• Gene id: 7086

Gene Summary

• Gene Symbol: TKT   Gene   UCSC   Ensembl
• Aliases: HEL-S-48, HEL107, SDDHD, TK, TKT1
• Gene name: transketolase
• Alternate names: transketolase, epididymis luminal protein 107, epididymis secretory protein Li 48,
• Gene location: 3p21.1 (53256113: 53224706)     Exons: 16     NC_000003.12
• Gene summary(Entrez): This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this
• OMIM: 606781

Protein Summary

• Protein general information: P29401  
  • Name: Transketolase (TK) (EC 2.2.1.1)
  • Length: 623  
  • Mass: 67878
• Sequence:

  MESYHKPDQQKLQALKDTANRLRISSIQATTAAGSGHPTSCCSAAEIMAVLFFHTMRYKSQDPRNPHNDRFVLSK
  GHAAPILYAVWAEAGFLAEAELLNLRKISSDLDGHPVPKQAFTDVATGSLGQGLGAACGMAYTGKYFDKASYRVY
  CLLGDGELSEGSVWEAMAFASIYKLDNLVAILDINRLGQSDPAPLQHQMDIYQKRCEAFGWHAIIVDGHSVEELC
  KAFGQAKHQPTAIIAKTFKGRGITGVEDKESWHGKPLPKNMAEQIIQEIYSQIQSKKKILATPPQEDAPSVDIAN
  IRMPSLPSYKVGDKIATRKAYGQALAKLGHASDRIIALDGDTKNSTFSEIFKKEHPDRFIECYIAEQNMVSIAVG
  CATRNRTVPFCSTFAAFFTRAFDQIRMAAISESNINLCGSHCGVSIGEDGPSQMALEDLAMFRSVPTSTVFYPSD
  GVATEKAVELAANTKGICFIRTSRPENAIIYNNNEDFQVGQAKVVLKSKDDQVTVIGAGVTLHEALAAAELLKKE
  KINIRVLDPFTIKPLDRKLILDSARATKGRILTVEDHYYEGGIGEAVSSAVVGEPGITVTHLAVNRVPRSGKPAE
  LLKMFGIDRDAIAQAVRGLITKA

• Structural information:
  • Interpro: IPR029061  IPR009014  IPR005475  IPR020826  IPR033248   IPR005474  
  • Prosite: PS00801 PS00802
  • CDD: cd02012
  • PDB: 3MOS 3OOY 4KXU 4KXV 4KXW 4KXX 4KXY 6HA3 6HAD 6RJB
  • PDBsum: 3MOS 3OOY 4KXU 4KXV 4KXW 4KXX 4KXY 6HA3 6HAD 6RJB
  • STRING: ENSP00000391481
• Other Databases: GeneCards:  TKT  Malacards:  TKT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046390	ribose phosphate biosynthetic process	IBA	biological process
GO:0030976	thiamine pyrophosphate binding	IBA	molecular function
GO:0009052	pentose-phosphate shunt, non-oxidative branch	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0004802	transketolase activity	IBA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0004802	transketolase activity	IEA	molecular function
GO:0005999	xylulose biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006098	pentose-phosphate shunt	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004802	transketolase activity	IEA	molecular function
GO:0040008	regulation of growth	IEA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0004802	transketolase activity	IDA	molecular function
GO:0004802	transketolase activity	IDA	molecular function
GO:0004802	transketolase activity	IDA	molecular function
GO:0006098	pentose-phosphate shunt	IDA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0046166	glyceraldehyde-3-phosphate biosynthetic process	IDA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0004802	transketolase activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0031982	vesicle	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005777	peroxisome	ISS	cellular component
GO:0009052	pentose-phosphate shunt, non-oxidative branch	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00030	Pentose phosphate pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq