TKTL1

TKTL1
Identifiers
AliasesTKTL1, TKR, TKT2, transketolase-like 1, transketolase like 1
External IDsOMIM: 300044; MGI: 1933244; HomoloGene: 8169; GeneCards: TKTL1; OMA:TKTL1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

8277

83553

Ensembl

ENSG00000007350

ENSMUSG00000031397

UniProt

P51854

Q99MX0

RefSeq (mRNA)

NM_012253
NM_001145933
NM_001145934

NM_031379

RefSeq (protein)

NP_001139405
NP_001139406
NP_036385

NP_113556

Location (UCSC)Chr X: 154.3 – 154.33 MbChr X: 73.22 – 73.25 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transketolase-like-1 (TKTL1) is a gene closely related to the transketolase gene (TKT). It emerged in mammals during the course of evolution and, according to the latest research findings, is considered one of the key genes that distinguishes modern humans (Homo sapiens) from Neanderthals.[5][6][7] However, some modern humans also exhibit the "archaic" transketolase-like-1 allele attributed to Neanderthals, with no known effects.[8]

The proteins formed by the two transketolase genes form a heterodimer (TKTL1-TKT). Once expressed, the TKTL1 protein displaces a TKT protein from the TKT-TKT homodimer, leading to the formation of a TKTL1-TKT heterodimer. This heterodimer is enzymatically very different from the transketolase homodimer (TKT-TKT), as the heterodimer leads to a significant increase in ribose-5-phosphate in cells.[9] TKTL1 also allows formation of acetyl-CoA,[10] an important component for the synthesis of lipids and steroids.

The TKTL1-Gene was discovered by Dr. Johannes Coy[11] and first published 1996.[5]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000007350 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031397 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Coy JF, Dübel S, Kioschis P, Thomas K, Micklem G, Delius H, et al. (March 1996). "Molecular cloning of tissue-specific transcripts of a transketolase-related gene: implications for the evolution of new vertebrate genes". Genomics. 32 (3): 309–316. doi:10.1006/geno.1996.0124. PMID 8838793.
  6. ^ "TKTL1 transketolase-like 1". Entrez Gene. U.S. National Library of Medicine.
  7. ^ Cite error: The named reference Pinson_2022 was invoked but never defined (see the help page).
  8. ^ Herai RH, Semendeferi K, Muotri AR (March 2023). "Comment on "Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals"". Science. 379 (6636): eadf0602. doi:10.1126/science.adf0602. PMID 36893252.
  9. ^ Cite error: The named reference LiY2019 was invoked but never defined (see the help page).
  10. ^ Cite error: The named reference Diaz2016 was invoked but never defined (see the help page).
  11. ^ DE19527552C2, Poustka, Annemarie Dr & Coy, Johannes, "Transketolase-related protein", issued 1999-06-24