UFD1
Ubiquitin Recognition Factor in ERAD and Protein Degradation
Gene Information Card
| Symbol | UFD1 |
|---|---|
| Full Name | Ubiquitin Fusion Degradation 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 7353 ncbi.nlm.nih.gov/gene/7353 |
| Ensembl ID | ENSG00000100219 |
| UniProt ID | Q92890 |
| OMIM ID | 601754 |
| HGNC ID | 12520 |
| Aliases | UFD1L, UBFD1 |
Description
UFD1 encodes a component of the ubiquitin-dependent proteolytic pathway. The protein forms a complex with NPLOC4 and VCP/p97 to recognize and extract ubiquitinated proteins from the endoplasmic reticulum for degradation via the proteasome, a process known as ER-associated degradation (ERAD). UFD1 is essential for cellular protein quality control and is implicated in development and disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 22q11.2 deletion syndrome (DiGeorge syndrome) | Haploinsufficiency of UFD1 within the deleted region contributes to the phenotype, including cardiac and craniofacial defects. | OMIM #188400; PMID: 10369804 |
| Neurodevelopmental disorders | UFD1 variants may disrupt ERAD, leading to accumulation of misfolded proteins and neuronal dysfunction. | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Brain | 6.5 | Low |
| Liver | 5.2 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Ubiquitous expression |
| HeLa | 8.9 | Ubiquitous expression |
| K562 | 7.3 | Ubiquitous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon, predicted loss of function |
| c.202C>T (p.Arg68Trp) | Missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Haploinsufficiency due to deletion or start-loss mutations is associated with 22q11.2 deletion syndrome.
Gain of Function (GOF)
No evidence of gain-of-function mutations in UFD1.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-dependent ERAD pathway | • protein ubiquitination |
| • response to unfolded protein | • ATP binding |
| • protein binding |
Pathways
• ERAD pathway (Reactome: R-HSA-983168)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
Protein Summary
UFD1 is a 307-amino acid protein that contains a ubiquitin-binding domain. It functions as a cofactor for the ATPase VCP/p97, facilitating the extraction of ubiquitinated proteins from the ER membrane. The protein is localized to the cytoplasm and nucleus and is highly conserved across eukaryotes.
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