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
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. However, some modern humans also exhibit the "archaic" transketolase-like-1 allele attributed to Neanderthals, with no known effects.

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. TKTL1 also allows formation of acetyl-CoA, an important component for the synthesis of lipids and steroids.

The TKTL1-Gene was discovered by Dr. Johannes Coy and first published 1996.