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

Gene ID: 83549, updated on 2-May-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
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Genomic context

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Location:
9q34.13
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (131523801..131531263, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (143736763..143744224, complement)
105.20220307 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. 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
  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. 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
  4. 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
  5. 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

See all (24) 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)

Genotypes

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 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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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_2023_10

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

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