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Aliases for UCK1 Gene

Aliases for UCK1 Gene

  • Uridine-Cytidine Kinase 1 2 3 5
  • Cytidine Monophosphokinase 1 3 4
  • Uridine Monophosphokinase 1 3 4
  • EC 2.7.1.48 4 63
  • URK1 3 4
  • UCK 1 4

External Ids for UCK1 Gene

Previous GeneCards Identifiers for UCK1 Gene

  • GC09M125413
  • GC09M125945
  • GC09M127752
  • GC09M129675
  • GC09M131428
  • GC09M133389
  • GC09M134399
  • GC09M103893

Summaries for UCK1 Gene

Entrez Gene Summary for UCK1 Gene

  • This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]

GeneCards Summary for UCK1 Gene

UCK1 (Uridine-Cytidine Kinase 1) is a Protein Coding gene. Diseases associated with UCK1 include kabuki syndrome 1. Among its related pathways are Metabolism and Pyrimidine metabolism (REACTOME). GO annotations related to this gene include kinase activity and dephospho-CoA kinase activity. An important paralog of this gene is UCK2.

UniProtKB/Swiss-Prot for UCK1 Gene

  • Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UCK1 Gene

Genomics for UCK1 Gene

Regulatory Elements for UCK1 Gene

Promoters for UCK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UCK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UCK1 Gene

Chromosome:
9
Start:
131,523,796 bp from pter
End:
131,531,275 bp from pter
Size:
7,480 bases
Orientation:
Minus strand

Genomic View for UCK1 Gene

Genes around UCK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UCK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UCK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UCK1 Gene

Proteins for UCK1 Gene

  • Protein details for UCK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HA47-UCK1_HUMAN
    Recommended name:
    Uridine-cytidine kinase 1
    Protein Accession:
    Q9HA47
    Secondary Accessions:
    • Q5JT09
    • Q5JT10
    • Q5JT12
    • Q5JT13
    • Q6IA74
    • Q96BJ0

    Protein attributes for UCK1 Gene

    Size:
    277 amino acids
    Molecular mass:
    31435 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for UCK1 Gene

    Alternative splice isoforms for UCK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UCK1 Gene

Proteomics data for UCK1 Gene at MOPED

Post-translational modifications for UCK1 Gene

  • Ubiquitination at Lys 81
  • Modification sites at PhosphoSitePlus

Domains & Families for UCK1 Gene

Protein Domains for UCK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9HA47

UniProtKB/Swiss-Prot:

UCK1_HUMAN :
  • Belongs to the uridine kinase family.
Family:
  • Belongs to the uridine kinase family.
genes like me logo Genes that share domains with UCK1: view

No data available for Gene Families for UCK1 Gene

Function for UCK1 Gene

Molecular function for UCK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + uridine = ADP + UMP.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + cytidine = ADP + CMP.
UniProtKB/Swiss-Prot Function:
Phosphorylates uridine and cytidine to uridine monophosphate and cytidine monophosphate. Does not phosphorylate deoxyribonucleosides or purine ribonucleosides. Can use ATP or GTP as a phosphate donor. Can also phosphorylate cytidine and uridine nucleoside analogs such as 6-azauridine, 5-fluorouridine, 4-thiouridine, 5-bromouridine, N(4)-acetylcytidine, N(4)-benzoylcytidine, 5-fluorocytidine, 2-thiocytidine, 5-methylcytidine, and N(4)-anisoylcytidine.

Enzyme Numbers (IUBMB) for UCK1 Gene

Gene Ontology (GO) - Molecular Function for UCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with UCK1: view
genes like me logo Genes that share phenotypes with UCK1: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UCK1 Gene

Localization for UCK1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UCK1 Gene COMPARTMENTS Subcellular localization image for UCK1 gene
Compartment Confidence
cytosol 5
nucleus 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for UCK1 Gene

Pathways & Interactions for UCK1 Gene

genes like me logo Genes that share pathways with UCK1: view

Pathways by source for UCK1 Gene

UniProtKB/Swiss-Prot Q9HA47-UCK1_HUMAN

  • Pathway: Pyrimidine metabolism; CTP biosynthesis via salvage pathway; CTP from cytidine: step 1/3.
  • Pathway: Pyrimidine metabolism; UMP biosynthesis via salvage pathway; UMP from uridine: step 1/1.

Interacting Proteins for UCK1 Gene

Gene Ontology (GO) - Biological Process for UCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006206 pyrimidine nucleobase metabolic process IBA,TAS --
GO:0009165 nucleotide biosynthetic process IEA --
GO:0044211 CTP salvage IEA --
GO:0044281 small molecule metabolic process TAS --
GO:0055086 nucleobase-containing small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with UCK1: view

No data available for SIGNOR curated interactions for UCK1 Gene

Drugs & Compounds for UCK1 Gene

(13) Drugs for UCK1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Uridine Experimental Pharma 0
5-Fluorouridine Experimental Pharma 0
Cytidine Experimental Pharma 0
dctp Experimental Pharma 0

(12) Additional Compounds for UCK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Fluorouridine monophosphate
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Cytidine monophosphate
  • 5'-CMP
  • 5-Cytidylate
  • 5-Cytidylic acid
  • CMP
  • Cytidine 5'-monophosphate
63-37-6
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • dADP
  • Deoxyadenosine diphosphate
2793-06-8
dcdp
  • 2'-Deoxy-Cytidine 5'-pyrophosphate
  • 2'-Deoxy-Cytidine pyrophosphate
  • 2'-Deoxycytidine 5'-diphosphate
  • 2'-Deoxycytidine diphosphate
  • 2'-Deoxycytidine-5'-diphosphate
800-73-7
genes like me logo Genes that share compounds with UCK1: view

Transcripts for UCK1 Gene

Unigene Clusters for UCK1 Gene

Uridine-cytidine kinase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UCK1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
SP1: - - - - -
SP2: - -
SP3: - - - -
SP4: - - - -
SP5: - -
SP6: -
SP7: -

Relevant External Links for UCK1 Gene

GeneLoc Exon Structure for
UCK1
ECgene alternative splicing isoforms for
UCK1

Expression for UCK1 Gene

mRNA expression in normal human tissues for UCK1 Gene

Protein differential expression in normal tissues from HIPED for UCK1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.3), Testis (18.9), and Heart (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UCK1 Gene



SOURCE GeneReport for Unigene cluster for UCK1 Gene Hs.9597

mRNA Expression by UniProt/SwissProt for UCK1 Gene

Q9HA47-UCK1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with UCK1: view

Protein tissue co-expression partners for UCK1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for UCK1 Gene

Orthologs for UCK1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UCK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UCK1 35
  • 87.85 (n)
  • 93.86 (a)
UCK1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UCK1 35
  • 88.97 (n)
  • 93.05 (a)
UCK1 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uck1 35
  • 86.76 (n)
  • 91.7 (a)
Uck1 16
Uck1 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uck1 35
  • 87.61 (n)
  • 92.06 (a)
oppossum
(Monodelphis domestica)
Mammalia UCK1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UCK1 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UCK1 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves UCK1 35
  • 81.48 (n)
  • 88.15 (a)
UCK1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UCK1 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491950 35
  • 77.74 (n)
  • 85.24 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68736 35
zebrafish
(Danio rerio)
Actinopterygii uck1 35
  • 72.5 (n)
  • 80.61 (a)
uck1 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6364 37
  • 67 (a)
CG6364 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0001.4 37
  • 50 (a)
B0001.4 36
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URK1 36
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6934 36
  • 53 (a)
OneToMany
Species with no ortholog for UCK1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UCK1 Gene

ENSEMBL:
Gene Tree for UCK1 (if available)
TreeFam:
Gene Tree for UCK1 (if available)

Paralogs for UCK1 Gene

Paralogs for UCK1 Gene

(2) SIMAP similar genes for UCK1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for UCK1 Gene

genes like me logo Genes that share paralogs with UCK1: view

Variants for UCK1 Gene

Sequence variations from dbSNP and Humsavar for UCK1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs2282010 -- 131,530,211(-) CTGTG(A/G)TCCTG intron-variant
rs2282011 -- 131,530,028(-) AGATG(C/T)GGCAG intron-variant
rs2296956 -- 131,529,397(-) CCTCC(C/G)CCGGT intron-variant
rs2296957 -- 131,525,948(-) ATCCC(A/G/T)CGAGG nc-transcript-variant, reference, synonymous-codon, missense
rs4113141 -- 131,531,698(+) GCTGT(C/T)GCCTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for UCK1 Gene

Variant ID Type Subtype PubMed ID
essv2695 CNV CNV 17122850
dgv2424e1 CNV Complex 17122850
nsv818728 CNV Gain 17921354
esv34928 CNV Gain 17911159
nsv831741 CNV Loss 17160897
nsv517936 CNV Loss 19592680
nsv893990 CNV Loss 21882294
nsv893991 CNV Loss 21882294
nsv831742 CNV Loss 17160897
nsv438114 CNV Loss 16468122
nsv466603 CNV Loss 19166990
dgv8313n71 CNV Loss 21882294
dgv8314n71 CNV Loss 21882294
dgv8315n71 CNV Loss 21882294
nsv894005 CNV Loss 21882294
nsv8574 CNV Gain 18304495
nsv894006 CNV Gain 21882294

Variation tolerance for UCK1 Gene

Residual Variation Intolerance Score: 26.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UCK1 Gene

HapMap Linkage Disequilibrium report
UCK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UCK1 Gene

Disorders for UCK1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UCK1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards
Search UCK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for UCK1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UCK1
genes like me logo Genes that share disorders with UCK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UCK1 Gene

Publications for UCK1 Gene

  1. Phosphorylation of uridine and cytidine nucleoside analogs by two human uridine-cytidine kinases. (PMID: 11306702) Van Rompay A.R. … Karlsson A. (Mol. Pharmacol. 2001) 2 3 4 23 67
  2. Evaluation of the role of three candidate human kinases in the conversion of the hepatitis C virus inhibitor 2'-C-methyl-cytidine to its 5'-monophosphate metabolite. (PMID: 19883694) Golitsina N.L. … Standring D.N. (Antiviral Res. 2010) 3 23
  3. Human uridine-cytidine kinase phosphorylation of ribavirin: a convenient method for activation of ribavirin for conjugation to proteins. (PMID: 18080217) Virovic Jukic L. … Wu G.Y. (J. Biomed. Sci. 2008) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for UCK1 Gene

Sources for UCK1 Gene

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