• Gene id: 8277

Gene Summary

• Gene Symbol: TKTL1   Gene   UCSC   Ensembl
• Aliases: TKR, TKT2
• Gene name: transketolase like 1
• Alternate names: transketolase-like protein 1, TK 2, transketolase-2, transketolase-related protein,
• Gene location: Xq28 (154295794: 154330349)     Exons: 13     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose pho
• OMIM: 300044

Protein Summary

• Protein general information: P51854  
  • Name: Transketolase like protein 1 (EC 2.2.1.1) (Transketolase 2) (TK 2) (Transketolase related protein)
  • Length: 596  
  • Mass: 65333
  • Tissue specificity: Expressed in fetal and adult heart, brain, lung, liver, and kidney, and in adult placenta, skeletal muscle and pancreas. Up-regulated in various epithelial tumors. {ECO
• Sequence:

  MADAEARAEFPEEARPDRGTLQVLQDMASRLRIHSIRATCSTSSGHPTSCSSSSEIMSVLFFYIMRYKQSDPENP
  DNDRFVLAKRLSFVDVATGWLGQGLGVACGMAYTGKYFDRASYRVFCLMSDGESSEGSVWEAMAFASYYSLDNLV
  AIFDVNRLGHSGALPAEHCINIYQRRCEAFGWNTYVVDGRDVEALCQVFWQASQVKHKPTAVVAKTFKGRGTPSI
  EDAESWHAKPMPRERADAIIKLIESQIQTSRNLDPQPPIEDSPEVNITDVRMTSPPDYRVGDKIATRKACGLALA
  KLGYANNRVVVLDGDTRYSTFSEIFNKEYPERFIECFMAEQNMVSVALGCASRGRTIAFASTFAAFLTRAFDHIR
  IGGLAESNINIIGSHCGVSVGDDGASQMALEDIAMFRTIPKCTIFYPTDAVSTEHAVALAANAKGMCFIRTTRPE
  TMVIYTPQERFEIGQAKVLRHCVSDKVTVIGAGITVYEALAAADELSKQDIFIRVIDLFTIKPLDVATIVSSAKA
  TEGRIITVEDHYPQGGIGEAVCAAVSMDPDIQVHSLAVSGVPQSGKSEELLDMYGISARHIIVAVKCMLLN

• Structural information:
  • Interpro: IPR029061  IPR009014  IPR005475  IPR020826  IPR033248   IPR005474  
  • Prosite: PS00802
  • STRING: ENSP00000358931
• Other Databases: GeneCards:  TKTL1  Malacards:  TKTL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030976	thiamine pyrophosphate binding	IBA	molecular function
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:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0004802	transketolase activity	TAS	molecular function
GO:0006007	glucose catabolic process	TAS	biological process
GO:0006772	thiamine metabolic process	TAS	biological process
GO:0004802	transketolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

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
Cryptorchidism	MIK: 21412036
Spermatogenic defects	MIK: 31037746
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)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray