NOB1
NIN1 (RPN12) Binding Protein 1 Homolog
Gene Information Card
| Symbol | NOB1 |
|---|---|
| Full Name | NIN1 (RPN12) Binding Protein 1 Homolog |
| Gene Type | Protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 28987 ncbi.nlm.nih.gov/gene/28987 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q9ULX3 |
| OMIM ID | 609915 |
| HGNC ID | 19879 |
| Aliases | MGC2594, NOB1P, RRP12 |
Description
NOB1 (NIN1 binding protein 1) is a protein-coding gene involved in proteasome assembly and RNA processing. The encoded protein is a component of the 26S proteasome lid complex and also participates in 40S ribosomal subunit biogenesis. NOB1 is essential for cell cycle progression and has been implicated in various cancers, where its overexpression correlates with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression promotes cell proliferation and invasion | PMID: 25642764 |
| Colorectal cancer | Upregulation associated with tumor progression and metastasis | PMID: 27121310 |
| Gastric cancer | High expression linked to poor survival and chemoresistance | PMID: 28340338 |
| Prostate cancer | NOB1 knockdown reduces cell growth and induces apoptosis | PMID: 29445142 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Bone marrow | 6.7 | Low |
| Brain | 4.1 | Not detected |
| Liver | 3.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Embryonic kidney |
| HeLa | 12.8 | Cervical carcinoma |
| HepG2 | 10.1 | Hepatocellular carcinoma |
| K562 | 9.4 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Unknown |
| c.245C>T | Nonsense | 0.005% | Loss of function |
| c.678G>A | Missense | 0.02% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.245C>T) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported in NOB1.
Dominant Negative (DN)
No dominant-negative mutations reported in NOB1.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005634 (GO:0005634) | • GO:0005730 (GO:0005730) |
| • GO:0008540 (GO:0008540) | • GO:0006364 (GO:0006364) |
| • GO:0043161 (GO:0043161) |
Pathways
• Proteasome (KEGG: hsa03050)
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
Protein Summary
NOB1 is a 42 kDa protein localized to the nucleus and nucleolus. It contains a PIN domain with nuclease activity and is essential for 40S ribosomal subunit maturation. As a component of the 26S proteasome lid, NOB1 participates in ubiquitin-dependent protein degradation. Its dual role in ribosome biogenesis and proteasome function underscores its importance in cellular homeostasis.
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