NBR1: Autophagy Receptor and Tumor Suppressor
Key regulator of selective autophagy, implicated in cancer and neurodegenerative diseases
Gene Information Card
| Symbol | NBR1 |
|---|---|
| Full Name | NBR1 autophagy cargo receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 4077 ncbi.nlm.nih.gov/gene/4077 |
| Ensembl ID | ENSG00000188536 |
| UniProt ID | Q14596 |
| OMIM ID | 191170 |
| HGNC ID | HGNC:7646 |
| Aliases | 1A1-3B, IAI3B, M17S2, NBR1 autophagy cargo receptor |
Description
NBR1 (NBR1 autophagy cargo receptor) encodes a protein that functions as a selective autophagy receptor, targeting ubiquitinated substrates for lysosomal degradation. It is involved in the degradation of protein aggregates, damaged organelles, and pathogens. NBR1 interacts with LC3 and GABARAP family proteins via its LIR motif and with ubiquitin via its UBA domain. The gene is located on chromosome 17q21.31, a region frequently altered in breast cancer. NBR1 is considered a tumor suppressor and plays roles in cell growth, apoptosis, and immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of NBR1 expression or function may promote tumorigenesis through impaired autophagy and accumulation of oncogenic substrates. | ClinVar, COSMIC |
| Neurodegenerative diseases (e.g., Alzheimer's, Parkinson's) | Defective selective autophagy leads to accumulation of toxic protein aggregates. | NCBI Gene, UniProt |
| Infectious diseases (e.g., bacterial/viral infections) | NBR1 targets intracellular pathogens for autophagic degradation (xenophagy). | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Breast | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | Embryonic kidney cells |
| HeLa | 11.8 | Cervical cancer cells |
| MCF7 | 9.2 | Breast cancer cells |
| SH-SY5Y | 16.5 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.01% | Premature truncation, loss of function |
| c.567_568insA (p.Glu190fs) | Frameshift | <0.01% | Loss of function |
| c.890G>A (p.Arg297Gln) | Missense | 0.02% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg412*, p.Glu190fs) result in truncated or unstable protein, impairing autophagy receptor function and tumor suppression.
Gain of Function (GOF)
No gain-of-function mutations reported in NBR1.
Dominant Negative (DN)
No dominant-negative mutations reported in NBR1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Selective autophagy (R-HSA-9663891)
• Autophagy (KEGG hsa04140)
• Ubiquitin-mediated proteolysis (KEGG hsa04120)
Protein Summary
The NBR1 protein (UniProt Q14596) is a 966-amino acid selective autophagy receptor. It contains an N-terminal PB1 domain, a LIR motif (LC3-interacting region), a ZZ-type zinc finger, and a C-terminal UBA domain. It binds ubiquitin and LC3/GABARAP to target ubiquitinated cargo to autophagosomes. NBR1 forms homodimers and heterodimers with p62/SQSTM1. It is involved in degradation of protein aggregates, mitochondria (mitophagy), peroxisomes (pexophagy), and pathogens (xenophagy).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NBR1 Knockout HEK293 Cell Line | EDJ-KQ2885 | Human | 4077 | Details Get a Quote |
| NBR1 Knockout A-549 Cell Line | EDJ-KQ23947 | Human | 4077 | Details Get a Quote |
| NBR1 Knockout HCT 116 Cell Line | EDJ-KQ23948 | Human | 4077 | Details Get a Quote |
| NBR1 Knockout HeLa Cell Line | EDJ-KQ23949 | Human | 4077 | Details Get a Quote |
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