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Protein

Transketolase

Gene

TKT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

Catalytic activityi

Sedoheptulose 7-phosphate + D-glyceraldehyde 3-phosphate = D-ribose 5-phosphate + D-xylulose 5-phosphate.1 Publication

Cofactori

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei37SubstrateBy similarity1
Sitei37Important for catalytic activityBy similarity1
Binding sitei40Thiamine pyrophosphate1
Binding sitei77Thiamine pyrophosphate1
Metal bindingi155Magnesium1
Binding sitei156Thiamine pyrophosphate; via amide nitrogen1
Metal bindingi185Magnesium1
Binding sitei185Thiamine pyrophosphate1
Metal bindingi187Magnesium; via carbonyl oxygen1
Binding sitei244Thiamine pyrophosphate1
Binding sitei258SubstrateBy similarity1
Binding sitei258Thiamine pyrophosphate1
Sitei258Important for catalytic activityBy similarity1
Binding sitei318SubstrateBy similarity1
Binding sitei345SubstrateBy similarity1
Active sitei366Proton donorBy similarity1
Binding sitei392Thiamine pyrophosphate1
Binding sitei416SubstrateBy similarity1
Binding sitei424SubstrateBy similarity1
Binding sitei428Thiamine pyrophosphate1
Binding sitei474SubstrateBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi123 – 125Thiamine pyrophosphate3

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionTransferase
LigandCalcium, Magnesium, Metal-binding, Thiamine pyrophosphate

Enzyme and pathway databases

BRENDAi2.2.1.1 2681
ReactomeiR-HSA-163754 Insulin effects increased synthesis of Xylulose-5-Phosphate
R-HSA-71336 Pentose phosphate pathway
SABIO-RKiP29401

Names & Taxonomyi

Protein namesi
Recommended name:
Transketolase (EC:2.2.1.11 Publication)
Short name:
TK
Gene namesi
Name:TKT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163931.15
HGNCiHGNC:11834 TKT
MIMi606781 gene
neXtProtiNX_P29401

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Short stature, developmental delay, and congenital heart defects (SDDHD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:617044
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077030318R → C in SDDHD; decreased of transketolase activity. 1 PublicationCorresponds to variant dbSNP:rs782092363EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi7086
MalaCardsiTKT
MIMi617044 phenotype
OpenTargetsiENSG00000163931
Orphaneti488618 Transketolase deficiency
PharmGKBiPA36537

Chemistry databases

ChEMBLiCHEMBL4983

Polymorphism and mutation databases

BioMutaiTKT
DMDMi1729976

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001918941 – 623TransketolaseAdd BLAST623

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei3PhosphoserineCombined sources1
Modified residuei6N6-acetyllysineCombined sources1
Modified residuei11N6-acetyllysineCombined sources1
Modified residuei104PhosphoserineCombined sources1
Modified residuei144N6-acetyllysineCombined sources1
Modified residuei204N6-acetyllysineCombined sources1
Modified residuei232N6-acetyllysineBy similarity1
Modified residuei241N6-acetyllysineCombined sources1
Modified residuei260N6-acetyllysineCombined sources1
Modified residuei275PhosphotyrosineCombined sources1
Modified residuei287PhosphothreonineCombined sources1
Modified residuei295PhosphoserineCombined sources1
Modified residuei345PhosphoserineBy similarity1
Cross-linki352Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei538N6-acetyllysineBy similarity1
Modified residuei603N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP29401
PaxDbiP29401
PeptideAtlasiP29401
PRIDEiP29401
ProteomicsDBi54568
TopDownProteomicsiP29401-1 [P29401-1]

2D gel databases

REPRODUCTION-2DPAGEiIPI00643920

PTM databases

iPTMnetiP29401
PhosphoSitePlusiP29401
SwissPalmiP29401

Expressioni

Gene expression databases

BgeeiENSG00000163931 Expressed in 239 organ(s), highest expression level in blood
CleanExiHS_TKT
ExpressionAtlasiP29401 baseline and differential
GenevisibleiP29401 HS

Organism-specific databases

HPAiHPA029480
HPA029481

Interactioni

Subunit structurei

Homodimer.

Binary interactionsi

WithEntry#Exp.IntActNotes
TERF1P542742EBI-1050560,EBI-710997

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112941, 179 interactors
IntActiP29401, 26 interactors
MINTiP29401
STRINGi9606.ENSP00000405455

Chemistry databases

BindingDBiP29401

Structurei

Secondary structure

1623
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP29401
SMRiP29401
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP29401

Family & Domainsi

Sequence similaritiesi

Belongs to the transketolase family.Curated

Phylogenomic databases

eggNOGiKOG0523 Eukaryota
COG0021 LUCA
GeneTreeiENSGT00390000005240
HOGENOMiHOG000243868
HOVERGENiHBG004036
InParanoidiP29401
KOiK00615
OMAiDCITARV
OrthoDBiEOG091G03M5
PhylomeDBiP29401
TreeFamiTF313097

Family and domain databases

Gene3Di3.40.50.920, 1 hit
InterProiView protein in InterPro
IPR029061 THDP-binding
IPR009014 Transketo_C/PFOR_II
IPR005475 Transketolase-like_Pyr-bd
IPR020826 Transketolase_BS
IPR033248 Transketolase_C
IPR005474 Transketolase_N
PfamiView protein in Pfam
PF02779 Transket_pyr, 1 hit
PF02780 Transketolase_C, 1 hit
PF00456 Transketolase_N, 1 hit
SMARTiView protein in SMART
SM00861 Transket_pyr, 1 hit
SUPFAMiSSF52518 SSF52518, 2 hits
SSF52922 SSF52922, 1 hit
PROSITEiView protein in PROSITE
PS00801 TRANSKETOLASE_1, 1 hit
PS00802 TRANSKETOLASE_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P29401-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MESYHKPDQQ KLQALKDTAN RLRISSIQAT TAAGSGHPTS CCSAAEIMAV
60 70 80 90 100
LFFHTMRYKS QDPRNPHNDR FVLSKGHAAP ILYAVWAEAG FLAEAELLNL
110 120 130 140 150
RKISSDLDGH PVPKQAFTDV ATGSLGQGLG AACGMAYTGK YFDKASYRVY
160 170 180 190 200
CLLGDGELSE GSVWEAMAFA SIYKLDNLVA ILDINRLGQS DPAPLQHQMD
210 220 230 240 250
IYQKRCEAFG WHAIIVDGHS VEELCKAFGQ AKHQPTAIIA KTFKGRGITG
260 270 280 290 300
VEDKESWHGK PLPKNMAEQI IQEIYSQIQS KKKILATPPQ EDAPSVDIAN
310 320 330 340 350
IRMPSLPSYK VGDKIATRKA YGQALAKLGH ASDRIIALDG DTKNSTFSEI
360 370 380 390 400
FKKEHPDRFI ECYIAEQNMV SIAVGCATRN RTVPFCSTFA AFFTRAFDQI
410 420 430 440 450
RMAAISESNI NLCGSHCGVS IGEDGPSQMA LEDLAMFRSV PTSTVFYPSD
460 470 480 490 500
GVATEKAVEL AANTKGICFI RTSRPENAII YNNNEDFQVG QAKVVLKSKD
510 520 530 540 550
DQVTVIGAGV TLHEALAAAE LLKKEKINIR VLDPFTIKPL DRKLILDSAR
560 570 580 590 600
ATKGRILTVE DHYYEGGIGE AVSSAVVGEP GITVTHLAVN RVPRSGKPAE
610 620
LLKMFGIDRD AIAQAVRGLI TKA
Length:623
Mass (Da):67,878
Last modified:October 1, 1996 - v3
Checksum:i176C89C02FD2712B
GO
Isoform 2 (identifier: P29401-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     146-146: S → SLPSSWDYS

Note: No experimental confirmation available.
Show »
Length:631
Mass (Da):68,814
Checksum:iE64388EFD41AB530
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0B4J1R6A0A0B4J1R6_HUMAN
Transketolase
TKT
457Annotation score:
F8W888F8W888_HUMAN
Transketolase
TKT
153Annotation score:
E9PFF2E9PFF2_HUMAN
Transketolase
TKT
334Annotation score:
F8WAX4F8WAX4_HUMAN
Transketolase
TKT
81Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti30 – 31TT → SS in CAA47919 (PubMed:8419340).Curated2
Sequence conflicti46E → V in CAA47919 (PubMed:8419340).Curated1
Sequence conflicti224 – 230LCKAFGQ → AVQGLCE AA sequence (PubMed:1567394).Curated7
Sequence conflicti366E → G in BAG56942 (PubMed:14702039).Curated1
Sequence conflicti426P → A in CAA47919 (PubMed:8419340).Curated1
Sequence conflicti585 – 587THL → KTM in AAA61222 (Ref. 2) Curated3
Sequence conflicti608 – 623DRDAI…LITKA → TGMPLHKL AA sequence (PubMed:1567394).CuratedAdd BLAST16

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052634181I → V. Corresponds to variant dbSNP:rs17052920Ensembl.1
Natural variantiVAR_077030318R → C in SDDHD; decreased of transketolase activity. 1 PublicationCorresponds to variant dbSNP:rs782092363EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045566146S → SLPSSWDYS in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X67688 mRNA Translation: CAA47919.1
L12711 mRNA Translation: AAA61222.1
U55017 mRNA Translation: AAA98961.1
AK289454 mRNA Translation: BAF82143.1
AK293438 mRNA Translation: BAG56942.1
AC097015 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW65281.1
BC008615 mRNA Translation: AAH08615.1
BC009970 mRNA Translation: AAH09970.1
BC024026 mRNA Translation: AAH24026.2
CCDSiCCDS2871.1 [P29401-1]
CCDS58834.1 [P29401-2]
PIRiA45050
RefSeqiNP_001055.1, NM_001064.3 [P29401-1]
NP_001128527.1, NM_001135055.2 [P29401-1]
NP_001244957.1, NM_001258028.1 [P29401-2]
XP_011532356.1, XM_011534054.1 [P29401-2]
UniGeneiHs.89643

Genome annotation databases

EnsembliENST00000423516; ENSP00000391481; ENSG00000163931 [P29401-2]
ENST00000423525; ENSP00000405455; ENSG00000163931 [P29401-1]
ENST00000462138; ENSP00000417773; ENSG00000163931 [P29401-1]
GeneIDi7086
KEGGihsa:7086
UCSCiuc011beq.4 human [P29401-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Transketolase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X67688 mRNA Translation: CAA47919.1
L12711 mRNA Translation: AAA61222.1
U55017 mRNA Translation: AAA98961.1
AK289454 mRNA Translation: BAF82143.1
AK293438 mRNA Translation: BAG56942.1
AC097015 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW65281.1
BC008615 mRNA Translation: AAH08615.1
BC009970 mRNA Translation: AAH09970.1
BC024026 mRNA Translation: AAH24026.2
CCDSiCCDS2871.1 [P29401-1]
CCDS58834.1 [P29401-2]
PIRiA45050
RefSeqiNP_001055.1, NM_001064.3 [P29401-1]
NP_001128527.1, NM_001135055.2 [P29401-1]
NP_001244957.1, NM_001258028.1 [P29401-2]
XP_011532356.1, XM_011534054.1 [P29401-2]
UniGeneiHs.89643

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3MOSX-ray1.75A3-618[»]
3OOYX-ray2.05A/B10-620[»]
4KXUX-ray0.98A1-623[»]
4KXVX-ray0.97A1-623[»]
4KXWX-ray0.97A1-623[»]
4KXXX-ray1.03A1-623[»]
4KXYX-ray1.26A/B1-623[»]
ProteinModelPortaliP29401
SMRiP29401
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112941, 179 interactors
IntActiP29401, 26 interactors
MINTiP29401
STRINGi9606.ENSP00000405455

Chemistry databases

BindingDBiP29401
ChEMBLiCHEMBL4983

PTM databases

iPTMnetiP29401
PhosphoSitePlusiP29401
SwissPalmiP29401

Polymorphism and mutation databases

BioMutaiTKT
DMDMi1729976

2D gel databases

REPRODUCTION-2DPAGEiIPI00643920

Proteomic databases

EPDiP29401
PaxDbiP29401
PeptideAtlasiP29401
PRIDEiP29401
ProteomicsDBi54568
TopDownProteomicsiP29401-1 [P29401-1]

Protocols and materials databases

DNASUi7086
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000423516; ENSP00000391481; ENSG00000163931 [P29401-2]
ENST00000423525; ENSP00000405455; ENSG00000163931 [P29401-1]
ENST00000462138; ENSP00000417773; ENSG00000163931 [P29401-1]
GeneIDi7086
KEGGihsa:7086
UCSCiuc011beq.4 human [P29401-1]

Organism-specific databases

CTDi7086
DisGeNETi7086
EuPathDBiHostDB:ENSG00000163931.15
GeneCardsiTKT
HGNCiHGNC:11834 TKT
HPAiHPA029480
HPA029481
MalaCardsiTKT
MIMi606781 gene
617044 phenotype
neXtProtiNX_P29401
OpenTargetsiENSG00000163931
Orphaneti488618 Transketolase deficiency
PharmGKBiPA36537
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0523 Eukaryota
COG0021 LUCA
GeneTreeiENSGT00390000005240
HOGENOMiHOG000243868
HOVERGENiHBG004036
InParanoidiP29401
KOiK00615
OMAiDCITARV
OrthoDBiEOG091G03M5
PhylomeDBiP29401
TreeFamiTF313097

Enzyme and pathway databases

BRENDAi2.2.1.1 2681
ReactomeiR-HSA-163754 Insulin effects increased synthesis of Xylulose-5-Phosphate
R-HSA-71336 Pentose phosphate pathway
SABIO-RKiP29401

Miscellaneous databases

ChiTaRSiTKT human
EvolutionaryTraceiP29401
GenomeRNAii7086
PROiPR:P29401
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163931 Expressed in 239 organ(s), highest expression level in blood
CleanExiHS_TKT
ExpressionAtlasiP29401 baseline and differential
GenevisibleiP29401 HS

Family and domain databases

Gene3Di3.40.50.920, 1 hit
InterProiView protein in InterPro
IPR029061 THDP-binding
IPR009014 Transketo_C/PFOR_II
IPR005475 Transketolase-like_Pyr-bd
IPR020826 Transketolase_BS
IPR033248 Transketolase_C
IPR005474 Transketolase_N
PfamiView protein in Pfam
PF02779 Transket_pyr, 1 hit
PF02780 Transketolase_C, 1 hit
PF00456 Transketolase_N, 1 hit
SMARTiView protein in SMART
SM00861 Transket_pyr, 1 hit
SUPFAMiSSF52518 SSF52518, 2 hits
SSF52922 SSF52922, 1 hit
PROSITEiView protein in PROSITE
PS00801 TRANSKETOLASE_1, 1 hit
PS00802 TRANSKETOLASE_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTKT_HUMAN
AccessioniPrimary (citable) accession number: P29401
Secondary accession number(s): A8K089
, B4DE31, E7EPA7, Q8TBA3, Q96HH3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: October 1, 1996
Last modified: November 7, 2018
This is version 198 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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