Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

TKT

contributors: npt/mct - updated : 04-07-2016

HGNC name	transketolase
HGNC id	11834

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CHDRSS congenital heart disease, mental retardation, short stature WKS Wernicke-Korsakoff syndrome
Location	3p21.1      Physical location : 53.258.723 - 53.290.130
Synonym symbol(s)	TKT1, TK, FLJ34765, HEL107, HEL-S-48
EC.number	2.2.1.1

DNA

TYPE	functioning gene
STRUCTURE	31.41 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001064 15 - 2117 NP_001055 67.9 623 - 2010 20667822 NM_001135055 15 - 2895 NP_001128527 67.9 623 - 2010 20667822 NM_001258028 15 - 2203 NP_001128528 - 540 - 2010 20667822         NP_001244957 - 631 - 2010 20667822

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic thymus         Endocrine pancreas           thyroid         Nervous brain         Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Tkt

Homologene

FAMILY

transketolase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,peroxisome
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,nucleus,nucleoplasm

basic FUNCTION	linking the pentose phosphate pathway with the glycolytic pathway
	playing an important role in brain metabolism
	may play a role in the prevention and therapy of diabetes, and cancer (Zhao 2009)
	enzyme of nonoxidative branches of the pentose phosphate pathway (PPP) (Vizán 2009)
	thiamin diphosphate (ThDP) and Ca2+ dependent enzyme that catalyzes the interketol transfer between ketoses and aldoses as part of the pentose phosphate pathway
	may play a role in cancerogenesis
	Ca(2+)-dependent enzyme that catalyzes the interketol transfer between ketoses and aldoses as part of the pentose phosphate pathway
	key enzyme of the nonoxidative pentose phosphate pathway (PPP)
	plays an important role in the proliferation of metastatic ovarian cancer cells
	is an important enzyme of the pentose phosphate pathway (PPP), necessary for NADPH synthesis and nucleic acid synthesis and cell division

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

homodimer with two active sites that locate at the interface between the contacting monomers (Zhao 2009)

INTERACTION

DNA

RNA

small molecule	cofactor,
	thiamine pyrophosphate

protein

AKT1 phosphorylation and regulation of TKT is a nodal point for amino acid control of purine synthesis

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

WKS , CHDRSS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function in cases with diabetic neuropathy constitutional       loss of function in cases with alcoholic neuropathy

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive ovary ould be used as novel therapeutic target for advanced disease

ANIMAL & CELL MODELS

TKT-null mouse embryos are not viable and disruption of one TKT allele can cause growth retardation and preferential reduction of adipose tissue (Xu 2002)