• Gene id: 2987

Gene Summary

• Gene Symbol: GUK1   Gene   UCSC   Ensembl
• Aliases: GMK
• Gene name: guanylate kinase 1
• Alternate names: guanylate kinase, ATP:GMP phosphotransferase, GMP kinase,
• Gene location: 1q42.13 (125747371: 125967376)     Exons: 11     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Sever
• OMIM: 139270

Protein Summary

• Protein general information: Q16774  
  • Name: Guanylate kinase (EC 2.7.4.8) (GMP kinase) (Guanylate kinase 1)
  • Length: 197  
  • Mass: 21726
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MSGPRPVVLSGPSGAGKSTLLKRLLQEHSGIFGFSVSHTTRNPRPGEENGKDYYFVTREVMQRDIAAGDFIEHAE
  FSGNLYGTSKVAVQAVQAMNRICVLDVDLQGVRNIKATDLRPIYISVQPPSLHVLEQRLRQRNTETEESLVKRLA
  AAQADMESSKEPGLFDVVIINDSLDQAYAELKEALSEEIKKAQRTGA

• Structural information:
  • Protein Domains: (4..18-)
    (/note="Guanylate-kinase-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00100"-)
  • Interpro: IPR008145  IPR008144  IPR017665  IPR020590  IPR027417  
  • Prosite: PS00856 PS50052
  • PDB: 6NUI
  • PDBsum: 6NUI
  • STRING: ENSP00000355689
• Other Databases: GeneCards:  GUK1  Malacards:  GUK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004385	guanylate kinase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006805	xenobiotic metabolic process	IDA	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0006185	dGDP biosynthetic process	IMP	biological process
GO:0004385	guanylate kinase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	ISS	molecular function
GO:0001917	photoreceptor inner segment	ISS	cellular component
GO:0004385	guanylate kinase activity	IEA	molecular function
GO:0006163	purine nucleotide metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004385	guanylate kinase activity	IEA	molecular function
GO:0004385	guanylate kinase activity	IDA	molecular function
GO:0004385	guanylate kinase activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0015949	nucleobase-containing small molecule interconversion	TAS	biological process
GO:0046711	GDP biosynthetic process	IEA	biological process
GO:0046054	dGMP metabolic process	IEA	biological process
GO:0046037	GMP metabolic process	IEA	biological process
GO:0046034	ATP metabolic process	IEA	biological process
GO:0034436	glycoprotein transport	IEA	biological process
GO:0006185	dGDP biosynthetic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004385	guanylate kinase activity	IEA	molecular function
GO:0046939	nucleotide phosphorylation	IEA	biological process
GO:0046060	dATP metabolic process	IEA	biological process
GO:0019673	GDP-mannose metabolic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0006163	purine nucleotide metabolic process	IDA	biological process
GO:0004385	guanylate kinase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
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