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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011] See more...

Aliases for GUK1 Gene

Aliases for GUK1 Gene

  • Guanylate Kinase 1 2 3 4 5
  • Guanylate Kinase 3 4
  • GMP Kinase 3 4
  • EC 2.7.4.8 4 52
  • GMK 3 4
  • ATP:GMP Phosphotransferase 3
  • GMPK 4

External Ids for GUK1 Gene

Previous GeneCards Identifiers for GUK1 Gene

  • GC01P226825
  • GC01P224066
  • GC01P224713
  • GC01P225302
  • GC01P224634
  • GC01P226394
  • GC01P228327
  • GC01P198842

Summaries for GUK1 Gene

Entrez Gene Summary for GUK1 Gene

  • 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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

GeneCards Summary for GUK1 Gene

GUK1 (Guanylate Kinase 1) is a Protein Coding gene. Diseases associated with GUK1 include Cataract 28 and Epidemic Pleurodynia. Among its related pathways are superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis and purine nucleotides de novo biosynthesis. Gene Ontology (GO) annotations related to this gene include guanylate kinase activity.

UniProtKB/Swiss-Prot Summary for GUK1 Gene

  • 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 growth progression of some tumors (PubMed:31201273). In addition to its physiological role, GUK1 is essential for convert prodrugs used for the treatment of cancers and viral infections into their pharmacologically active metabolites, most notably acyclovir, ganciclovir, and 6-thioguanine and its closely related analog 6-mercaptopurine (PubMed:197968, PubMed:6248551, PubMed:6306664).

Gene Wiki entry for GUK1 Gene

Additional gene information for GUK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GUK1 Gene

Genomics for GUK1 Gene

GeneHancer (GH) Regulatory Elements for GUK1 Gene

Promoters and enhancers for GUK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GUK1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GUK1

Top Transcription factor binding sites by QIAGEN in the GUK1 gene promoter:
  • Arnt
  • ATF
  • ATF6
  • CUTL1
  • MyoD
  • p53
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox5

Genomic Locations for GUK1 Gene

Genomic Locations for GUK1 Gene
chr1:228,139,643-228,148,984
(GRCh38/hg38)
Size:
9,342 bases
Orientation:
Plus strand
chr1:228,327,663-228,336,685
(GRCh37/hg19)
Size:
9,023 bases
Orientation:
Plus strand

Genomic View for GUK1 Gene

Genes around GUK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GUK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUK1 Gene

Proteins for GUK1 Gene

  • Protein details for GUK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16774-KGUA_HUMAN
    Recommended name:
    Guanylate kinase
    Protein Accession:
    Q16774
    Secondary Accessions:
    • B1ANH1

    Protein attributes for GUK1 Gene

    Size:
    197 amino acids
    Molecular mass:
    21726 Da
    Quaternary structure:
    • Monomer (PubMed:31201273). Interacts with RD3 (PubMed:29515371).

    Three dimensional structures from OCA and Proteopedia for GUK1 Gene

    Alternative splice isoforms for GUK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GUK1 Gene

Selected DME Specific Peptides for GUK1 Gene

Q16774:
  • GDFIEHA
  • SGPSGAGK
  • GNLYGTS

Post-translational modifications for GUK1 Gene

  • Ubiquitination at Lys51
  • Modification sites at PhosphoSitePlus

Domains & Families for GUK1 Gene

Gene Families for GUK1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for GUK1 Gene

Suggested Antigen Peptide Sequences for GUK1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54844, highly similar to Guanylate kinase (EC 2.7.4.8) (B4E1H6_HUMAN)
  • GMP kinase (KGUA_HUMAN)
  • Guanylate kinase 1, isoform CRA_a (Q6IBG8_HUMAN)
  • GUK1 protein (Q96IN2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16774

UniProtKB/Swiss-Prot:

KGUA_HUMAN :
  • Belongs to the guanylate kinase family.
Family:
  • Belongs to the guanylate kinase family.
genes like me logo Genes that share domains with GUK1: view

Function for GUK1 Gene

Molecular function for GUK1 Gene

UniProtKB/Swiss-Prot 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 growth progression of some tumors (PubMed:31201273). In addition to its physiological role, GUK1 is essential for convert prodrugs used for the treatment of cancers and viral infections into their pharmacologically active metabolites, most notably acyclovir, ganciclovir, and 6-thioguanine and its closely related analog 6-mercaptopurine (PubMed:197968, PubMed:6248551, PubMed:6306664).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + GMP = ADP + GDP; Xref=Rhea:RHEA:20780, ChEBI:CHEBI:30616, ChEBI:CHEBI:58115, ChEBI:CHEBI:58189, ChEBI:CHEBI:456216; EC=2.7.4.8; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Up-regulated by RD3.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=20.7 uM for GMP {ECO:0000269 PubMed:31201273}; Note=kcat is 58.5 sec(-1) with GMP as substrate. {ECO:0000269 PubMed:31201273};
GENATLAS Biochemistry:
guanylate kinase 1

Enzyme Numbers (IUBMB) for GUK1 Gene

Phenotypes From GWAS Catalog for GUK1 Gene

Gene Ontology (GO) - Molecular Function for GUK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity IMP,EXP 31201273
GO:0005515 protein binding IPI 29515371
GO:0005524 ATP binding ISS --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with GUK1: view
genes like me logo Genes that share phenotypes with GUK1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for GUK1

CRISPR Products

Clone Products

  • Addgene plasmids for GUK1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GUK1 Gene

Localization for GUK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUK1 Gene

Photoreceptor inner segment. Cytoplasm, cytosol. Note=Colocalizes with RD3 in photoreceptor inner segments and to a lesser extent in the outer plexiform layer. {ECO:0000250 UniProtKB:Q64520}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GUK1 gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GUK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GUK1: view

Pathways & Interactions for GUK1 Gene

genes like me logo Genes that share pathways with GUK1: view

Gene Ontology (GO) - Biological Process for GUK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006163 purine nucleotide metabolic process IDA,IEA 8663313
GO:0006185 dGDP biosynthetic process IEA,IMP 31201273
GO:0006805 xenobiotic metabolic process IDA 6306664
GO:0015949 nucleobase-containing small molecule interconversion TAS --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with GUK1: view

No data available for SIGNOR curated interactions for GUK1 Gene

Drugs & Compounds for GUK1 Gene

(18) Drugs for GUK1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acyclovir Approved Pharma Enzyme, substrate 117
Valaciclovir Approved, Investigational Pharma Enzyme, substrate 0
Guanosine monophosphate Experimental Pharma Target 0
Formic acid Experimental, Investigational Pharma Target 0
2'-Deoxyguanosine 5'-monophosphate Experimental Pharma 0

(12) Additional Compounds for GUK1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
dGDP
  • 2'-Deoxyguanosine 5'-diphosphate
  • Deoxyguanosine diphosphate
  • 2'-Deoxyguanosine 5'-diphosphoric acid
  • Deoxyguanosine diphosphoric acid
  • 2'-Deoxy-GDP
3493-09-2
genes like me logo Genes that share compounds with GUK1: view

Transcripts for GUK1 Gene

mRNA/cDNA for GUK1 Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
39 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for GUK1

Alternative Splicing Database (ASD) splice patterns (SP) for GUK1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g ^ 8a · 8b · 8c ^ 9a ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - - - - - - - - - - -
SP7: - - - - - -
SP8: - - - - - - - - - - - - -
SP9: - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - -
SP13: - - - - - - - - - - - - -
SP14: - - -
SP15: - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - - - -
SP17: - - - - - - - - - - - - - -
SP18: - - - - - - - - - - - - - -
SP19: - - - - - - -
SP20: - - -
SP21: - -
SP22: - -
SP23: -
SP24: - - - - - - - - -
SP25: - - - - - - - - - -
SP26: - - - - - - - -
SP27:
SP28: - - - - - - -
SP29:
SP30:
SP31: - - - - - - - - -
SP32: - - - - - - - - -
SP33:

ExUns: 9b · 9c · 9d ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c · 14d · 14e · 14f · 14g · 14h · 14i · 14j · 14k
SP1: -
SP2: -
SP3: -
SP4: -
SP5: - - -
SP6: -
SP7: -
SP8:
SP9: - - -
SP10:
SP11: - - - - -
SP12:
SP13:
SP14: -
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22: - - -
SP23: -
SP24:
SP25:
SP26:
SP27: - -
SP28:
SP29:
SP30: -
SP31:
SP32:
SP33:

Relevant External Links for GUK1 Gene

GeneLoc Exon Structure for
GUK1

Expression for GUK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GUK1 Gene

mRNA differential expression in normal tissues according to GTEx for GUK1 Gene

This gene is overexpressed in Whole Blood (x5.1).

Protein differential expression in normal tissues from HIPED for GUK1 Gene

This gene is overexpressed in Retina (9.9) and Oral epithelium (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GUK1 Gene



Protein tissue co-expression partners for GUK1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GUK1

SOURCE GeneReport for Unigene cluster for GUK1 Gene:

Hs.376933

mRNA Expression by UniProt/SwissProt for GUK1 Gene:

Q16774-KGUA_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for GUK1 Gene

  • Lung(4.8)
  • Eye(4.7)
  • Nervous system(4.6)
  • Liver(4.3)
  • Skin(3.8)
  • Intestine(3.2)
  • Pancreas(3.1)
  • Kidney(3)
  • Bone marrow(2.2)
  • Adrenal gland(2)
  • Gall bladder(2)
  • Heart(2)
  • Lymph node(2)
  • Muscle(2)
  • Spleen(2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with GUK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for GUK1 Gene

Orthologs for GUK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GUK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GUK1 31 30
  • 99.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GUK1 31 30
  • 86.02 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GUK1 31 30
  • 84.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Guk1 17 31 30
  • 83 (n)
rat
(Rattus norvegicus)
Mammalia Guk1 30
  • 82.23 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 68 (a)
OneToMany
-- 31
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GUK1 31
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUK1 31 30
  • 70.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUK1 31
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia guk1 30
  • 67.01 (n)
LOC394964 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16484 30
zebrafish
(Danio rerio)
Actinopterygii guk1a 31 30
  • 69.43 (n)
OneToMany
guk1b 31
  • 53 (a)
OneToMany
zgc73128 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.779 30
fruit fly
(Drosophila melanogaster)
Insecta CG11811 31 32 30
  • 61 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011105 30
  • 60.31 (n)
worm
(Caenorhabditis elegans)
Secernentea guk-1 31 30
  • 54.56 (n)
ManyToMany
T03F1.8 32
  • 54 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER309W 30
  • 56.88 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01694g 30
  • 53.65 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUK1 31 30
  • 49.36 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AGK2 30
  • 51.01 (n)
rice
(Oryza sativa)
Liliopsida Os12g0515600 30
  • 51.45 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06300 30
  • 58.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6777 31
  • 56 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1198.05 30
  • 52.06 (n)
Species where no ortholog for GUK1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GUK1 Gene

ENSEMBL:
Gene Tree for GUK1 (if available)
TreeFam:
Gene Tree for GUK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GUK1: view image

Paralogs for GUK1 Gene

(14) SIMAP similar genes for GUK1 Gene using alignment to 9 proteins:

  • KGUA_HUMAN
  • B1ANG9_HUMAN
  • B1ANH0_HUMAN
  • B1ANH2_HUMAN
  • B1ANH3_HUMAN
  • B1ANH5_HUMAN
  • B1ANH6_HUMAN
  • Q6IBG8_HUMAN
  • Q96IN2_HUMAN
genes like me logo Genes that share paralogs with GUK1: view

No data available for Paralogs for GUK1 Gene

Variants for GUK1 Gene

Additional dbSNP identifiers (rs#s) for GUK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GUK1 Gene

Variant ID Type Subtype PubMed ID
dgv839n54 CNV loss 21841781
esv32853 CNV gain 17666407
nsv1160102 CNV deletion 26073780
nsv523935 CNV loss 19592680
nsv549290 CNV loss 21841781
nsv826908 CNV gain 20364138
nsv827019 CNV loss 20364138
nsv952137 CNV deletion 24416366

Variation tolerance for GUK1 Gene

Residual Variation Intolerance Score: 55.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GUK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GUK1 Gene

Disorders for GUK1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for GUK1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cataract 28
  • ctrct28
epidemic pleurodynia
  • bamble disease
salivary gland carcinoma
  • salivary gland cancer
internal hordeolum
brugada syndrome 4
  • brgda4
- elite association - COSMIC cancer census association via MalaCards
Search GUK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GUK1

genes like me logo Genes that share disorders with GUK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GUK1 Gene

Publications for GUK1 Gene

  1. Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation. (PMID: 8647247) Fitzgibbon J … Hunt DM (FEBS letters 1996) 2 3 4 23 54
  2. Cloning, characterization, and modeling of mouse and human guanylate kinases. (PMID: 8663313) Brady WA … Black ME (The Journal of biological chemistry 1996) 3 4 23 54
  3. Solution structure and functional investigation of human guanylate kinase reveals allosteric networking and a crucial role for the enzyme in cancer. (PMID: 31201273) Khan N … Sabo TM (The Journal of biological chemistry 2019) 3 4 54
  4. Control of the Nucleotide Cycle in Photoreceptor Cell Extracts by Retinal Degeneration Protein 3. (PMID: 29515371) Wimberg H … Koch KW (Frontiers in molecular neuroscience 2018) 3 4 54
  5. Hepatocyte growth factor-regulated tyrosine kinase substrate (HGS) and guanylate kinase 1 (GUK1) are differentially expressed in GH-secreting adenomas. (PMID: 16832584) da Rocha AA … Giannella-Neto D (Pituitary 2006) 3 23 54

Products for GUK1 Gene