UBAC1: Ubiquitin-Associated Domain-Containing Protein 1
A key component of the linear ubiquitin chain assembly complex (LUBAC) involved in NF-κB signaling and immune regulation.
Gene Information Card
| Symbol | UBAC1 |
|---|---|
| Full Name | Ubiquitin-Associated Domain-Containing Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 10422 ncbi.nlm.nih.gov/gene/10422 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q9BSL1 |
| OMIM ID | 609487 |
| HGNC ID | 12479 |
| Aliases | GBP, UBAC1, UBA domain containing 1 |
Description
UBAC1 encodes a protein that contains a ubiquitin-associated (UBA) domain and is a component of the linear ubiquitin chain assembly complex (LUBAC). LUBAC catalyzes the formation of linear (M1-linked) ubiquitin chains, which are critical for NF-κB activation, immune signaling, and cell survival. UBAC1 interacts with HOIP and HOIL-1 to form the functional LUBAC complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | Impaired NF-κB signaling due to LUBAC dysfunction | PMID: 25620557 |
| Inflammatory disorders | Dysregulated linear ubiquitination leading to excessive inflammation | PMID: 26997266 |
| Cancer (various) | Altered LUBAC activity affecting tumor necrosis factor (TNF) signaling and apoptosis | PMID: 29395067 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Lung | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 11.4 | Medium expression |
| Jurkat | 13.7 | High expression |
| K562 | 8.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of protein expression |
| c.256C>T (p.Arg86Trp) | Missense | <0.01% | Impaired LUBAC assembly |
| c.487_489del (p.Lys163del) | Deletion | <0.01% | Reduced ubiquitin binding |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt LUBAC complex formation or catalytic activity lead to impaired NF-κB signaling and immune deficiency.
Gain of Function (GOF)
Not well characterized; potential oncogenic role in certain cancers through sustained NF-κB activation.
Dominant Negative (DN)
Mutations that produce a truncated or misfolded protein may interfere with wild-type UBAC1 function.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin binding | • protein ubiquitination |
| • NF-κB signaling | • linear ubiquitin chain assembly |
| • immune response |
Pathways
• Linear ubiquitination pathway (LUBAC)
• NF-κB signaling
• TNF signaling
Protein Summary
UBAC1 is a 45 kDa protein containing an N-terminal UBA domain that mediates interactions with ubiquitin chains. It is essential for the structural integrity and function of LUBAC, which adds linear ubiquitin chains to substrates such as NEMO and RIPK1. This modification is crucial for activating the canonical NF-κB pathway and preventing TNF-induced cell death.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBAC1 Knockout HEK293 Cell Line | EDJ-KQ7041 | Human | 10422 | Details Get a Quote |
| UBAC1 Knockout HCT 116 Cell Line | EDJ-KQ30434 | Human | 10422 | Details Get a Quote |
| UBAC1 Knockout A-549 Cell Line | EDJ-KQ31806 | Human | 10422 | Details Get a Quote |
| UBAC1 Knockout HeLa Cell Line | EDJ-KQ31808 | Human | 10422 | Details Get a Quote |
