NEMF (Nuclear Export Mediator Factor)
A key regulator of nuclear export and ribosome quality control
Gene Information Card
| Symbol | NEMF |
|---|---|
| Full Name | Nuclear Export Mediator Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 9147 ncbi.nlm.nih.gov/gene/9147 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9H668 |
| OMIM ID | 608378 |
| HGNC ID | 16998 |
| Aliases | HBS1L, HBS1-related protein, NEMF1 |
Description
NEMF encodes a protein involved in nuclear export and ribosome quality control. It functions as a component of the ribosome-associated quality control (RQC) complex, targeting stalled ribosomes for degradation. Mutations in NEMF are associated with neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disease (e.g., spinocerebellar ataxia) | Impaired ribosome quality control leading to protein aggregation | OMIM #608378; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Heart | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney |
| SH-SY5Y | 14.3 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Impaired RQC complex assembly
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Possible in heterozygous state
View complete mutation data：
Gene Ontology (GO)
| • nuclear export | • ribosome-associated quality control |
| • protein ubiquitination |
Pathways
• Ribosome quality control
• Nuclear export pathway
Protein Summary
NEMF is a 120 kDa protein that localizes to the nucleus and cytoplasm. It binds to ribosomes and facilitates the extraction of stalled nascent chains for degradation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
