UFC1 Gene (Ubiquitin-Fold Modifier Conjugating Enzyme 1)
UFC1: A key E2-like enzyme in the UFM1 conjugation system involved in protein modification and cellular stress responses.
Gene Information Card
| Symbol | UFC1 |
|---|---|
| Full Name | Ubiquitin-Fold Modifier Conjugating Enzyme 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 51506 ncbi.nlm.nih.gov/gene/51506 |
| Ensembl ID | ENSG00000143222 |
| UniProt ID | Q9Y3C8 |
| OMIM ID | 610553 |
| HGNC ID | 26964 |
| Aliases | HSPC155, CGI-126, dJ116I8.1 |
Description
UFC1 (Ubiquitin-Fold Modifier Conjugating Enzyme 1) encodes an E2-like enzyme that specifically conjugates UFM1 (ubiquitin-fold modifier 1) to target proteins. UFC1 accepts UFM1 from the E1-like enzyme UBA5 and transfers it to the E3 ligase UFL1, playing a critical role in the UFM1ylation pathway. This modification is involved in endoplasmic reticulum stress response, hematopoiesis, and cell differentiation. UFC1 is widely expressed and its dysregulation is linked to cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | UFC1 overexpression may promote tumor growth via UFM1ylation of ER stress regulators | COSMIC; PMID: 25636840 |
| Hepatocellular carcinoma | UFC1 upregulation correlates with poor prognosis and altered UFM1 conjugation | COSMIC; PMID: 32393953 |
| Developmental delay with hypotonia | Biallelic UFC1 variants impair UFM1ylation, leading to neurodevelopmental defects | ClinVar; PMID: 31585110 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 18.7 | High |
| Pancreas | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.3 | High expression |
| HeLa | 11.8 | Medium expression |
| K562 | 9.5 | Medium expression |
| HepG2 | 16.1 | High expression |
| A549 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.208C>T (p.Arg70Trp) | Missense | <0.01% | Impaired UFM1 binding |
| c.340G>A (p.Glu114Lys) | Missense | <0.01% | Reduced conjugation activity |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg70Trp) impair UFM1 binding and conjugation, leading to reduced UFM1ylation.
Gain of Function (GOF)
No gain-of-function mutations reported in UFC1.
Dominant Negative (DN)
No dominant-negative mutations reported in UFC1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• UFM1 conjugation pathway (R-HSA-8866654)
• ER stress response (R-HSA-381119)
Protein Summary
UFC1 is a 167-amino acid protein (18.9 kDa) that functions as an E2-like conjugating enzyme in the UFM1ylation cascade. It contains a conserved UBC domain that binds UFM1 via a catalytic cysteine (Cys116). UFC1 interacts with UBA5 (E1) and UFL1 (E3) to modify target proteins such as DDRGK1 and ASC1. The protein is predominantly cytoplasmic and is involved in maintaining ER homeostasis and cellular stress adaptation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UFC1 Knockout HEK293 Cell Line | EDJ-KQ11120 | Human | 51506 | Details Get a Quote |
| UFC1 Knockout HCT 116 Cell Line | EDJ-KQ39100 | Human | 51506 | Details Get a Quote |
| UFC1 Knockout HeLa Cell Line | EDJ-KQ39101 | Human | 51506 | Details Get a Quote |
| UFC1 Knockout A-549 Cell Line | EDJ-KQ37787 | Human | 51506 | Details Get a Quote |
