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    DTYMK deoxythymidylate kinase [ Homo sapiens (human) ]

    Gene ID: 1841, updated on 9-Dec-2024

    Summary

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    Official Symbol
    DTYMKprovided by HGNC
    Official Full Name
    deoxythymidylate kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:3061
    See related
    Ensembl:ENSG00000168393 MIM:188345; AllianceGenome:HGNC:3061
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDC8; TMPK; TYMK; CONPM; PP3731
    Summary
    Enables ATP binding activity and thymidylate kinase activity. Involved in dTDP biosynthetic process and thymidine biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 9.1), lymph node (RPKM 8.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DTYMK in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (241675747..241686815, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (242179081..242190147, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (242615162..242626230, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242529014-242529910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242529911-242530805 Neighboring gene RNA, 5S ribosomal pseudogene 122 Neighboring gene THAP domain containing 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_58008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242548955-242549456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242549457-242549957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242550174-242550694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242554967-242555773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12547 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12548 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12549 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:242576729-242577656 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242578056-242578589 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242584167-242584667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242584739-242585240 Neighboring gene autophagy related 4B cysteine peptidase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242596891-242597666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242600039-242600540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242600541-242601040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242604899-242605504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242607599-242608100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242608101-242608600 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12553 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:242626177-242626439 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:242640872-242641704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242641943-242642572 Neighboring gene inhibitor of growth family member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12557 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17431 Neighboring gene D-2-hydroxyglutarate dehydrogenase Neighboring gene MPRA-validated peak4107 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:242703699-242704312

    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. Phosphorylation of nucleosides and nucleoside analogs by mammalian nucleoside monophosphate kinases. Van Rompay AR, et al. Pharmacol Ther, 2000 Aug-Sep. PMID 11008000
    2. Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome. Lam CW, et al. Clin Chim Acta, 2019 Sep. PMID 31271740
    3. Insights into product release dynamics through structural analyses of thymidylate kinase. Chaudhary SK, et al. Int J Biol Macromol, 2019 Feb 15. PMID 30447376
    4. The evolving landscape of involvement of DTYMK enzymes in cancer. Heydari N, et al. Med Oncol, 2023 Jun 26. PMID 37358701
    5. Structures of human thymidylate kinase in complex with prodrugs: implications for the structure-based design of novel compounds. Ostermann N, et al. Biochemistry, 2003 Mar 11. PMID 12614151

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The evolving landscape of involvement of DTYMK enzymes in cancer.
      Title: The evolving landscape of involvement of DTYMK enzymes in cancer.
    2. DTYMK is essential for genome integrity and neuronal survival.
      Title: DTYMK is essential for genome integrity and neuronal survival.
    3. Genetic effects on planum temporale asymmetry and their limited relevance to neurodevelopmental disorders, intelligence or educational attainment.
      Title: Genetic effects on planum temporale asymmetry and their limited relevance to neurodevelopmental disorders, intelligence or educational attainment.
    4. DTYMK is a novel gene for mitochondrial DNA depletion syndrome
      Title: Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome.
    5. these findings suggest that Tip60-ATM signaling has a functional contribution to the recruitment of TMPK to DNA damage sites, thereby increasing local dTTP synthesis for DNA repair.
      Title: Thymidylate kinase is critical for DNA repair via ATM-dependent Tip60 complex formation.
    6. The RAMD simulations on product-bound structures of both ttTMPK and hTMPK, revealed that while several exit patterns of the products are permissible, the sequential exit mode is the most preferred pattern for both ttTMPK and hTMPK enzymes. Additionally, the product release from the hTMPK was found to be faster and more directional as compared to ttTMPK
      Title: Insights into product release dynamics through structural analyses of thymidylate kinase.
    7. Lentiviral delivery of small hairpin RNA targeting TMPK in combination with a low dose of doxorubicin as a new approach to kill colon cancer cells regardless of p53 status.
      Title: Synthetic lethality by lentiviral short hairpin RNA silencing of thymidylate kinase and doxorubicin in colon cancer cells regardless of the p53 status.
    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

    Associated conditions

    Description Tests
    Neurodegeneration, childhood-onset, with progressive microcephaly
    MedGen: C5676972 OMIM: 619847 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    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

    Clone Names

    • FLJ44192, MGC198617

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleoside diphosphate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables thymidylate kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables thymidylate kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dTDP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dTDP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in dTTP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dTTP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dUDP biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in myoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleoside monophosphate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thymidine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in thymidine 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 mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    thymidylate kinase
    Names
    dTMP kinase
    deoxythymidylate kinase (thymidylate kinase)
    NP_001158503.1
    NP_001307831.1
    NP_001307832.1
    NP_001307833.1
    NP_001307834.1
    NP_036277.2

    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_001165031.2 → NP_001158503.1  thymidylate kinase isoform 2

      See identical proteins and their annotated locations for NP_001158503.1

      Status: VALIDATED

      Source sequence(s)
      AA446104, AK223434, BC171902
      UniProtKB/TrEMBL
      Q53F55
      Conserved Domains (2) summary
      PLN02924
      Location:2 → 187
      PLN02924; thymidylate kinase
      pfam02223
      Location:11 → 167
      Thymidylate_kin; Thymidylate kinase

    2. NM_001320902.2 → NP_001307831.1  thymidylate kinase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AA446104, AK223434, CN356277, CX166352
      UniProtKB/TrEMBL
      H7C312
      Conserved Domains (2) summary
      PLN02924
      Location:2 → 168
      PLN02924; thymidylate kinase
      pfam02223
      Location:11 → 148
      Thymidylate_kin; Thymidylate kinase

    3. NM_001320903.2 → NP_001307832.1  thymidylate kinase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AA446104, AK223434, BC171902, CX166352
      UniProtKB/Swiss-Prot
      P23919
      UniProtKB/TrEMBL
      Q53F55
      Conserved Domains (1) summary
      cl17190
      Location:2 → 78
      NK; Nucleoside/nucleotide kinase (NK) is a protein superfamily consisting of multiple families of enzymes that share structural similarity and are functionally related to the catalysis of the reversible phosphate group transfer from nucleoside triphosphates ...

    4. NM_001320904.2 → NP_001307833.1  thymidylate kinase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AA427388, AA446104, AK223434, CX166352
      UniProtKB/TrEMBL
      Q53F55
      Related
      ENSP00000408939.1, ENST00000445261.5
      Conserved Domains (2) summary
      PLN02924
      Location:2 → 192
      PLN02924; thymidylate kinase
      pfam02223
      Location:11 → 172
      Thymidylate_kin; Thymidylate kinase

    5. NM_001320905.2 → NP_001307834.1  thymidylate kinase isoform 6

      Status: VALIDATED

      Source sequence(s)
      AA446104, AC133528, AK223434, BF951595, CX166352
      UniProtKB/TrEMBL
      Q53F55
      Conserved Domains (3) summary
      PLN02924
      Location:2 → 250
      PLN02924; thymidylate kinase
      pfam02223
      Location:11 → 230
      Thymidylate_kin; Thymidylate kinase
      pfam13900
      Location:84 → 119
      GVQW; Putative domain of unknown function

    6. NM_012145.4 → NP_036277.2  thymidylate kinase isoform 1

      See identical proteins and their annotated locations for NP_036277.2

      Status: VALIDATED

      Source sequence(s)
      AA446104, BC147006
      Consensus CDS
      CCDS2552.1
      UniProtKB/Swiss-Prot
      B7ZW70, P23919, Q6FGX1, Q9BUX4
      UniProtKB/TrEMBL
      Q53F55, Q6FGU2
      Related
      ENSP00000304802.2, ENST00000305784.7
      Conserved Domains (1) summary
      PLN02924
      Location:2 → 211
      PLN02924; thymidylate kinase

    RNA

    1. NR_033255.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) 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)
      AW273041, BC171903, BQ021114
      Related
      ENST00000400770.6

    2. NR_135492.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) 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)
      AA446104, AK223434, CN356277, CX166352

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      241675747..241686815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      242179081..242190147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23919.4 GenPept UniProtKB/Swiss-Prot:P23919

    Gene LinkOut

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