URM1
Description
The URM1 (ubiquitin related modifier 1) is a protein-coding gene located on chromosome 9.
URM1 is a ubiquitin-like protein (UBL) involved in the urmylation pathway in yeast. It shares structural and sequence similarities with the common ancestor of the ubiquitin superfamily. URM1 features a core β-grasp fold and a conserved carboxy terminal glycine within a di-glycine motif. It conjugates to proteins like Ahp1, ATPBD3, CTU2, and MOCS3 through a mechanism involving the E1-like protein Uba4. Similar to ubiquitination, urmylation involves a thioester intermediate and forms isopeptide bonds. URM1 plays a role in nutrient sensing and oxidative stress response. It also acts as a sulfur carrier in tRNA thiolation, receiving sulfur from Uba4 and transferring it to tRNA. URM1's homology to prokaryotic sulfur transfer proteins, ThiS and MoaD, suggests a potential evolutionary link.
URM1 is also known as C9orf74.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- hypertriglyceridemia 2
- cholesterol-ester transfer protein deficiency
- pentosuria
- thyroid hormone metabolism, abnormal, 2
- sitosterolemia
- homozygous familial hypercholesterolemia
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- hypercholesterolemia, autosomal dominant, 3
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- pancreatic triacylglycerol lipase deficiency
- hypercholesterolemia, autosomal dominant, type B
- familial apolipoprotein C-II deficiency
