TYMS
entrez
7298
canonical
uniprot
P04818
canonical
ensembl
ENSG00000176890
resolver
ensp
ENSP00000314727
resolver
ensp
ENSP00000314902
resolver
ensp
ENSP00000315644
resolver
genesymbol
TYMS
resolver
genesymbol_syn
TS
resolver
hgnc
HGNC:12441
resolver
uniprot
Q53Y97
resolver
uniprot
Q8WYK3
resolver
uniprot
Q8WYK4
resolver
uniprot_entry
Q53Y97_HUMAN
resolver
uniprot_entry
TYSY_HUMAN
resolver
uniprot_sec
Q8WYK3
resolver
uniprot_sec
Q8WYK4
resolver
amino_acid_sequence
MPVAGSELPRRPLPPAAQERDAEPRPPHGELQYLGQIQHILRCGVRKDDRTGTGTLSVFGMQARYSLRDEFPLLTTKRVFWKGVLEELLWFIKGSTNAKELSSKGVKIWDANGSRDFLDSLGFSTREEGDLGPVYGFQWRHFGAEYRDMESDYSGQGVDQLQRVIDTIKTNPDDRRIIMCAWNPRDLPLMALPPCHALCQFYVVNSELSCQLYQRSGDMGLGVPFNIASYALLTYMIAHITGLKPGDFIHTLGDAHIYLNHIEPLKIQLQREPRPFPKLRILRKVEKIDDFKAEDFQIEGYNPHPTIKMEMAV
uniprot
proteins
disease_involvement
DISEASE: Dyskeratosis congenita, digenic (DKCD) [MIM:620040]: A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCD transmission pattern is consistent with digenic inheritance. {ECO:0000269|PubMed:35931051}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. TYMS germline variants in the presence of a common ENOSF1 haplotype (defined by rs699517, rs2790 and rs1512643) result in severe thymidylate synthase deficiency and disease. The pathogenic mechanism involves increased expression of ENOSF1 relative to TYMS, and post-transcriptional inhibition of TYMS translation through ENOSF1-TYMS RNA-RNA interactions. {ECO:0000269|PubMed:35931051}.
uniprot
proteins
ec_number
2.1.1.45
uniprot
proteins
function
FUNCTION: Catalyzes the reductive methylation of 2'-deoxyuridine 5'-monophosphate (dUMP) to thymidine 5'-monophosphate (dTMP), using the cosubstrate, 5,10- methylenetetrahydrofolate (CH2H4folate) as a 1-carbon donor and reductant and contributes to the mitochondrial and nuclear de novo thymidylate biosynthesis pathway. {ECO:0000269|PubMed:11278511, ECO:0000269|PubMed:21876188, ECO:0000269|PubMed:22235121}.
uniprot
proteins
mass_dalton
35716
uniprot
proteins
pathway_participation
PATHWAY: Pyrimidine metabolism; dTTP biosynthesis. {ECO:0000305|PubMed:11278511}.
uniprot
proteins
post_translational_modification
PTM: Sumoylated by UBE2I/UBC9. {ECO:0000269|PubMed:18067453}.
uniprot
proteins
protein_family
Thymidylate synthase family
uniprot
proteins
pubmed
11278511
uniprot
proteins
pubmed
11329255
uniprot
proteins
pubmed
12706868
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16177791
uniprot
proteins
pubmed
18067453
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21876188
uniprot
proteins
pubmed
22235121
uniprot
proteins
pubmed
2243092
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
2532645
uniprot
proteins
pubmed
2656695
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
2987839
uniprot
proteins
pubmed
35931051
uniprot
proteins
pubmed
3839505
uniprot
proteins
pubmed
8845352
uniprot
proteins
sequence_length
313
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21876188, ECO:0000269|PubMed:22235121}. Cytoplasm {ECO:0000269|PubMed:21876188}. Mitochondrion {ECO:0000269|PubMed:21876188}. Mitochondrion matrix {ECO:0000269|PubMed:21876188}. Mitochondrion inner membrane {ECO:0000269|PubMed:21876188}. Note=Localized to the nucleus during S and G2/M phases of the cell cycle. As a component of the de novo thymidylate synthesis complex, localizes specifically to replication forks during DNA synthesis (PubMed:22235121). {ECO:0000269|PubMed:22235121}.
uniprot
proteins