NUB1: Negative Regulator of Ubiquitin-Like Proteins 1
A key modulator of ubiquitin-proteasome system and neddylation pathway
Gene Information Card
| Symbol | NUB1 |
|---|---|
| Full Name | Negative Regulator of Ubiquitin-Like Proteins 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 51667 ncbi.nlm.nih.gov/gene/51667 |
| Ensembl ID | ENSG00000106344 |
| UniProt ID | Q9Y5A7 |
| OMIM ID | 607981 |
| HGNC ID | 17669 |
| Aliases | BS4, NUB1L, NYREN18 |
Description
NUB1 (Negative Regulator of Ubiquitin-Like Proteins 1) encodes a protein that interacts with the ubiquitin-like protein NEDD8 and its conjugates, targeting them for proteasomal degradation. It acts as a negative regulator of the neddylation pathway and plays a role in the ubiquitin-proteasome system, influencing protein turnover and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | NUB1 downregulation may impair NEDD8 conjugate degradation, promoting tumor growth | PMID: 19074885 |
| Prostate cancer | Altered NUB1 expression linked to androgen receptor signaling and disease progression | PMID: 21712489 |
| Neurodegenerative disorders | Potential role in protein aggregation via ubiquitin-proteasome system modulation | PMID: 15590625 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical cancer cells |
| HepG2 | 7.1 | Hepatocellular carcinoma cells |
| MCF7 | 6.5 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact |
| c.1246G>A (p.Val416Met) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin-proteasome system (KEGG: hsa04120)
• Neddylation pathway (Reactome: R-HSA-8951664)
Protein Summary
The NUB1 protein is a 601-amino acid polypeptide that contains a ubiquitin-like domain and multiple ubiquitin-associated (UBA) domains. It specifically binds to NEDD8 and NEDD8-conjugated proteins, facilitating their delivery to the proteasome for degradation. This activity negatively regulates neddylation, a process critical for cullin-RING ubiquitin ligase activation. NUB1 is widely expressed, with highest levels in testis, and is implicated in cancer and neurodegenerative diseases through its role in protein homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUB1 Knockout HEK293 Cell Line | EDJ-KQ3957 | Human | 51667 | Details Get a Quote |
| NUB1 Knockout HCT 116 Cell Line | EDJ-KQ24881 | Human | 51667 | Details Get a Quote |
| NUB1 Knockout A-549 Cell Line | EDJ-KQ26225 | Human | 51667 | Details Get a Quote |
| NUB1 Knockout HeLa Cell Line | EDJ-KQ26227 | Human | 51667 | Details Get a Quote |
