CDKAL1

CDKAL1 (CDK5 Regulatory Subunit Associated Protein 1 Like 1) is a Protein Coding gene. Diseases associated with CDKAL1 include Diabetes Mellitus, Noninsulin-Dependent and Sapho Syndrome. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include transferase activity and iron-sulfur cluster binding. An important paralog of this gene is CDK5RAP1.

Full Name

CDK5 Regulatory Subunit Associated Protein 1 Like 1

Function

Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t6A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms2t6A) at position 37 in tRNAs that read codons beginning with adenine.

Biological Process

Maintenance of translational fidelity Source: Ensembl
tRNA methylthiolation Source: GO_Central
tRNA modification Source: Reactome

Cellular Location

Endoplasmic reticulum membrane. Is a tail-anchored protein that exploits the TCR40 pathway for insertion into the endoplasmic reticulum.

Involvement in disease

Diabetes mellitus, non-insulin-dependent (NIDDM): A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own 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.

Topology

Helical: 556-578