NMD3
Ribosome Export Adaptor
Gene Information Card
| Symbol | NMD3 |
|---|---|
| Full Name | NMD3 ribosome export adaptor |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.1 |
| NCBI Gene ID | 51068 ncbi.nlm.nih.gov/gene/51068 |
| Ensembl ID | ENSG00000114739 |
| UniProt ID | Q96D46 |
| OMIM ID | 617677 |
| HGNC ID | 17987 |
| Aliases | FLJ10597, CGI-07 |
Description
NMD3 encodes a protein that functions as an adaptor for the export of the 60S ribosomal subunit from the nucleus to the cytoplasm. It binds to the 60S subunit and facilitates its interaction with the nuclear export machinery, playing a critical role in ribosome biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression may promote ribosome biogenesis and cell proliferation | COSMIC; multiple cancer types show NMD3 amplification/mutation |
| Developmental disorders | Potential disruption of ribosome export leading to impaired cell growth | ClinVar; rare variants reported |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.5 | Medium |
| Brain | 8.1 | Low |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.5 | Low expression |
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 effect |
| c.1420G>A (p.Glu474Lys) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted to impair ribosome export if truncating
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • ribosome export from nucleus | • nuclear export signal receptor activity |
| • cytoplasmic translation | • ribosome biogenesis |
Pathways
• Ribosome biogenesis in eukaryotes
• Nuclear export of 60S ribosomal subunit
Protein Summary
The NMD3 protein is a 503-amino acid adaptor that binds the 60S ribosomal subunit and mediates its nuclear export via the CRM1 pathway. It contains a nuclear export signal and is essential for proper ribosome assembly and cellular growth.
Related Services
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|---|---|---|---|---|
| No Data | ||||
