CDKAL1
Function
Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine.
Involvement in disease
Type 2 diabetes mellitus
T2D
A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the methylthiotransferase family. CDKAL1 subfamily.
Tissue Specificity
Expressed in pancreatic islets.
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass membrane protein
- Is a tail-anchored protein that exploits the TCR40 pathway for insertion into the endoplasmic reticulum.
Alternative names
Threonylcarbamoyladenosine tRNA methylthiotransferase, CDK5 regulatory subunit-associated protein 1-like 1, tRNA-t(6)A37 methylthiotransferase, CDKAL1