Gene Gene information from NCBI Gene database.
Entrez ID 7083
Gene name Thymidine kinase 1
Gene symbol TK1
Synonyms (NCBI Gene)
TK2
Chromosome 17
Chromosome location 17q25.3
Summary 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 encod
miRNA miRNA information provided by mirtarbase database.
316
miRTarBase ID miRNA Experiments Reference
MIRT016357 hsa-miR-193b-3p Microarray 20304954
MIRT029423 hsa-miR-26b-5p Microarray 19088304
MIRT048356 hsa-miR-103a-3p CLASH 23622248
MIRT038616 hsa-miR-186-3p CLASH 23622248
MIRT723919 hsa-miR-4639-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
MYB Activation 1944282
POU2AF1 Activation 15831936
POU2F1 Activation 15831936
POU2F2 Activation 15831936
SP1 Activation 10502302
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004797 Function Thymidine kinase activity IBA
GO:0004797 Function Thymidine kinase activity IDA 14697231, 22385435
GO:0004797 Function Thymidine kinase activity IEA
GO:0004797 Function Thymidine kinase activity TAS 3335503
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
188300 11830 ENSG00000167900
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04183
Protein name Thymidine kinase, cytosolic (EC 2.7.1.21)
Protein function Cell-cycle-regulated enzyme of importance in nucleotide metabolism (PubMed:9575153). Catalyzes the first enzymatic step in the salvage pathway converting thymidine into thymidine monophosphate (PubMed:22385435). Transcriptional regulation limits
PDB 1W4R , 1XBT , 2ORV , 2WVJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00265 TK 19 189 Thymidine kinase Family
Sequence
Sequence length 234
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pyrimidine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism
  Pyrimidine salvage
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15809747
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CTD_human_DG 27602772
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31589613
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 29266545
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 31741324
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 20716805
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood coagulation disorder Pubtator 40629026 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 8527482
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23966579, 30520339, 31601121
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 12699056, 27527857, 28349820, 29162134, 38033034 Associate
★☆☆☆☆
Found in Text Mining only