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Aliases for GUK1 Gene

Aliases for GUK1 Gene

  • Guanylate Kinase 1 2 3 5
  • GMP Kinase 3 4
  • EC 2.7.4.8 4 56
  • GMK 3 4
  • ATP:GMP Phosphotransferase 3
  • Guanylate Kinase 3

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 Retinitis Pigmentosa. Among its related pathways are superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include guanylate kinase activity. An important paralog of this gene is MPP7.

UniProtKB/Swiss-Prot for GUK1 Gene

  • Essential for recycling GMP and indirectly, cGMP.

Gene Wiki entry for GUK1 Gene

Additional gene information for GUK1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUK1 Gene

Genomics for GUK1 Gene

GeneHancer (GH) Regulatory Elements for GUK1 Gene

Promoters and enhancers for GUK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I228137 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.4 2422 8.8 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 GUK1 OBSCN CICP26 CDC42BPA ENSG00000269890 OBSCN-AS1 FAM96AP2 MRPL55 JMJD4 HIST3H3
GH01I228178 Enhancer 1.1 Ensembl ENCODE 5.9 +39.4 39357 1.8 PKNOX1 SMAD1 ATF1 ARNT TCF12 ZNF121 GATA2 ATF7 NCOA1 MBD2 GC01P228181 PIR41583 PIR60130 OBSCN GUK1 IBA57
GH01I228147 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 0.4 +10.7 10708 5 PKNOX1 ARID4B KLF17 GLIS2 EGR2 SP5 REST ZNF398 PPARG ZFP69B GJC2 OBSCN-AS1 OBSCN IBA57 ENSG00000269934 GUK1 GC01P228162
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GUK1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GUK1 gene promoter:

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)

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.
    Miscellaneous:
    • In addition to phosphorylating GMP, antiviral prodrugs such as acyclovir, ganciclovir, and carbovir and anticancer prodrugs such as the thiopurines are dependent on GMPK for their activation.

    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

Domains & Families for GUK1 Gene

Gene Families for GUK1 Gene

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

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

GENATLAS Biochemistry:
guanylate kinase 1
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + GMP = ADP + GDP.
UniProtKB/Swiss-Prot Function:
Essential for recycling GMP and indirectly, cGMP.

Enzyme Numbers (IUBMB) for GUK1 Gene

Gene Ontology (GO) - Molecular Function for GUK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004385 guanylate kinase activity IDA,EXP 8663313
GO:0005524 ATP binding IEA --
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

Clone Products

  • Addgene plasmids for GUK1

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

Localization for GUK1 Gene

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
plasma membrane 2
nucleus 2
cytoskeleton 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:0005829 cytosol IBA,TAS --
genes like me logo Genes that share ontologies with GUK1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GUK1 Gene

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 IEA,IDA 8663313
GO:0006185 dGDP biosynthetic process IEA --
GO:0015949 nucleobase-containing small molecule interconversion TAS --
GO:0016310 phosphorylation IEA --
GO:0019673 GDP-mannose metabolic process 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine monophosphate Experimental Pharma Target 0
2'-Deoxyguanosine-5'-Monophosphate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
ATP Investigational Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
dGDP
  • 2'-Deoxy-GDP
  • 2'-Deoxyguanosine-5'-diphosphate
  • 5'-dGDP
  • Deoxyguanosine 5'-diphosphate
  • Deoxyguanosine diphosphate
3493-09-2
genes like me logo Genes that share compounds with GUK1: view

Transcripts for GUK1 Gene

Unigene Clusters for GUK1 Gene

Guanylate kinase 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
GUK1

Expression for GUK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for GUK1 Gene



Protein tissue co-expression partners for GUK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GUK1 Gene:

GUK1

SOURCE GeneReport for Unigene cluster for GUK1 Gene:

Hs.376933

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 , mRNA Expression by UniProt/SwissProt 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 33 34
  • 99.07 (n)
cow
(Bos Taurus)
Mammalia GUK1 33 34
  • 86.02 (n)
dog
(Canis familiaris)
Mammalia GUK1 33 34
  • 84.25 (n)
mouse
(Mus musculus)
Mammalia Guk1 33 16 34
  • 83 (n)
rat
(Rattus norvegicus)
Mammalia Guk1 33
  • 82.23 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 68 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GUK1 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUK1 33 34
  • 70.58 (n)
lizard
(Anolis carolinensis)
Reptilia GUK1 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia guk1 33
  • 67.01 (n)
LOC394964 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16484 33
zebrafish
(Danio rerio)
Actinopterygii guk1a 33 34
  • 69.43 (n)
guk1b 34
  • 53 (a)
OneToMany
zgc73128 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.779 33
fruit fly
(Drosophila melanogaster)
Insecta CG11811 35 33 34
  • 61 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011105 33
  • 60.31 (n)
worm
(Caenorhabditis elegans)
Secernentea guk-1 33 34
  • 54.56 (n)
T03F1.8 35
  • 54 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER309W 33
  • 56.88 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01694g 33
  • 53.65 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUK1 33 34
  • 49.36 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AGK2 33
  • 51.01 (n)
rice
(Oryza sativa)
Liliopsida Os12g0515600 33
  • 51.45 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06300 33
  • 58.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6777 34
  • 56 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC1198.05 33
  • 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)

Paralogs for GUK1 Gene

Paralogs for GUK1 Gene

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

Variants for GUK1 Gene

Sequence variations from dbSNP and Humsavar for GUK1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000132222 -- 228,137,997(+) T/C upstream_transcript_variant
rs1000547808 -- 228,149,365(+) C/T downstream_transcript_variant
rs1000698950 -- 228,145,365(+) C/T intron_variant
rs1000806904 -- 228,147,317(+) G/A intron_variant
rs1001174678 -- 228,146,221(+) C/T intron_variant

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

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

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GUK1 Gene

Disorders for GUK1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GUK1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • rp
- 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 22 58
  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 22 58
  3. 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 22 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for GUK1 Gene

Sources for GUK1 Gene

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