQILVADTWSVLEGKGD
  GCFKDISSITMFADYRLPQVLAHLGALKYSDDLLKKLLKGEMLSYGDRQEVEIRGCSLWCVELIRDCLLELIEQK
  GEKPNGEINSILLDYYLWDYAHDHREDMKGIPFHRIRCIYY

• Structural information:
  • Interpro: IPR019438  
  • STRING: ENSP00000365522
• Other Databases: GeneCards:  C9orf64  Malacards:  C9orf64

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006400	tRNA modification	IBA	biological process
GO:0101030	tRNA-guanine transglycosylation	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005575	cellular_component	ND	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	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			13 (5 controls, 8 cases)	Male infertility	GSE6967 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