UFM1: Ubiquitin Fold Modifier 1
A key component of the UFMylation system involved in protein modification, endoplasmic reticulum homeostasis, and cellular stress responses.
Gene Information Card
| Symbol | UFM1 |
|---|---|
| Full Name | Ubiquitin Fold Modifier 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q13.3 |
| NCBI Gene ID | 51569 ncbi.nlm.nih.gov/gene/51569 |
| Ensembl ID | ENSG00000120686 |
| UniProt ID | P61960 |
| OMIM ID | 610553 |
| HGNC ID | 12597 |
| Aliases | BM-002, C13orf20, UFM1 |
Description
UFM1 (Ubiquitin Fold Modifier 1) encodes a ubiquitin-like protein that is conjugated to target proteins in a process called UFMylation. This post-translational modification is essential for endoplasmic reticulum homeostasis, ribosome function, and cellular stress responses. UFM1 is highly conserved and plays a critical role in development, hematopoiesis, and DNA damage repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypomyelinating leukodystrophy 14 (HLD14) | Biallelic loss-of-function mutations in UFM1 impair UFMylation, leading to ER stress and defective myelination. | ClinVar, OMIM #610553 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Homozygous missense variants disrupt UFM1 conjugation, affecting neuronal development. | ClinVar, PubMed |
| Breast cancer | UFM1 overexpression correlates with poor prognosis; UFMylation promotes tumor cell survival under ER stress. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Low |
| Heart | 18.3 | Low |
| Liver | 25.7 | Medium |
| Kidney | 22.1 | Medium |
| Pancreas | 15.4 | Low |
| Testis | 30.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 35.0 | High expression |
| HeLa | 28.5 | Moderate expression |
| K562 | 20.1 | Low expression |
| MCF7 | 32.4 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.274C>T (p.Arg92*) | Nonsense | Rare | Loss of function; truncation of UFM1 protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
| c.166G>A (p.Gly56Arg) | Missense | Rare | Impaired conjugation to target proteins |
| c.202C>T (p.Arg68Trp) | Missense | Rare | Reduced UFMylation activity |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, start loss) cause hypomyelinating leukodystrophy 14 (HLD14) by disrupting UFMylation.
Gain of Function (GOF)
Not reported for UFM1.
Dominant Negative (DN)
Not reported for UFM1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • SUMO transferase activity (GO:0019789) |
| • protein tag (GO:0031386) | • post-translational protein modification (GO:0043687) |
| • UFM1 conjugation pathway (GO:0071560) |
Pathways
• UFM1 conjugation pathway (R-HSA-8866654)
• ER stress response (R-HSA-381119)
• Ribosome-associated quality control (R-HSA-9759566)
Protein Summary
UFM1 is a 9.1 kDa ubiquitin-like protein that is conjugated to lysine residues of target proteins via an enzymatic cascade involving E1 (UBA5), E2 (UFC1), and E3 (UFL1) enzymes. UFMylation regulates ER homeostasis, ribosome stalling, and DNA repair. The protein is expressed in multiple tissues and is essential for embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UFM1 Knockout HEK293 Cell Line | EDJ-KQ225 | Human | 51569 | Details Get a Quote |
| UFM1 Knockout HeLa Cell Line | EDJ-KQ56329 | Human | 51569 | Details Get a Quote |
| UFM1 Knockout A-549 Cell Line | EDJ-KQ64817 | Human | 51569 | Details Get a Quote |
| UFM1 Knockout HCT 116 Cell Line | EDJ-KQ73262 | Human | 51569 | Details Get a Quote |
