DTYMK
entrez
1841
canonical
uniprot
P23919
canonical
ensembl
ENSG00000168393
resolver
ensp
ENSP00000304802
resolver
ensp
ENSP00000408939
resolver
ensp
ENSP00000528696
resolver
ensp
ENSP00000528698
resolver
ensp
ENSP00000668271
resolver
genesymbol
DTYMK
resolver
genesymbol_syn
CDC8
resolver
genesymbol_syn
TMPK
resolver
genesymbol_syn
TYMK
resolver
hgnc
HGNC:3061
resolver
uniprot
B7ZW70
resolver
uniprot
Q53F55
resolver
uniprot
Q6FGU2
resolver
uniprot
Q6FGX1
resolver
uniprot
Q9BUX4
resolver
uniprot_entry
KTHY_HUMAN
resolver
uniprot_entry
Q53F55_HUMAN
resolver
uniprot_entry
Q6FGU2_HUMAN
resolver
uniprot_sec
B7ZW70
resolver
uniprot_sec
Q6FGX1
resolver
uniprot_sec
Q9BUX4
resolver
amino_acid_sequence
MAARRGALIVLEGVDRAGKSTQSRKLVEALCAAGHRAELLRFPERSTEIGKLLSSYLQKKSDVEDHSVHLLFSANRWEQVPLIKEKLSQGVTLVVDRYAFSGVAFTGAKENFSLDWCKQPDVGLPKPDLVLFLQLQLADAAKRGAFGHERYENGAFQERALRCFHQLMKDTTLNWKMVDASKSIEAVHEDIRVLSEDAIRTATEKPLGELWK
uniprot
proteins
disease_involvement
DISEASE: Neurodegeneration, childhood-onset, with progressive microcephaly (CONPM) [MIM:619847]: An autosomal recessive disorder characterized by global developmental delay apparent from infancy. Most severely affected individuals have severe and progressive microcephaly, early-onset seizures, lack of visual tracking, and almost no developmental milestones, resulting in early death. Less severely affected individuals have a small head circumference and severely impaired intellectual development with poor speech and motor delay. Additional features may include poor overall growth, axial hypotonia, limb hypertonia with spasticity, undescended testes, and cerebral atrophy with neuronal loss. {ECO:0000269|PubMed:31271740, ECO:0000269|PubMed:34918187}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.4.9
uniprot
proteins
function
FUNCTION: Catalyzes the phosphorylation of thymidine monophosphate (dTMP) to thymidine diphosphate (dTDP), the immediate precursor for the DNA building block dTTP, with ATP as the preferred phosphoryl donor in the presence of Mg(2+). {ECO:0000269|PubMed:12614151, ECO:0000269|PubMed:2017365, ECO:0000269|PubMed:34918187, ECO:0000269|PubMed:8024690, ECO:0000305|PubMed:18469}.
uniprot
proteins
mass_dalton
23819
uniprot
proteins
pathway_participation
PATHWAY: Pyrimidine metabolism; dTTP biosynthesis. {ECO:0000269|PubMed:18469}.
uniprot
proteins
protein_family
Thymidylate kinase family
uniprot
proteins
pubmed
12614151
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18469
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
2017365
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31271740
uniprot
proteins
pubmed
34918187
uniprot
proteins
pubmed
8024690
uniprot
proteins
sequence_length
212
uniprot
proteins