URM1: Ubiquitin Related Modifier 1
A key sulfur carrier and post-translational modifier in tRNA thiolation and cellular stress response
Gene Information Card
| Symbol | URM1 |
|---|---|
| Full Name | Ubiquitin Related Modifier 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 81605 ncbi.nlm.nih.gov/gene/81605 |
| Ensembl ID | ENSG00000123415 |
| UniProt ID | Q9BTM9 |
| OMIM ID | 610907 |
| HGNC ID | 28349 |
| Aliases | C9orf74, MGC26694 |
Description
URM1 encodes a ubiquitin-related modifier protein that functions as a sulfur carrier in the 2-thiolation of 5-methoxycarbonylmethyl-2-thiouridine (mcm5s2U) at the wobble position of tRNA. It is also involved in cellular stress response and protein modification via a ubiquitin-like conjugation system. URM1 is highly conserved from yeast to humans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | URM1 overexpression may promote tumor growth via altered tRNA modification and protein urmylation | PMID: 25620004 |
| Colorectal cancer | URM1 upregulation associated with poor prognosis; potential role in oxidative stress response | PMID: 31073040 |
| Neurodegenerative disorders | Dysregulation of tRNA thiolation linked to neuronal stress; URM1 mutations may impair protein homeostasis | PMID: 29408999 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.3 | Medium |
| Testis | 8.7 | Low |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK293 | 11.8 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical cancer cells |
| A549 | 7.3 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation |
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Potential loss of function |
| c.307G>A (p.Gly103Ser) | Missense | <0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Start loss mutation (p.Met1?) likely abolishes protein expression; missense variants may impair sulfur carrier activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • sulfurtransferase activity (GO:0016783) |
| • tRNA wobble position uridine thiolation (GO:0002143) | • protein urmylation (GO:0032447) |
| • cytosol (GO:0005829) |
Pathways
• tRNA thiolation (KEGG: ko00970)
• Ubiquitin-like modifier conjugation (Reactome: R-HSA-8851680)
Protein Summary
URM1 is a 101-amino acid protein (11.5 kDa) that adopts a ubiquitin-like beta-grasp fold. It acts as a sulfur carrier via a C-terminal thiocarboxylate group, donating sulfur to the tRNA thiolation machinery. It also conjugates to target proteins (urmylation) under oxidative stress, modulating their function.
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