TKT
entrez
7086
canonical
uniprot
P29401
canonical
ensembl
ENSG00000163931
resolver
ensp
ENSP00000391481
resolver
ensp
ENSP00000405455
resolver
ensp
ENSP00000417773
resolver
genesymbol
HEL107
resolver
genesymbol
TKT
resolver
genesymbol_syn
TKT
resolver
hgnc
HGNC:11834
resolver
uniprot
A0A024R2Z9
resolver
uniprot
A8K089
resolver
uniprot
B4DE31
resolver
uniprot
E7EPA7
resolver
uniprot
Q8TBA3
resolver
uniprot
Q96HH3
resolver
uniprot
V9HWD9
resolver
uniprot_entry
TKT_HUMAN
resolver
uniprot_entry
V9HWD9_HUMAN
resolver
uniprot_sec
A0A024R2Z9
resolver
uniprot_sec
A8K089
resolver
uniprot_sec
B4DE31
resolver
uniprot_sec
E7EPA7
resolver
uniprot_sec
Q8TBA3
resolver
uniprot_sec
Q96HH3
resolver
activity_regulation
ACTIVITY REGULATION: In contrast to E.coli transketolase, human transketolase is not inhibited by 2'-methoxy-thiamine diphosphate. {ECO:0000269|PubMed:32839604}.
uniprot
proteins
amino_acid_sequence
MESYHKPDQQKLQALKDTANRLRISSIQATTAAGSGHPTSCCSAAEIMAVLFFHTMRYKSQDPRNPHNDRFVLSKGHAAPILYAVWAEAGFLAEAELLNLRKISSDLDGHPVPKQAFTDVATGSLGQGLGAACGMAYTGKYFDKASYRVYCLLGDGELSEGSVWEAMAFASIYKLDNLVAILDINRLGQSDPAPLQHQMDIYQKRCEAFGWHAIIVDGHSVEELCKAFGQAKHQPTAIIAKTFKGRGITGVEDKESWHGKPLPKNMAEQIIQEIYSQIQSKKKILATPPQEDAPSVDIANIRMPSLPSYKVGDKIATRKAYGQALAKLGHASDRIIALDGDTKNSTFSEIFKKEHPDRFIECYIAEQNMVSIAVGCATRNRTVPFCSTFAAFFTRAFDQIRMAAISESNINLCGSHCGVSIGEDGPSQMALEDLAMFRSVPTSTVFYPSDGVATEKAVELAANTKGICFIRTSRPENAIIYNNNEDFQVGQAKVVLKSKDDQVTVIGAGVTLHEALAAAELLKKEKINIRVLDPFTIKPLDRKLILDSARATKGRILTVEDHYYEGGIGEAVSSAVVGEPGITVTHLAVNRVPRSGKPAELLKMFGIDRDAIAQAVRGLITKA
uniprot
proteins
disease_involvement
DISEASE: Short stature, developmental delay, and congenital heart defects (SDDHD) [MIM:617044]: An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital heart defects including ventricular septal defect, atrial septal defect and patent foramen ovale. Cataract and uveitis are observed in some patients. {ECO:0000269|PubMed:27259054}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.2.1.1
uniprot
proteins
function
FUNCTION: Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate (PubMed:20667822, PubMed:27259054, PubMed:31534226). Thus, catalyzes the reversible transfer of a two-carbon ketol group from sedoheptulose-7-phosphate to glyceraldehyde-3-phosphate, producing xylulose-5-phosphate and ribose-5-phosphate (PubMed:20667822, PubMed:27259054, PubMed:31534226). The phosphate group of the substrate plays a role in stabilizing the substrate-thiamine intermediate while preventing the formation of the reactive enamine intermediate (Ref.28). Can also use fructose-6-phosphate as a ketose donor (Probable). {ECO:0000269|PubMed:20667822, ECO:0000269|PubMed:27259054, ECO:0000269|PubMed:31534226, ECO:0000269|Ref.28, ECO:0000305|PubMed:31534226}.
uniprot
proteins
mass_dalton
67878
uniprot
proteins
mutagenesis
MUTAGEN 160; /note="E->A: Reduces the catalytic efficiency by 10-fold."; /evidence="ECO:0000269|PubMed:31534226"; MUTAGEN 160; /note="E->Q: Reduces the catalytic efficiency by 5-fold."; /evidence="ECO:0000269|PubMed:31534226"; MUTAGEN 165; /note="E->Q: Reduces the catalytic efficiency by about 50-fold."; /evidence="ECO:0000269|PubMed:31534226"; MUTAGEN 366; /note="E->Q: Reduces the catalytic efficiency by about 5000-fold, probably due to the disruption of the low-barrier hydrogen bonding shown to play a role in catalysis."; /evidence="ECO:0000269|PubMed:31534226"; MUTAGEN 382; /note="T->E: Increases the catalytic activity by 1.5-fold."; /evidence="ECO:0000269|PubMed:31534226"; MUTAGEN 382; /note="T->Q: Reduces the catalytic activity by 10-fold."; /evidence="ECO:0000269|PubMed:31534226
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate degradation; pentose phosphate pathway. {ECO:0000305}.
uniprot
proteins
protein_family
Transketolase family
uniprot
proteins
pubmed
12665801
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
1567394
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20667822
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23965678
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27259054
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31534226
uniprot
proteins
pubmed
3248678
uniprot
proteins
pubmed
32839604
uniprot
proteins
pubmed
8419340
uniprot
proteins
pubmed
9115179
uniprot
proteins
sequence_length
623
uniprot
proteins