UBQLN1 (Ubiquilin 1)
A key regulator of protein degradation and quality control, implicated in neurodegenerative diseases and cancer.
Gene Information Card
| Symbol | UBQLN1 |
|---|---|
| Full Name | Ubiquilin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q21.2 |
| NCBI Gene ID | 29979 ncbi.nlm.nih.gov/gene/29979 |
| Ensembl ID | ENSG00000135018 |
| UniProt ID | Q9UMX0 |
| OMIM ID | 605046 |
| HGNC ID | 12508 |
| Aliases | DA41, PLIC-1, hPLIC-1, UBQ-1 |
Description
UBQLN1 encodes ubiquilin 1, a member of the ubiquilin family that functions as a shuttle factor linking ubiquitinated proteins to the proteasome for degradation. It plays a critical role in protein quality control, autophagy, and stress response. The gene is widely expressed and has been associated with Alzheimer disease, frontotemporal dementia, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | UBQLN1 variants may alter APP processing and increase Aβ accumulation; impaired proteasomal degradation of tau | PMID: 16936731; ClinVar |
| Frontotemporal dementia | Loss of ubiquilin 1 function leads to TDP-43 aggregation and neuronal toxicity | PMID: 23063122; OMIM |
| Breast cancer | UBQLN1 overexpression correlates with poor prognosis; modulates ERα stability | PMID: 25605248; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 10.5 | Medium |
| Kidney | 14.1 | Medium |
| Testis | 18.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 16.7 | High expression |
| HeLa | 14.2 | Medium expression |
| SH-SY5Y | 19.1 | High expression |
| MCF7 | 12.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.146A>G (p.Asn49Ser) | Missense | <0.01% | Altered protein stability; reported in Alzheimer disease |
| c.1073C>T (p.Pro358Leu) | Missense | <0.01% | Reduced proteasome binding; associated with ALS |
| c.1300G>A (p.Glu434Lys) | Missense | <0.01% | Unknown functional effect; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Asn49Ser) impair ubiquilin 1 binding to ubiquitinated substrates, reducing proteasomal degradation.
Gain of Function (GOF)
Not well documented; overexpression in cancer may enhance ERα signaling.
Dominant Negative (DN)
p.Pro358Leu may interfere with wild-type ubiquilin 1 function by competing for proteasome binding.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • ubiquitin-dependent ERAD pathway (GO:0030433) |
| • protein polyubiquitination (GO:0000209) | • identical protein binding (GO:0042802) |
| • cytosol (GO:0005829) | • nucleus (GO:0005634) |
Pathways
• Proteasome-mediated ubiquitin-dependent protein catabolic process (Reactome: R-HSA-983168)
• Autophagy (KEGG: hsa04140)
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
Protein Summary
Ubiquilin 1 is a 589-amino acid protein containing an N-terminal ubiquitin-like (UBL) domain and a C-terminal ubiquitin-associated (UBA) domain. It shuttles polyubiquitinated proteins to the proteasome and also participates in autophagy by interacting with LC3. The protein is expressed in multiple tissues, with highest levels in brain and testis. Post-translational modifications include phosphorylation and ubiquitination, which regulate its stability and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBQLN1 Knockout HEK293 Cell Line | EDJ-KQ194 | Human | 29979 | Details Get a Quote |
| UBQLN1 Knockout HeLa Cell Line | EDJ-KQ23964 | Human | 29979 | Details Get a Quote |
| UBQLN1 Knockout A-549 Cell Line | EDJ-KQ25340 | Human | 29979 | Details Get a Quote |
| UBQLN1 Knockout HCT 116 Cell Line | EDJ-KQ25341 | Human | 29979 | Details Get a Quote |
| UBQLN1 Knockout Flp-In-T-REx-293 Cell Line | EDJ-KZ72 | Human | 29979 | Details Get a Quote |
