• Gene id: 9615

Gene Summary

• Gene Symbol: GDA   Gene   UCSC   Ensembl
• Aliases: CYPIN, GAH, GUANASE, NEDASIN
• Gene name: guanine deaminase
• Alternate names: guanine deaminase, cytoplasmic PSD95 interactor, guanine aminase, guanine aminohydrolase, p51-nedasin,
• Gene location: 9q21.13 (72114594: 72256044)     Exons: 22     NC_000009.12
• Gene summary(Entrez): This gene encodes an enzyme responsible for the hydrolytic deamination of guanine. Studies in rat ortholog suggest this gene plays a role in microtubule assembly. Multiple transcript variants encoding different isoforms have been found for this gene. [pro
• OMIM: 609374

Protein Summary

• Protein general information: Q9Y2T3  
  • Name: Guanine deaminase (Guanase) (Guanine aminase) (EC 3.5.4.3) (Guanine aminohydrolase) (GAH) (p51 nedasin)
  • Length: 454  
  • Mass: 51003
• Sequence:

  MCAAQMPPLAHIFRGTFVHSTWTCPMEVLRDHLLGVSDSGKIVFLEEASQQEKLAKEWCFKPCEIRELSHHEFFM
  PGLVDTHIHASQYSFAGSSIDLPLLEWLTKYTFPAEHRFQNIDFAEEVYTRVVRRTLKNGTTTACYFATIHTDSS
  LLLADITDKFGQRAFVGKVCMDLNDTFPEYKETTEESIKETERFVSEMLQKNYSRVKPIVTPRFSLSCSETLMGE
  LGNIAKTRDLHIQSHISENRDEVEAVKNLYPSYKNYTSVYDKNNLLTNKTVMAHGCYLSAEELNVFHERGASIAH
  CPNSNLSLSSGFLNVLEVLKHEVKIGLGTDVAGGYSYSMLDAIRRAVMVSNILLINKVNEKSLTLKEVFRLATLG
  GSQALGLDGEIGNFEVGKEFDAILINPKASDSPIDLFYGDFFGDISEAVIQKFLYLGDDRNIEEVYVGGKQVVPF
  SSSV

• Structural information:
  • Interpro: IPR006680  IPR014311  IPR011059  IPR032466  
  • CDD: cd01303
  • PDB: 2UZ9 3E0L 4AQL
  • PDBsum: 2UZ9 3E0L 4AQL
  • STRING: ENSP00000238018
• Other Databases: GeneCards:  GDA  Malacards:  GDA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008270	zinc ion binding	IBA	molecular function
GO:0008892	guanine deaminase activity	IBA	molecular function
GO:0019239	deaminase activity	IBA	molecular function
GO:0046098	guanine metabolic process	IBA	biological process
GO:0006147	guanine catabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008892	guanine deaminase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0008892	guanine deaminase activity	TAS	molecular function
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0005622	intracellular	TAS	cellular component
GO:0008892	guanine deaminase activity	IEA	molecular function
GO:0006195	purine nucleotide catabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0006147	guanine catabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq