The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetr... See more...

Aliases for TK1 Gene

Aliases for TK1 Gene

  • Thymidine Kinase 1 2 3 5
  • Thymidine Kinase, Cytosolic 3 4
  • Cytosolic Thymidine Kinase 2 3
  • EC 2.7.1.21 4 51
  • Epididymis Secretory Sperm Binding Protein 3
  • Thymidine Kinase 1 Soluble Isoform 3
  • Thymidine Kinase 1, Soluble 2
  • TK2 3
  • TK1 5

External Ids for TK1 Gene

Previous GeneCards Identifiers for TK1 Gene

  • GC17M075994
  • GC17M079157
  • GC17M076631
  • GC17M076767
  • GC17M073681
  • GC17M076170
  • GC17M071594

Summaries for TK1 Gene

Entrez Gene Summary for TK1 Gene

  • The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016]

GeneCards Summary for TK1 Gene

TK1 (Thymidine Kinase 1) is a Protein Coding gene. Diseases associated with TK1 include Hypochondroplasia and Thanatophoric Dysplasia, Type I. Among its related pathways are Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include identical protein binding and thymidine kinase activity.

Gene Wiki entry for TK1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TK1 Gene

Genomics for TK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TK1

Top Transcription factor binding sites by QIAGEN in the TK1 gene promoter:
  • p300
  • Sp1

Genomic Locations for TK1 Gene

Genomic Locations for TK1 Gene
chr17:78,174,079-78,187,233
(GRCh38/hg38)
Size:
13,155 bases
Orientation:
Minus strand
chr17:76,170,160-76,183,314
(GRCh37/hg19)
Size:
13,155 bases
Orientation:
Minus strand

Genomic View for TK1 Gene

Genes around TK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TK1 Gene

Proteins for TK1 Gene

  • Protein details for TK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04183-KITH_HUMAN
    Recommended name:
    Thymidine kinase, cytosolic
    Protein Accession:
    P04183
    Secondary Accessions:
    • B2RC58
    • Q969V0
    • Q9UMG9

    Protein attributes for TK1 Gene

    Size:
    234 amino acids
    Molecular mass:
    25469 Da
    Quaternary structure:
    • Homotetramer.
    Miscellaneous:
    • Two forms have been identified in animal cells, one in cytosol and one in mitochondria. Activity of the cytosolic enzyme is high in proliferating cells and peaks during the S-phase of the cell cycle; it is very low in resting cells.

    Three dimensional structures from OCA and Proteopedia for TK1 Gene

neXtProt entry for TK1 Gene

Selected DME Specific Peptides for TK1 Gene

P04183:
  • DIVEFCE
  • RGQIQVI
  • EVEVIGGADKYHSVCR
  • GIDEGQFF
  • KLTAVCM
  • KYAKDTRY
  • AALDGTFQRKPF
  • GPMFSGKSTEL

Post-translational modifications for TK1 Gene

Other Protein References for TK1 Gene

Domains & Families for TK1 Gene

Gene Families for TK1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TK1 Gene

InterPro:
Blocks:
  • Thymidine kinase
ProtoNet:

Suggested Antigen Peptide Sequences for TK1 Gene

GenScript: Design optimal peptide antigens:
  • Thymidine kinase (B5BU32_HUMAN)
  • Thymidine kinase (B5BUF9_HUMAN)
  • Thymidine kinase, cytosolic (KITH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04183

UniProtKB/Swiss-Prot:

KITH_HUMAN :
  • Belongs to the thymidine kinase family.
Family:
  • Belongs to the thymidine kinase family.
genes like me logo Genes that share domains with TK1: view

Function for TK1 Gene

Molecular function for TK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + thymidine = ADP + dTMP + H(+); Xref=Rhea:RHEA:19129, ChEBI:CHEBI:15378, ChEBI:CHEBI:17748, ChEBI:CHEBI:30616, ChEBI:CHEBI:63528, ChEBI:CHEBI:456216; EC=2.7.1.21;.
GENATLAS Biochemistry:
thymidine kinase 1,pyrimidine salvage pathway,soluble,putative up-regulated c-Myc target gene,

Enzyme Numbers (IUBMB) for TK1 Gene

Phenotypes From GWAS Catalog for TK1 Gene

Gene Ontology (GO) - Molecular Function for TK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004797 thymidine kinase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0008270 zinc ion binding IDA 17407781
genes like me logo Genes that share ontologies with TK1: view
genes like me logo Genes that share phenotypes with TK1: view

Animal Models for TK1 Gene

MGI Knock Outs for TK1:
  • Tk1 Tk1<tm1Vnd>

Animal Model Products

  • Taconic Biosciences Mouse Models for TK1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TK1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TK1 Gene

Localization for TK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TK1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TK1 gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for TK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TK1 Gene

Pathways & Interactions for TK1 Gene

genes like me logo Genes that share pathways with TK1: view

SIGNOR curated interactions for TK1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for TK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 3335503
GO:0009157 deoxyribonucleoside monophosphate biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
GO:0043097 pyrimidine nucleoside salvage TAS --
GO:0046104 thymidine metabolic process IBA 21873635
genes like me logo Genes that share ontologies with TK1: view

Drugs & Compounds for TK1 Gene

(20) Drugs for TK1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Trifluridine Approved, Investigational Pharma Enzyme, substrate 40
Zidovudine Approved Pharma Enzyme, substrate 506
Floxuridine Approved Pharma Antineoplastic antimetabolite, Inhibitor of thymidylate synthetase; anticancer agent, RNA and DNA synthesis inhibitor 56
Deoxyuridine Experimental Pharma 5
Thymidine Experimental, Investigational Pharma 0

(25) Additional Compounds for TK1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Fluorodeoxyuridine monophosphate
  • 5-fluoro-2-Deoxyuridine monophosphate (fdump)
  • 5-fluoro-2-Deoxyuridine monophosphoric acid (fdump)
  • 5-FLUORODEOXYURIDYLic acid
  • 5-fluoro-2'-Deoxyuridine-5'-monophosphate
  • 5 fluoro 2' Deoxyuridine 5' monophosphate
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with TK1: view

Transcripts for TK1 Gene

mRNA/cDNA for TK1 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TK1

Alternative Splicing Database (ASD) splice patterns (SP) for TK1 Gene

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

Relevant External Links for TK1 Gene

GeneLoc Exon Structure for
TK1

Expression for TK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TK1 Gene

This gene is overexpressed in Platelet (43.4), Stomach (14.2), and Fetal Liver (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TK1 Gene



Protein tissue co-expression partners for TK1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TK1

SOURCE GeneReport for Unigene cluster for TK1 Gene:

Hs.515122

Evidence on tissue expression from TISSUES for TK1 Gene

  • Bone marrow(2.7)
  • Pancreas(2.7)
  • Lymph node(2.6)
  • Spleen(2.5)
  • Liver(2.5)
  • Heart(2.4)
  • Lung(2.4)
  • Kidney(2.3)
  • Thyroid gland(2.1)
  • Stomach(2.1)
  • Skin(4.7)
  • Intestine(3.6)
  • Nervous system(3)
  • Blood(2.8)
genes like me logo Genes that share expression patterns with TK1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TK1 Gene

Orthologs for TK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TK1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TK1 30 31
  • 99.15 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 88 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia TK1 30 31
  • 87.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TK1 30 31
  • 87.04 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tk1 30 17 31
  • 84.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tk1 30
  • 83.91 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TK1 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TK1 30 31
  • 74.62 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TK1 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tk1 30
  • 71.64 (n)
Str.17179 30
Zebrafish
(Danio rerio)
Actinopterygii tk1 31
  • 68 (a)
OneToOne
LOC100537847 30
  • 67.11 (n)
wufi19b06 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9394 30
Worm
(Caenorhabditis elegans)
Secernentea thk-1 30 31
  • 48.99 (n)
OneToOne
Y43C5A.5 32
  • 46 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G23070 30
  • 53.1 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1817 30
Species where no ortholog for TK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TK1 Gene

ENSEMBL:
Gene Tree for TK1 (if available)
TreeFam:
Gene Tree for TK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TK1: view image

Paralogs for TK1 Gene

No data available for Paralogs for TK1 Gene

Variants for TK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TK1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
785585 Benign: not provided 78,174,870(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs386352371 Uncertain Significance: not provided 78,174,868(-) C/A MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for TK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TK1 Gene

Variant ID Type Subtype PubMed ID
nsv470607 CNV loss 18288195
nsv524306 CNV gain 19592680

Variation tolerance for TK1 Gene

Residual Variation Intolerance Score: 61.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TK1 Gene

Disorders for TK1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for TK1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypochondroplasia
  • hch
thanatophoric dysplasia, type i
  • td1
achondroplasia
  • ach
colorectal cancer 2
  • colorectal cancer, susceptibility to, 2
lung papillary adenocarcinoma
  • papillary adenocarcinoma of the lung
- elite association - COSMIC cancer census association via MalaCards
Search TK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TK1 Gene

Publications for TK1 Gene

  1. Immunohistochemical characterization of pyrimidine synthetic enzymes, thymidine kinase-1 and thymidylate synthase, in various types of cancer. (PMID: 20372850) Shintani M … Kamoshida S (Oncology reports 2010) 3 23 26
  2. Binding of ATP to TK1-like enzymes is associated with a conformational change in the quaternary structure. (PMID: 17407781) Segura-Peña D … Lavie A (Journal of molecular biology 2007) 3 4 23
  3. Structure of a type II thymidine kinase with bound dTTP. (PMID: 15733844) Birringer MS … Scapozza L (FEBS letters 2005) 3 4 23
  4. Structures of thymidine kinase 1 of human and mycoplasmic origin. (PMID: 15611477) Welin M … Eklund H (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 23
  5. Serine 13 is the site of mitotic phosphorylation of human thymidine kinase. (PMID: 9575153) Chang ZF … Chi LM (The Journal of biological chemistry 1998) 3 4 23

Products for TK1 Gene

Sources for TK1 Gene