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    CMPK1 cytidine/uridine monophosphate kinase 1 [ Homo sapiens (human) ]

    Gene ID: 51727, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CMPK1provided by HGNC
    Official Full Name
    cytidine/uridine monophosphate kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:18170
    See related
    Ensembl:ENSG00000162368 MIM:191710; AllianceGenome:HGNC:18170
    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
    CK; CMK; UMK; CMPK; UMPK; UMP-CMPK
    Summary
    This gene encodes one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in colon (RPKM 74.1), duodenum (RPKM 71.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CMPK1 in Genome Data Viewer
    Location:
    1p33
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (47333790..47378839)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (47212232..47257303)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47799462..47844511)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47694003-47694964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47694965-47695926 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:47696119-47697092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47697093-47698066 Neighboring gene TAL bHLH transcription factor 1, erythroid differentiation factor Neighboring gene STIL centriolar assembly protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47772177-47772742 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47779829-47780558 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:47799401-47800204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47800205-47801008 Neighboring gene Sharpr-MPRA regulatory region 7712 Neighboring gene long intergenic non-protein coding RNA 1389 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47899798-47900313 Neighboring gene forkhead box E3 Neighboring gene FOXD2 adjacent opposite strand RNA 1

    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. Effect of genetic polymorphisms on therapeutic response and clinical outcomes in pancreatic cancer patients treated with gemcitabine. Woo HI, et al. Pharmacogenomics, 2012 Jul. PMID 22838950
    2. Twenty-Four Percent of Wildland Firefighters Reach Critical Levels of Serum Creatine Kinase During 80-Hour Critical Training. Christison KS, et al. Wilderness Environ Med, 2023 Sep. PMID 37258394
    3. UMP/CMPK is not the critical enzyme in the metabolism of pyrimidine ribonucleotide and activation of deoxycytidine analogs in human RKO cells. Hu R, et al. PLoS One, 2011 May 3. PMID 21559290, Free PMC Article
    4. Prognostic significance of nuclear expression of UMP-CMP kinase in triple negative breast cancer patients. Liu NQ, et al. Sci Rep, 2016 Aug 25. PMID 27558661, Free PMC Article
    5. Nucleotide binding to human UMP-CMP kinase using fluorescent derivatives -- a screening based on affinity for the UMP-CMP binding site. Topalis D, et al. FEBS J, 2007 Jul. PMID 17608725

    See all (74) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Twenty-Four Percent of Wildland Firefighters Reach Critical Levels of Serum Creatine Kinase During 80-Hour Critical Training.
      Title: Twenty-Four Percent of Wildland Firefighters Reach Critical Levels of Serum Creatine Kinase During 80-Hour Critical Training.
    2. Study found that CMPK1 is a direct target of miR-3613 which bids to its 3'UTR.
      Title: MiR-3613-3p impairs IFN-induced immune response by targeting CMPK1 in chronic hepatitis B.
    3. Nuclear CMPK1 expression is indicative of poor prognosis in the triple negative breast cancer patients.
      Title: Prognostic significance of nuclear expression of UMP-CMP kinase in triple negative breast cancer patients.
    4. TGF-b1 inhibited the expression of CMPK, which was blocked in the presence of a TGF-b type I receptor, SB431542, and was abolished by the inhibitor of miR-130b-3p, indicating that CMPK is regulated by the TGF-b signalling pathway through the upregulation of miR-130b-3p.
      Title: Cytidine monophosphate kinase is inhibited by the TGF-β signalling pathway through the upregulation of miR-130b-3p in human epithelial ovarian cancer.
    5. The role of CMP/UMP kinase (CMPK), an enzyme catalyzes cytidine diphosphate formation, in DNA repair, was investigated.
      Title: The contribution of CMP kinase to the efficiency of DNA repair.
    6. CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
      Title: CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
    7. In particular, polymorphisms of the CMPK1 gene seem to provide important prognostic information
      Title: Effect of genetic polymorphisms on therapeutic response and clinical outcomes in pancreatic cancer patients treated with gemcitabine.
    8. Single-nucleotide polymorphisms in CMPK1 gene is associated with treatment response in non-small cell lung cancer.
      Title: Differential effect of polymorphisms of CMPK1 and RRM1 on survival in advanced non-small cell lung cancer patients treated with gemcitabine or taxane/cisplatinum.
    9. UMP/CMP kinase (EC 2.7.4.14) is not critical for the phosphorylation of CMP, dCMP and maintenance of natural nucleotide pools in cells
      Title: UMP/CMPK is not the critical enzyme in the metabolism of pyrimidine ribonucleotide and activation of deoxycytidine analogs in human RKO cells.
    10. thymidylate synthase/ribonucleotide reductase gene silencing and deoxycytidine kinase::uridine monophosphate kinase fusion gene gene overexpression markedly improved gemcitabine's therapeutic activity
      Title: Gemcitabine-based chemogene therapy for pancreatic cancer using Ad-dCK::UMK GDEPT and TS/RR siRNA strategies.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    EBI GWAS Catalog

    Description
    CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables (d)CMP kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables CMP kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables UMP kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UMP kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables dCMP kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleoside diphosphate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleoside monophosphate kinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables uridine kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 'de novo' pyrimidine nucleobase biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in CDP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UDP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in UDP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in UMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleobase-containing small molecule interconversion TAS
    Traceable Author Statement
    more info
    		  
    involved_in nucleoside monophosphate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pyrimidine ribonucleotide biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    located_in extracellular exosome HDA PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    UMP-CMP kinase
    Names
    UMP/CMP kinase
    cytidine monophosphate (UMP-CMP) kinase 1, cytosolic
    cytidylate kinase
    dCMP kinase
    deoxycytidylate kinase
    nucleoside-diphosphate kinase
    uridine monophosphate kinase
    uridine monophosphate/cytidine monophosphate kinase
    NP_001129612.1
    NP_001353064.1
    NP_057392.1

    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_001136140.2 → NP_001129612.1  UMP-CMP kinase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF070416, AL513322, AL607122, DB494965
      Consensus CDS
      CCDS44135.1
      UniProtKB/TrEMBL
      A0A494BXC7
      Related
      ENSP00000398192.2, ENST00000450808.2
      Conserved Domains (2) summary
      cd01428
      Location:37 → 167
      ADK; Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for ...
      TIGR01359
      Location:37 → 176
      UMP_CMP_kin_fam; UMP-CMP kinase family

    2. NM_001366135.1 → NP_001353064.1  UMP-CMP kinase isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform c.
      Source sequence(s)
      AL513322, AL607122
      Consensus CDS
      CCDS90947.1
      UniProtKB/Swiss-Prot
      B2R6S5, B4DPU7, E9PGI8, P30085, Q53GB7, Q5SVZ0, Q96C07, Q9UBQ8, Q9UIA2
      UniProtKB/TrEMBL
      A0A8V8TMN5
      Related
      ENSP00000514114.1, ENST00000699075.1
      Conserved Domains (1) summary
      TIGR01359
      Location:5 → 193
      UMP_CMP_kin_fam; UMP-CMP kinase family

    3. NM_016308.3 → NP_057392.1  UMP-CMP kinase isoform a

      See identical proteins and their annotated locations for NP_057392.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL513322, AL607122
      Consensus CDS
      CCDS549.1
      UniProtKB/TrEMBL
      A0A8V8TMN5
      Related
      ENSP00000360939.5, ENST00000371873.10
      Conserved Domains (2) summary
      cd01428
      Location:37 → 216
      ADK; Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for ...
      TIGR01359
      Location:37 → 225
      UMP_CMP_kin_fam; UMP-CMP kinase family

    RNA

    1. NR_046394.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks 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)
      AL513322, AL607122

    2. NR_046395.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, found in variant 1.
      Source sequence(s)
      AL513322, AL607122
      Related
      ENST00000471289.2

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      47333790..47378839
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      47212232..47257303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30085.3 GenPept UniProtKB/Swiss-Prot:P30085

    Gene LinkOut

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

    Chemical Information
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