UFM1 Gene Summary [Human]
UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]
Details
| Type | Retained Intron |
| Official Symbol | UFM1 |
| Official Name | ubiquitin fold modifier 1 [Source:HGNC Symbol;Acc:HGNC:20597] |
| Ensembl ID | ENSG00000120686 |
| Bio databases IDs | |
| Aliases | ubiquitin fold modifier 1 |
| Synonyms | 1810045K17Rik, BM-002, C13orf20, Gm10726, HLD14, RGD1304890, ubiquitin-fold modifier 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UFM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ubl1_cv_Nsp3_N-like
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- oral squamous cell carcinoma
- organismal death
- squamous cell cancer of the oral cavity
- obesity
- hypomyelinating leukodystrophy type 14
- congenital long QT syndrome
role in cell
- expression in
- apoptosis
- cell viability
- activation in
- migration
- proliferation
- invasion by
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UFM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of protein import into nucleus
- negative regulation of apoptotic process
- regulation of intracellular estrogen receptor signaling pathway
- brain development
- protein ufmylation
- response to endoplasmic reticulum stress
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding