PHAX: Phosphorylated Adaptor for RNA Export
A key regulator of snRNA and snoRNA nuclear export
Gene Information Card
| Symbol | PHAX |
|---|---|
| Full Name | Phosphorylated Adaptor for RNA Export |
| Gene Type | protein-coding |
| Chromosomal Location | 5q23.2 |
| NCBI Gene ID | 51808 ncbi.nlm.nih.gov/gene/51808 |
| Ensembl ID | ENSG00000145675 |
| UniProt ID | Q9H814 |
| OMIM ID | 612987 |
| HGNC ID | 16925 |
| Aliases | RNU1-70K, snRNP70, U1-70K |
Description
PHAX encodes a phosphorylated adaptor protein that mediates the nuclear export of small nuclear RNAs (snRNAs) and small nucleolar RNAs (snoRNAs). It binds to the cap-binding complex (CBC) and the export receptor CRM1, facilitating transport from the nucleus to the cytoplasm. PHAX is essential for proper RNA processing and ribosome biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney |
| HeLa | 10.5 | Cervical carcinoma |
| K562 | 8.2 | Leukemia |
| HepG2 | 7.1 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Not characterized |
| c.100C>T | missense | <0.01% | Not characterized |
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)
| • RNA export from nucleus | • snRNA export from nucleus |
| • snoRNA export from nucleus | • protein binding |
| • nucleocytoplasmic transport |
Pathways
• snRNA export
• snoRNA export
• RNA transport
Protein Summary
PHAX is a 389-amino acid protein that localizes to the nucleus and nucleolus. It contains a nuclear export signal (NES) and interacts with the cap-binding complex (CBC) and CRM1. Phosphorylation regulates its binding to RNA and export activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
