RAE1: Ribonucleic Acid Export 1, a Key Mitotic Regulator and mRNA Export Factor
Essential gene involved in cell cycle progression, mRNA export, and implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | RAE1 |
|---|---|
| Full Name | ribonucleic acid export 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q13.31 |
| NCBI Gene ID | 8480 ncbi.nlm.nih.gov/gene/8480 |
| Ensembl ID | ENSG00000101146 |
| UniProt ID | P78406 |
| OMIM ID | 603371 |
| HGNC ID | 9828 |
| Aliases | MIG14, MRNP41, dJ481F12.3, FLJ10297 |
Description
RAE1 (ribonucleic acid export 1) encodes a protein involved in nucleocytoplasmic transport of mRNA and mitotic spindle assembly. The protein localizes to the nuclear rim and interacts with the nuclear pore complex. During mitosis, RAE1 associates with the spindle apparatus and is required for proper chromosome segregation. It is a homolog of yeast Rae1p and functions as a key regulator of cell cycle progression. Mutations and dysregulation of RAE1 have been linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression of RAE1 promotes chromosomal instability and tumorigenesis by disrupting mitotic checkpoint control. | PMID: 21930798; COSMIC |
| Breast Cancer | RAE1 amplification and overexpression correlate with poor prognosis and aneuploidy. | PMID: 23382219; COSMIC |
| Developmental Delay / Intellectual Disability | De novo missense variants in RAE1 identified in patients with neurodevelopmental phenotypes. | ClinVar; PMID: 28135719 |
| Lung Cancer | RAE1 upregulation associated with increased cell proliferation and migration. | COSMIC; PMID: 25605242 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone Marrow | 22.3 | High |
| Lymph Node | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.2 | Cervical carcinoma; high expression |
| K562 | 29.8 | Leukemia; high expression |
| A549 | 24.1 | Lung carcinoma; medium-high |
| HEK293 | 20.5 | Embryonic kidney; medium |
| MCF7 | 18.3 | Breast carcinoma; medium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | Rare | Likely loss-of-function; associated with developmental delay |
| c.1282G>A (p.Glu428Lys) | Missense | Rare | Uncertain significance; reported in ClinVar |
| Amplification (20q13.31) | Copy number gain | Frequent in breast and colorectal cancers | Gain-of-function; drives overexpression and aneuploidy |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss-of-function; predicted to abolish protein translation |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants (e.g., p.Arg339Trp, p.Met1?) reduce or abolish RAE1 protein function, impairing mRNA export and mitotic fidelity.
Gain of Function (GOF)
Gene amplification and overexpression in cancers lead to increased RAE1 levels, promoting chromosomal instability and tumor progression.
Dominant Negative (DN)
Not clearly established; some missense variants may exert dominant-negative effects by interfering with wild-type RAE1 interactions, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• mRNA Splicing - Major Pathway (Reactome: R-HSA-72163)
• Transport of Mature mRNA derived from an Intron-Containing Transcript (Reactome: R-HSA-159236)
Protein Summary
RAE1 is a 368-amino acid protein (UniProt P78406) containing multiple WD40 repeats that mediate protein-protein interactions. It localizes to the nuclear envelope and spindle poles. RAE1 binds to the nuclear pore complex component NUP98 and the mitotic checkpoint protein MAD1, facilitating both interphase mRNA export and mitotic spindle assembly checkpoint signaling. The protein is essential for cell viability and its dysregulation contributes to aneuploidy and cancer.
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