GUK1 (guanylate kinase 1)

Gene

• Entrez ID: 2987
• Gene name: Guanylate kinase 1
• Gene symbol: GUK1
• Synonyms (NCBI Gene): GMK, MTDPS21
• Chromosome: 1
• Chromosome location: 1q42.13
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022938	hsa-miR-124-3p	Microarray	18668037
MIRT1038509	hsa-miR-198	CLIP-seq
MIRT1038510	hsa-miR-2392	CLIP-seq
MIRT1038511	hsa-miR-4292	CLIP-seq
MIRT1038512	hsa-miR-520a-5p	CLIP-seq
MIRT1038513	hsa-miR-525-5p	CLIP-seq
MIRT1038514	hsa-miR-651	CLIP-seq
MIRT1038515	hsa-miR-759	CLIP-seq
MIRT1038509	hsa-miR-198	CLIP-seq
MIRT1038511	hsa-miR-4292	CLIP-seq
MIRT1038512	hsa-miR-520a-5p	CLIP-seq
MIRT1038513	hsa-miR-525-5p	CLIP-seq
MIRT1038515	hsa-miR-759	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0004385	Function	GMP kinase activity	EXP	8663313
GO:0004385	Function	GMP kinase activity	IBA
GO:0004385	Function	GMP kinase activity	IDA	8663313
GO:0004385	Function	GMP kinase activity	IEA
GO:0004385	Function	GMP kinase activity	IMP	31201273
GO:0004385	Function	GMP kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	28514442, 29515371, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	39230499
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006163	Process	Purine nucleotide metabolic process	IDA	8663313
GO:0006163	Process	Purine nucleotide metabolic process	IEA
GO:0006185	Process	DGDP biosynthetic process	IEA
GO:0006185	Process	DGDP biosynthetic process	IMP	31201273
GO:0006805	Process	Xenobiotic metabolic process	IDA	6306664
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0015949	Process	Nucleobase-containing small molecule interconversion	TAS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019673	Process	GDP-mannose metabolic process	IEA
GO:0034436	Process	Glycoprotein transport	IEA
GO:0046037	Process	GMP metabolic process	IEA
GO:0046054	Process	DGMP metabolic process	IEA
GO:0046060	Process	DATP metabolic process	IEA
GO:0046711	Process	GDP biosynthetic process	IEA

Other IDs

• MIM: 139270
• HGNC: 4693
• e!Ensembl: ENSG00000143774

Protein

• UniProt ID: Q16774
• Protein name: Guanylate kinase (EC 2.7.4.8) (GMP kinase) (Guanylate kinase 1)
• Protein function: Catalyzes the phosphorylation of GMP to GDP. Essential enzyme for recycling GMP and indirectly, cyclic GMP (cGMP) (PubMed:31201273). Involved in the cGMP metabolism in photoreceptors (By similarity). It may also have a role in the survival and g
• PDB: 6NUI, 8PTS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00625	Guanylate_kin	3 → 188	Guanylate kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:8663313}.
• Sequence:

  MSGPRPVVLSGPSGAGKSTLLKRLLQEHSGIFGFSVSHTTRNPRPGEENGKDYYFVTREV
  MQRDIAAGDFIEHAEFSGNLYGTSKVAVQAVQAMNRICVLDVDLQGVRNIKATDLRPIYI
  SVQPPSLHVLEQRLRQRNTETEESLVKRLAAAQADMESSKEPGLFDVVIINDSLDQAYAE
  LKEALSEEIKKAQRTGA

• Sequence length: 197

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Nucleotide metabolism

Reactome:

Interconversion of nucleotide di- and triphosphates

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DNA DEPLETION SYNDROME 21	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31201273		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	16832584		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	16832584		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	28283559		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29382759		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35351580	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	23539218	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	23539218		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24381070		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29281827		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31201273		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11543626		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30610199		★☆☆☆☆ Found in Text Mining only
Ophthalmoplegia	Ophthalmoplegia	Pubtator	39230499	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	8647247	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	8647247	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28283559		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	39230499	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	25760063		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	27932480		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	39230499	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome type 2A	Usher syndrome	Pubtator	8647247	Associate	★☆☆☆☆ Found in Text Mining only
Usher Syndromes	Usher syndrome	Pubtator	8647247	Associate	★☆☆☆☆ Found in Text Mining only