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DTYMK deoxythymidylate kinase [ Homo sapiens (human) ]

Gene ID: 1841, updated on 27-Nov-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, Nov 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 9.1), lymph node (RPKM 8.0) and 25 other tissues See more
Orthologs
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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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