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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 61
  • 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 Purine metabolism (KEGG). GO annotations related to this gene include kinase activity and dephospho-CoA kinase activity. An important paralog of this gene is MIR3658.

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

Enhancers for UCK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F131561 0.4 ENCODE 11.8 -30.9 -30867 0.9 ZNF280D TEAD1 HLF CEBPB DPF2 CEBPG TEAD3 GATA3 JUND POLR2A UCK1 LOC105376301 POMT1 RAPGEF1 ENSG00000176868 LOC642515 PIR61040
GH09F131499 0.2 ENCODE 11.5 +30.5 30532 2.2 MLX ZFP64 ARID4B SIN3A FEZF1 YY1 ZNF121 GLIS2 FOS PAF1 LOC105376301 UCK1 POMT1 ENSG00000176868 GC09M131500
GH09F131605 1.1 Ensembl ENCODE 11 -77.2 -77160 5.8 ATF1 MLX ARID4B FEZF1 DMAP1 YY1 DEK PAF1 SP5 NFYC RAPGEF1 UCK1 ENSG00000176868 POMT1 PIR59020 PIR61040
GH09F131392 0.2 ENCODE 9.2 +135.5 135484 6.7 WRNIP1 SIN3A DMAP1 YY1 FOS ZNF263 SP3 MXD4 REST SMARCB1 SETX SNORD62B POMT1 ENSG00000236986 UCK1 PRRC2B GC09M131403 PIR32430
GH09F131529 0.9 ENCODE 7 +0.5 500 2.2 HDGF ATF1 CREB3L1 ARID4B SIN3A ETS1 YY1 ZNF121 GLIS2 ELK1 POMT1 RAPGEF1 PRRC2B UCK1 LOC105376301
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around UCK1 on UCSC Golden Path with GeneCards custom track

Promoters for UCK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001316356 -25 1400 HDGF ATF1 CREB3L1 ARID4B SIN3A ETS1 YY1 ZNF121 GLIS2 ELK1

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

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 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:0004849 uridine kinase activity IBA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0019206 nucleoside kinase activity EXP 195585
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

Inhibitory RNA Products

Flow Cytometry 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

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:0006206 pyrimidine nucleobase metabolic process IBA --
GO:0008152 metabolic process IEA --
GO:0009165 nucleotide biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
GO:0043097 pyrimidine nucleoside salvage 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:

Inhibitory RNA Products

Flow Cytometry Products

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 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, PaxDb, MaxQB, and MOPED for UCK1 Gene



Protein tissue co-expression partners for UCK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UCK1 Gene:

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.
genes like me logo Genes that share expression patterns with UCK1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia UCK1 35
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UCK1 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UCK1 34 35
  • 88.97 (n)
cow
(Bos Taurus)
Mammalia UCK1 34 35
  • 87.85 (n)
rat
(Rattus norvegicus)
Mammalia Uck1 34
  • 87.61 (n)
mouse
(Mus musculus)
Mammalia Uck1 34 16 35
  • 86.76 (n)
oppossum
(Monodelphis domestica)
Mammalia UCK1 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves UCK1 34 35
  • 81.48 (n)
lizard
(Anolis carolinensis)
Reptilia UCK1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491950 34
  • 77.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68736 34
zebrafish
(Danio rerio)
Actinopterygii uck1 34 35
  • 72.5 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6364 36 35
  • 67 (a)
worm
(Caenorhabditis elegans)
Secernentea B0001.4 36 35
  • 50 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URK1 35
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6934 35
  • 53 (a)
OneToMany
Species where no ortholog for UCK1 was found in the sources mined by GeneCards:
  • 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
rs10257 -- 131,523,527(+) GTCCC(A/G)GCCCT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs1052561 -- 131,523,713(+) GAAAT(C/T)TTCCT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs10558200 -- 131,531,325(+) GGGGG(-/GGGGGC)CGCGC upstream-variant-2KB
rs10609062 -- 131,524,614(+) TGTGT(-/GTGA)GTGTG nc-transcript-variant, utr-variant-3-prime
rs10698 -- 131,524,009(+) ACCAC(G/T)CAGGA nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

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)

Relevant External Links for UCK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  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 22 64
  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 22 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64

Products for UCK1 Gene

Sources for UCK1 Gene

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