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    UCK1 uridine-cytidine kinase 1 [ Homo sapiens (human) ]

    Gene ID: 83549, updated on 27-Nov-2024

    Summary

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    Official Symbol
    UCK1provided by HGNC
    Official Full Name
    uridine-cytidine kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:14859
    See related
    Ensembl:ENSG00000130717 MIM:609328; AllianceGenome:HGNC:14859
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    URK1
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 13.1), ovary (RPKM 12.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UCK1 in Genome Data Viewer
    Location:
    9q34.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (131523801..131531263, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (143736763..143744224, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (134399188..134406650, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene proline rich coiled-coil 2B Neighboring gene uncharacterized LOC124902290 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:134375403-134376602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134378091-134378958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134378959-134379824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134388206-134388706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134388707-134389207 Neighboring gene uncharacterized LOC105376301 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:134403902-134405101 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134405807-134406720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20421 Neighboring gene protein O-mannosyltransferase 1 Neighboring gene NANOG hESC enhancer GRCh37_chr9:134426802-134427303 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134443475-134443974 Neighboring gene proline rich transmembrane protein 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134464737-134465236 Neighboring gene Rap guanine nucleotide exchange factor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:134481176-134481676 Neighboring gene Sharpr-MPRA regulatory region 10461 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134493979-134494945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134499860-134500360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134504170-134504919 Neighboring gene Sharpr-MPRA regulatory region 12258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134530670-134531170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134534752-134535285 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:134535286-134535818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29207 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:134558729-134559329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:134584807-134585588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134587455-134587956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134587957-134588456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:134598083-134598582 Neighboring gene RNA, 7SL, cytoplasmic 328, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human uridine-cytidine kinase phosphorylation of ribavirin: a convenient method for activation of ribavirin for conjugation to proteins. Virovic Jukic L, et al. J Biomed Sci, 2008 Mar. PMID 18080217
    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. Golitsina NL, et al. Antiviral Res, 2010 Mar. PMID 19883694
    3. Expression of nucleoside-metabolizing enzymes in myelodysplastic syndromes and modulation of response to azacitidine. Valencia A, et al. Leukemia, 2014 Mar. PMID 24192812, Free PMC Article
    4. Uridine kinase activities and pyrimidine nucleoside phosphorylation in fluoropyrimidine-sensitive and -resistant cell lines of the Novikoff hepatoma. Greenberg N, et al. Biochem J, 1977 May 15. PMID 195585, Free PMC Article
    5. Purification, activity, and expression levels of two uridine-cytidine kinase isoforms in neuroblastoma cell lines. Meinsma R, et al. Nucleosides Nucleotides Nucleic Acids, 2016 Dec. PMID 27906629

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockdown of endogenous UCK2 as well as overexpression of UCK1 resulted in decreased metabolism of uridine and cytidine and protected neuroblastoma cells from 3-deazauridine-induced toxicity. Subcellular localization studies showed that UCK1-GFP and UCK2-GFP were localized in the cell nucleus and cytosol, respectively.
      Title: The pivotal role of uridine-cytidine kinases in pyrimidine metabolism and activation of cytotoxic nucleoside analogues in neuroblastoma.
    2. Results from a study on gene expression variability markers in early-stage human embryos shows that UCK1 is a putative expression variability marker for the 3-day, 8-cell embryo stage.
      Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
    3. UCK1 and 2 are both expressed in several neuroblastoma cell lines, including four MYCN single copy cell lines and five MYCN amplified cell lines
      Title: Purification, activity, and expression levels of two uridine-cytidine kinase isoforms in neuroblastoma cell lines.
    4. ribavirin is a potential substrate of UCK-1, and RMP formed could be chemically coupled to AsOR to form a conjugate for liver specific targeting.
      Title: Human uridine-cytidine kinase phosphorylation of ribavirin: a convenient method for activation of ribavirin for conjugation to proteins.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12255

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cytidine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables uridine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in CTP salvage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in CTP salvage IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in UMP salvage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in UMP salvage IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    uridine-cytidine kinase 1
    Names
    cytidine monophosphokinase 1
    uridine monophosphokinase 1
    NP_001129426.1
    NP_001248379.1
    NP_001248380.1
    NP_001305448.1
    NP_113620.1
    XP_054219900.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001135954.3 → NP_001129426.1  uridine-cytidine kinase 1 isoform b

      See identical proteins and their annotated locations for NP_001129426.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region which results in a frameshift and an early stop codon, compared to variant 1. This variant encodes isoform b which has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS48046.1
      UniProtKB/TrEMBL
      A0A024R8E7
      Related
      ENSP00000361282.3, ENST00000372208.7
      Conserved Domains (2) summary
      COG0572
      Location:22 → 169
      Udk; Uridine kinase [Nucleotide transport and metabolism]
      cd02023
      Location:25 → 169
      UMPK; Uridine monophosphate kinase (UMPK, EC 2.7.1.48), also known as uridine kinase or uridine-cytidine kinase (UCK), catalyzes the reversible phosphoryl transfer from ATP to uridine or cytidine to yield UMP or CMP. In the primidine nucleotide-salvage pathway, ...

    2. NM_001261450.3 → NP_001248379.1  uridine-cytidine kinase 1 isoform c

      See identical proteins and their annotated locations for NP_001248379.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region, compared to variant 1, that results in a protein (isoform c) with a shorter N-terminus, compared to isoform c.
      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS59151.1
      UniProtKB/TrEMBL
      A0A0S2Z601
      Related
      ENSP00000361284.3, ENST00000372210.7
      Conserved Domains (1) summary
      cd02023
      Location:28 → 221
      UMPK; Uridine monophosphate kinase (UMPK, EC 2.7.1.48), also known as uridine kinase or uridine-cytidine kinase (UCK), catalyzes the reversible phosphoryl transfer from ATP to uridine or cytidine to yield UMP or CMP. In the primidine nucleotide-salvage pathway, ...

    3. NM_001261451.3 → NP_001248380.1  uridine-cytidine kinase 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the 5' coding region, compared to variant 1, that result in a protein (isoform d) with a longer N-terminus, compared to isoform a.
      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS59152.1
      UniProtKB/TrEMBL
      A0A0S2Z601
      Related
      ENSP00000361285.3, ENST00000372211.7
      Conserved Domains (2) summary
      COG0572
      Location:42 → 237
      Udk; Uridine kinase [Nucleotide transport and metabolism]
      cd02023
      Location:42 → 235
      UMPK; Uridine monophosphate kinase (UMPK, EC 2.7.1.48), also known as uridine kinase or uridine-cytidine kinase (UCK), catalyzes the reversible phosphoryl transfer from ATP to uridine or cytidine to yield UMP or CMP. In the primidine nucleotide-salvage pathway, ...

    4. NM_001318519.2 → NP_001305448.1  uridine-cytidine kinase 1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in an internal exon, compared to variant 1. It encodes isoform e which is shorter than isoform a.
      Source sequence(s)
      AL358781
      UniProtKB/TrEMBL
      A0A0S2Z5Y6
      Conserved Domains (2) summary
      COG0572
      Location:22 → 209
      Udk; Uridine kinase [Nucleotide transport and metabolism]
      cd02023
      Location:25 → 207
      UMPK; Uridine monophosphate kinase (UMPK, EC 2.7.1.48), also known as uridine kinase or uridine-cytidine kinase (UCK), catalyzes the reversible phosphoryl transfer from ATP to uridine or cytidine to yield UMP or CMP. In the primidine nucleotide-salvage pathway, ...

    5. NM_031432.5 → NP_113620.1  uridine-cytidine kinase 1 isoform a

      See identical proteins and their annotated locations for NP_113620.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes the isoform a.
      Source sequence(s)
      AL358781
      Consensus CDS
      CCDS6944.1
      UniProtKB/Swiss-Prot
      Q5JT09, Q5JT10, Q5JT12, Q5JT13, Q6IA74, Q96BJ0, Q9HA47
      UniProtKB/TrEMBL
      A0A0S2Z601
      Related
      ENSP00000361289.4, ENST00000372215.5
      Conserved Domains (1) summary
      cd02023
      Location:25 → 230
      UMPK; Uridine monophosphate kinase (UMPK, EC 2.7.1.48), also known as uridine kinase or uridine-cytidine kinase (UCK), catalyzes the reversible phosphoryl transfer from ATP to uridine or cytidine to yield UMP or CMP. In the primidine nucleotide-salvage pathway, ...

    RNA

    1. NR_134666.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate internal exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL358781
      Related
      ENST00000491309.5

    2. NR_134667.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL358781

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      131523801..131531263 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      143736763..143744224 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363925.1 → XP_054219900.1  uridine-cytidine kinase 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HA47.1 GenPept UniProtKB/Swiss-Prot:Q9HA47

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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