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 r... See more...

Aliases for UCK1 Gene

Aliases for UCK1 Gene

  • Uridine-Cytidine Kinase 1 2 3 4 5
  • URK1 2 3 4
  • Cytidine Monophosphokinase 1 3 4
  • Uridine Monophosphokinase 1 3 4
  • EC 2.7.1.48 4 51
  • FLJ12255 2
  • UCK 1 4
  • UCK1 5

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 Muscular Dystrophy-Dystroglycanopathy. Among its related pathways are Metabolism of nucleotides and Metabolism. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UCK1 Gene

Genomics for UCK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UCK1 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 UCK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UCK1

Top Transcription factor binding sites by QIAGEN in the UCK1 gene promoter:
  • ATF6
  • FOXL1
  • LUN-1
  • Max1
  • N-Myc
  • NRSF form 2
  • p53
  • RREB-1
  • Zic1
  • ZIC2

Genomic Locations for UCK1 Gene

Genomic Locations for UCK1 Gene
chr9:131,523,796-131,531,275
(GRCh38/hg38)
Size:
7,480 bases
Orientation:
Minus strand
chr9:134,399,183-134,406,662
(GRCh37/hg19)
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

Selected DME Specific Peptides for UCK1 Gene

Q9HA47:
  • ADVIIPRG
  • QEIRDMF
  • DHPDAFD
  • RPFLIGVSGGTASGKSTVC
  • VEVPTYD
  • VAINLIVQHIQD
  • KIMELLGQN
  • RGRDLEQ
  • EQKAKALKGQ
  • YPADVVLFEGIL
  • LLGQNEV
  • RLSRRVLRD

Post-translational modifications for UCK1 Gene

  • Ubiquitination at Lys81
  • Modification sites at PhosphoSitePlus

Domains & Families for UCK1 Gene

Gene Families for UCK1 Gene

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

Protein Domains for UCK1 Gene

InterPro:
Blocks:
  • Uridine kinase signature
ProtoNet:

Suggested Antigen Peptide Sequences for UCK1 Gene

GenScript: Design optimal peptide antigens:
  • Uridine-cytidine kinase 1 (Q5JT09_HUMAN)
  • cDNA FLJ52965, highly similar to Uridine-cytidine kinase 1 (EC 2.7.1.48) (Q5JT10_HUMAN)
  • Uridine monophosphokinase 1 (UCK1_HUMAN)

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

Function for UCK1 Gene

Molecular function for UCK1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + uridine = ADP + H(+) + UMP; Xref=Rhea:RHEA:16825, ChEBI:CHEBI:15378, ChEBI:CHEBI:16704, ChEBI:CHEBI:30616, ChEBI:CHEBI:57865, ChEBI:CHEBI:456216; EC=2.7.1.48;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + cytidine = ADP + CMP + H(+); Xref=Rhea:RHEA:24674, ChEBI:CHEBI:15378, ChEBI:CHEBI:17562, ChEBI:CHEBI:30616, ChEBI:CHEBI:60377, ChEBI:CHEBI:456216; EC=2.7.1.48;.

Enzyme Numbers (IUBMB) for UCK1 Gene

Phenotypes From GWAS Catalog for UCK1 Gene

Gene Ontology (GO) - Molecular Function for UCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004849 uridine kinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IBA 21873635
GO:0016740 transferase 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UCK1

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
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 UCK1 gene
Compartment Confidence
cytosol 4
nucleus 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UCK1: view

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

Gene Ontology (GO) - Biological Process for UCK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009165 nucleotide biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
GO:0043097 pyrimidine nucleoside salvage TAS --
GO:0044206 UMP salvage IEA --
GO:0044211 CTP salvage IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytarabine Approved, Experimental, Investigational Pharma 1335
Uridine Experimental, Investigational Pharma 0
5-fluorouridine Experimental Pharma 0
Cytidine monophosphate Experimental Pharma 0
dATP Experimental Pharma Agonist, Full agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Fluorouridine monophosphate
  • 5-F-UMP
  • 5-Fluorouridine monophosphate
  • 5-Fluorouridylic acid
  • Fosfluoridine
  • Fump-5'
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
dADP
  • 2'-Deoxyadenosine-5'-diphosphate
  • Deoxyadenosine diphosphate
2793-06-8
dcdp
  • 2'-Deoxycytidine 5'-diphosphate
  • 2'-Deoxycytidine diphosphate
  • D-1beta-Ribofuranosylcytosine diphosphate
  • Deoxycytidine diphosphate
  • 2'-Deoxycytidine 5'-diphosphoric acid
800-73-7
Deoxyuridine triphosphate
  • 2'-Deoxyuridine 5'-triphosphate
  • 2'-Deoxyuridine 5'-triphosphoric acid
  • Deoxyuridine triphosphoric acid
  • 2'-Deoxyuridine-5'-triphosphorate
  • 2'-Deoxyuridine-5'-triphosphoric acid
1173-82-6
genes like me logo Genes that share compounds with UCK1: view

Transcripts for UCK1 Gene

mRNA/cDNA for UCK1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UCK1

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

Expression for UCK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for UCK1 Gene



Protein tissue co-expression partners for UCK1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UCK1

SOURCE GeneReport for Unigene cluster for UCK1 Gene:

Hs.9597

mRNA Expression by UniProt/SwissProt for UCK1 Gene:

Q9HA47-UCK1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for UCK1 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Intestine(4.3)
genes like me logo Genes that share expression patterns with UCK1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia UCK1 31
  • 100 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia UCK1 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia UCK1 30 31
  • 88.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UCK1 30 31
  • 87.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Uck1 30
  • 87.61 (n)
Mouse
(Mus musculus)
Mammalia Uck1 30 17 31
  • 86.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UCK1 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UCK1 30 31
  • 81.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UCK1 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100491950 30
  • 77.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68736 30
Zebrafish
(Danio rerio)
Actinopterygii uck1 30 31
  • 72.5 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG6364 31 32
  • 48 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea B0001.4 31 32
  • 42 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URK1 31
  • 17 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6934 31
  • 53 (a)
OneToMany
Species where no ortholog for UCK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for UCK1: view image

Paralogs for UCK1 Gene

Paralogs for UCK1 Gene

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

  • UCK1_HUMAN
  • G3V170_HUMAN
  • Q5JT09_HUMAN

Pseudogenes.org Pseudogenes for UCK1 Gene

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

Variants for UCK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UCK1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
914896 Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 131,523,800(-) G/A NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
rs886063541 Uncertain Significance: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 131,523,799(-) C/T NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for UCK1 Gene

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

Variant ID Type Subtype PubMed ID
dgv12919n54 CNV loss 21841781
dgv12920n54 CNV loss 21841781
dgv1512e214 CNV gain 21293372
esv2759718 CNV gain 17122850
esv34928 CNV gain 17911159
esv3621887 CNV loss 21293372
nsv1041661 CNV gain 25217958
nsv438114 CNV loss 16468122
nsv466603 CNV loss 19166990
nsv517936 CNV loss 19592680
nsv615563 CNV loss 21841781
nsv615565 CNV loss 21841781
nsv818728 CNV gain 17921354
nsv831741 CNV loss 17160897
nsv831742 CNV loss 17160897
nsv8574 CNV gain 18304495

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)

Additional Variant Information for UCK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UCK1

SNP Genotyping and Copy Number Assay Products

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: GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy
  • cmd due to dystroglycanopathy
- elite association - COSMIC cancer census association via MalaCards
Search UCK1 in MalaCards View complete list of genes associated with diseases
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 AR … Karlsson A (Molecular pharmacology 2001) 2 3 4 23
  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 NL … Standring DN (Antiviral research 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 GY (Journal of biomedical science 2008) 3 23
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for UCK1 Gene

Sources for UCK1 Gene