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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CMPK1 Gene

protein-coding   GIFtS: 60
GCID: GC01P047799

Cytidine Monophosphate (UMP-CMP) Kinase 1, Cytosolic

(Previous name: cytidylate kinase)
(Previous symbol: CMPK)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytidine Monophosphate (UMP-CMP) Kinase 1, Cytosolic1 2     DCMP Kinase2 3
CMPK1 2 3 5     UMP/CMP Kinase2 3
CMK2 3 5     EC 2.7.4.143 8
UMK2 3 5     Cytidine Monophosphate Kinase1
UMPK2 3 5     UMP-CMPK2
Cytidylate Kinase1 2     Uridine Monophosphate Kinase2
UMP-CMP Kinase1 2     UCK3
Deoxycytidylate Kinase2 3     UMP/CMPK3
Uridine Monophosphate/Cytidine Monophosphate Kinase2 3     EC 2.7.48
CK2 3     

External Ids:    HGNC: 181701   Entrez Gene: 517272   Ensembl: ENSG000001623687   OMIM: 1917105   UniProtKB: P300853   

Export aliases for CMPK1 gene to outside databases

Previous GC identifers: GC01P047572 GC01P045915


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CMPK1 Gene:
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)

GeneCards Summary for CMPK1 Gene: 
CMPK1 (cytidine monophosphate (UMP-CMP) kinase 1, cytosolic) is a protein-coding gene. Diseases associated with CMPK1 include tonsillitis, and fibrosarcoma, and among its related super-pathways are pyrimidine deoxyribonucleotides de novo biosynthesis I and Metabolic pathways. GO annotations related to this gene include uridine kinase activity and UMP kinase activity. An important paralog of this gene is AK1.

UniProtKB/Swiss-Prot: KCY_HUMAN, P30085
Function: Catalyzes the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP. Plays an
important role in de novo pyrimidine nucleotide biosynthesis. Has preference for UMP and CMP as phosphate
acceptors

Gene Wiki entry for CMPK1 (CMPK) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CMPK1 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   RORalpha2   c-Rel   E2F-1   E2F   FOXC1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCMPK1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CMPK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CMPK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32   Ensembl cytogenetic band:  1p33   HGNC cytogenetic band: 1p34.1-p33

CMPK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CMPK1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P047799:  view genomic region     (about GC identifiers)

Start:
47,799,469 bp from pter      End:
47,844,511 bp from pter
Size:
45,043 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KCY_HUMAN, P30085 (See protein sequence)
Recommended Name: UMP-CMP kinase  
Size: 196 amino acids; 22222 Da
Cofactor: Binds 1 magnesium ion per monomer
Subunit: Monomer (By similarity)
Subcellular location: Nucleus. Cytoplasm. Note=Predominantly nuclear
Sequence caution: Sequence=AAF17709.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH14961.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAD96734.1;
Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAG60709.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=CAI13471.1; Type=Erroneous gene model prediction;
Sequence=CAI14972.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for CMPK1:
1TEV (3D)    
Secondary accessions: B4DPU7 E9PGI8 Q53GB7 Q5SVZ0 Q96C07 Q9UBQ8 Q9UIA2
Alternative splicing: 2 isoforms:  P30085-1   P30085-2   

Explore the universe of human proteins at neXtProt for CMPK1: NX_P30085

Explore proteomics data for CMPK1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P30085

  • 4/14 DME Specific Peptides for CMPK1 (P30085) (see all 14)
     MDGKADV  SGRSDDN  LLRDERK  SQYGELI 

    CMPK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CMPK1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001129612.1  NP_057392.1  

    ENSEMBL proteins: 
     ENSP00000360939   ENSP00000360937   ENSP00000433782   ENSP00000398192  
    Reactome Protein details: P30085
    Human Recombinant Protein Products for CMPK1: 
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    Cloud-Clone Corp. Proteins for CMPK1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm TAS10462544
    GO:0005829cytosol TAS--

    CMPK1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR000850 Adenylate_kin
     IPR006266 UMP_CMP_kinase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P30085

    ProtoNet protein and cluster: P30085

    1 Blocks protein domain: IPB000850 Adenylate kinase

    UniProtKB/Swiss-Prot: KCY_HUMAN, P30085
    Domain: Consists of three domains, a large central CORE domain and two small peripheral domains, NMPbind and LID,
    which undergo movements during catalysis. The LID domain closes over the site of phosphoryl transfer upon ATP
    binding. Assembling and dissambling the active center during each catalytic cycle provides an effective means to
    prevent ATP hydrolysis
    Similarity: Belongs to the adenylate kinase family. UMP-CMP kinase subfamily


    CMPK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCY_HUMAN, P30085
    Function: Catalyzes the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP. Plays an
    important role in de novo pyrimidine nucleotide biosynthesis. Has preference for UMP and CMP as phosphate
    acceptors
    Catalytic activity: ATP + (d)CMP = ADP + (d)CDP
    Catalytic activity: ATP + UMP = ADP + UDP

         Enzyme Numbers (IUBMB): EC 2.7.4.141 2 EC 2.7.42

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004127cytidylate kinase activity IEA--
    GO:0004550nucleoside diphosphate kinase activity IDA--
    GO:0004849uridine kinase activity TAS10462544
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
         
    CMPK1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Cmpk1 (no phenotypes)

    CMPK1 for phenotypes           About GeneDecksing

    Animal Models:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CMPK1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis (E. coli)
    UTP and CTP de novo biosynthesis0.86
    superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis0.71
    superpathway of pyrimidine ribonucleotides de novo biosynthesis0.86
    superpathway of pyrimidine deoxyribonucleoside salvage0.65
    pyrimidine deoxyribonucleotide phosphorylation0.77
    Synthesis and interconversion of nucleotide di- and triphosphates0.30
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Purine metabolism
    Metabolism of nucleotides0.42
    4Purine metabolism
    Pyrimidine metabolism0.38
    5Gemcitabine Pathway, Pharmacodynamics
    Gemcitabine Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for CMPK1
        superpathway of pyrimidine ribonucleotides de novo biosynthesis
    superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis
    superpathway of pyrimidine deoxyribonucleoside salvage
    pyrimidine deoxyribonucleotide phosphorylation
    UTP and CTP de novo biosynthesis


    3        Reactome Pathways for CMPK1
        Metabolism of nucleotides
    Synthesis and interconversion of nucleotide di- and triphosphates
    Metabolism

    2 PharmGKB Pathways for CMPK1
        Gemcitabine Pathway, Pharmacodynamics
    Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics

    2         Kegg Pathways  (Kegg details for CMPK1):
        Pyrimidine metabolism
    Metabolic pathways


    CMPK1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CMPK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/69 Interacting proteins for CMPK1 (P300852, 3 ENSP000003609394) via UniProtKB, MINT, STRING, and/or I2D (see all 69)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-3296474 I2D: score=1 STRING: ENSP00000309503
    BACE1P568173, ENSP000003185854I2D: score=2 STRING: ENSP00000318585
    EIF6P565373, ENSP000003635594I2D: score=1 STRING: ENSP00000363559
    DTYMKP239193, ENSP000003048024I2D: score=1 STRING: ENSP00000304802
    ATG5Q9H1Y03, ENSP000003433134I2D: score=1 STRING: ENSP00000343313
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process ----
    GO:0006165nucleoside diphosphate phosphorylation IDA--
    GO:0006222UMP biosynthetic process TAS10462544
    GO:0006225UDP biosynthetic process IEA--
    GO:0006227dUDP biosynthetic process IEA--

    CMPK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CMPK1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CMPK1 (KCY)

    1 HMDB Compound for CMPK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    7 DrugBank Compounds for CMPK1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GemcitabinedFdC (see all 4)95058-81-4targetinhibitor16041392 17000136 17565005 15550676
    Adenosine-5'-Diphosphate-- 20398-34-9target--17139284 17016423 10592235
    Cytidine-5'-Monophosphate-- 84-52-6target--17139284 17016423 10592235
    P1-(Adenosine-5'-P5-(Uridine-5')Pentaphosphate-- --target--17139284 17016423 10592235
    Tetrafluoroaluminate Ion-- --target--17139284 17016423 10592235
    Uridine-5'-Diphosphate-- 58-98-0target--17139284 17016423 10592235
    Lamivudine-- 134678-17-4enzymesubstrate19887088 15963349

    10/17 Novoseek inferred chemical compound relationships for CMPK1 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dcmp 93 16 15550676 (4), 10462544 (1), 18343960 (1), 19181797 (1) (see all 10)
    nucleoside monophosphate 90.4 1 12694191 (1)
    poly c 83.8 19 18343960 (3), 8586070 (1), 19876400 (1), 19765547 (1) (see all 7)
    deoxycytidine 82.5 7 10462544 (2), 11912132 (1), 19876400 (1), 19765547 (1) (see all 5)
    triphosphate 75.5 1 17101674 (1)
    cytidine 73.5 8 15130468 (3), 15280220 (1), 11494055 (1), 12876357 (1)
    ctp 70.6 2 12694191 (1), 15130468 (1)
    pyrimidine 69.3 5 15550676 (2), 19765547 (1)
    uridine 68.9 10 15130468 (2), 15280220 (1), 11494055 (1), 12876357 (1) (see all 5)
    poly u 66.5 5 10218107 (1), 16041392 (1), 17000136 (1)

    Search CenterWatch for drugs/clinical trials and news about CMPK1 / KCY

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for CMPK1 gene (2 alternative transcripts): 
    NM_001136140.1  NM_016308.2  

    Unigene Cluster for CMPK1:

    Cytidine monophosphate (UMP-CMP) kinase 1, cytosolic
    Hs.731647  [show with all ESTs]
    Unigene Representative Sequence: NM_016308
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371873(uc001cri.3 uc010omp.2 uc010omq.2) ENST00000371871
    ENST00000471289(uc001crh.2) ENST00000450808 ENST00000371870

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    Additional mRNA sequence: 

    AF070416.1 AF087865.1 AF110643.1 AF112216.1 AF259961.1 AK025258.1 AK223014.1 AK293238.1 
    AK294294.1 AK298502.1 AK312693.1 BC014961.1 BC017806.1 NR_046394.1 NR_046395.1 

    13 DOTS entries:

    DT.100828513  DT.452564  DT.100828511  DT.95264396  DT.91788542  DT.92444961  DT.100828510  DT.92444960 
    DT.97864628  DT.100828517  DT.121334466  DT.40252940  DT.40301761 

    24/395 AceView cDNA sequences (see all 395):

    N35558 BU742019 AL557940 AA312709 AI538268 F11479 AA565576 CR602827 
    CA311400 AI051412 BG939460 AI274144 AA159322 CD677668 CA429774 CB132659 
    CA425606 AA324987 AI224113 BU162773 AA227335 BU952244 BG611534 BM983900 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CMPK1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
    SP1:                          -                     
    SP2:                          -     -               
    SP3:                                                


    ECgene alternative splicing isoforms for CMPK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CMPK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGCAACAT
    CMPK1 Expression
    About this image


    See CMPK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CMPK1

    SOURCE GeneReport for Unigene cluster: Hs.731647

    UniProtKB/Swiss-Prot: KCY_HUMAN, P30085
    Tissue specificity: Ubiquitously expressed

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CMPK1 gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cmpk11 , 5 cytidine monophosphate (UMP-CMP) kinase 11, 5 90.31(n)1
    91.19(a)1
      4 (52.73 cM)5
    665881  NM_025647.31  NP_079923.31 
     1149593365 
    chicken
    (Gallus gallus)
    Aves CMPK11 cytidine monophosphate (UMP-CMP) kinase 1, cytosolic 80.78(n)
    90.31(a)
      429100  NM_001031564.1  NP_001026735.1 
    lizard
    (Anolis carolinensis)
    Reptilia CMPK16
    Uncharacterized protein
    80(a)
    1 ↔ 1
    GL343249.1(1643695-1662904)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC644742 hypothetical protein MGC64474 78.25(n)    BC045275.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.243272 Danio rerio mRNA similar to RIKEN cDNA 0610011D08 gene more 74.31(n)    BC049446.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dak11 CG6092-PA 56.14(n)
    61.05(a)
      43165  NM_143199.2  NP_651456.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F40F8.11 Protein F40F8.1 57.92(n)
    59.56(a)
      174701  NM_063985.4  NP_496386.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes URA6(YKL024C)4
    URA61
    Uridylate kinase, catalyzes the seventh enzymatic step more4
    Ura6p1
    56.05(n)1
    51.96(a)1
      11(393140-392526)4
    8538441, 4  NP_012901.31  NP_012901.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PYR61 Uridylate kinase 55.98(n)
    54.89(a)
      832710  NM_001036865.1  NP_001031942.1 
    rice
    (Oryza sativa)
    Liliopsida Os.100342 Oryza sativa UMP/CMP kinase a (ura6) mRNA, complete more 71.55(n)    AF187062.1 


    ENSEMBL Gene Tree for CMPK1 (if available)
    TreeFam Gene Tree for CMPK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CMPK1 gene
    AK12  AK52  
    3 SIMAP similar genes for CMPK1 using alignment to 3 protein entries:     KCY_HUMAN (see all proteins):
    CMPK    AK1    AK5

    CMPK1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for CMPK1
    PGOHUM00000249186 PGOHUM00000243607


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/986 SNPs in CMPK1 are shown (see all 986)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs124030471,2
    C,F,H--47797489(+) cccccA/Caaaaa 4 -- us2k10--------
    rs39250581,2
    C,F,A,H--47797623(-) cttgcT/Ctttgt 4 -- us2k130Minor allele frequency- C:0.35NS EA NA WA CSA 2778
    rs1889735681,2
    --47797731(+) ACAACA/GAAAAG 4 -- us2k10--------
    rs1818886601,2
    --47797864(+) TCTCCA/TGTTTG 4 -- us2k10--------
    rs1853301811,2
    C--47797882(+) TTACTA/TACGTC 4 -- us2k10--------
    rs1902075471,2
    --47797917(+) TAGTTC/TCTTTC 4 -- us2k10--------
    rs1824813711,2
    --47798010(+) AAAAAC/TAGGAC 4 -- us2k10--------
    rs112115171,2
    C,F,A,H--47798131(+) gcatcT/Catact 4 -- us2k126Minor allele frequency- C:0.34NS EA NA WA CSA 2358
    rs1156625201,2
    F--47798160(+) ATACCC/TCACTG 4 -- us2k11Minor allele frequency- T:0.02WA 118
    rs799441461,2
    C,F--47798171(+) CAATCT/CTTCTT 4 -- us2k11Minor allele frequency- C:0.09WA 118

    HapMap Linkage Disequilibrium report for CMPK1 (47799469 - 47844511 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CMPK1: --

    Human Gene Mutation Database (HGMD): CMPK1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 191710    OMIM disorders: --

    9 diseases for CMPK1:    About MalaCards
    tonsillitis    fibrosarcoma    tuberculosis    hepatitis c
    alzheimer's disease    pancreatic cancer    pancreatitis    lung cancer
    hepatitis


    CMPK1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for CMPK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 20 4 11494055 (1)
    pancreatic cancer 19.9 4 17000136 (4)
    tumors 0 5 17000136 (3), 8586070 (1), 15280220 (1)
    cancer 0 3 11681623 (1), 12876357 (1), 11306702 (1)


    Export disorders for CMPK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CMPK1 gene, integrated from 9 sources (see all 63):
    (articles sorted by number of sources associating them with CMPK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Phosphorylation of deoxycytidine analog monophosphates by UMP-CMP kinase: molecular characterization of the human enzyme. (PubMed id 10462544)1, 2, 3, 9 Van Rompay A.R.... Karlsson A. (1999)
    2. Phosphorylation of Cytidine, Deoxycytidine, and Their Analog Monophosphates by Human UMP/CMP Kinase Is Differentially Regulated by ATP and Magnesium. (PubMed id 15550676)1, 7, 9 Hsu C.H....Cheng Y.C. (2005)
    3. Substrate-induced conformational changes in human UMP/CMP kinase. (PubMed id 15163660)1, 2, 9 Segura-Pena D.... Lavie A. (2004)
    4. Characterization of human UMP/CMP kinase and its phosphorylation of D- and L-form deoxycytidine analogue monophosphates. (PubMed id 11912132)1, 2, 9 Liou J.-Y.... Cheng Y.-C. (2002)
    5. Characterization of human UMP-CMP kinase enzymatic activity and 5' untranslated region. (PubMed id 11681623)1, 2, 9 Pearman A.T....Stafforini D.M. (2001)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    9. Human liver protein map: update 1993. (PubMed id 8313870)1, 2 Hughes G.J.... Hochstrasser D.F. (1993)
    10. Human liver protein map: a reference database established by microsequencing and gel comparison. (PubMed id 1286669)1, 2 Hochstrasser D.F.... Hughes G.J. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51727 HGNC: 18170 AceView: UMP-CMPK Ensembl:ENSG00000162368 euGenes: HUgn51727
    ECgene: CMPK1 Kegg: 51727 H-InvDB: CMPK1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CMPK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CMPK1 gene:
    Search GeneIP for patents involving CMPK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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