RANGAP1
Ran GTPase Activating Protein 1
Gene Information Card
| Symbol | RANGAP1 |
|---|---|
| Full Name | Ran GTPase Activating Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 5905 ncbi.nlm.nih.gov/gene/5905 |
| Ensembl ID | ENSG00000100225 |
| UniProt ID | P46060 |
| OMIM ID | 602362 |
| HGNC ID | 9853 |
| Aliases | Fug1, KIAA1835, SDBCAG84 |
Description
RANGAP1 encodes the Ran GTPase-activating protein, which accelerates the hydrolysis of GTP bound to Ran (Ras-related nuclear protein). This protein is essential for regulating nucleocytoplasmic transport, mitotic spindle assembly, and nuclear envelope formation. It localizes to the cytoplasmic face of the nuclear pore complex and interacts with RanBP2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of nuclear transport due to altered RANGAP1 expression or mutation may promote oncogenesis. | COSMIC; literature review |
| Developmental disorders | RANGAP1 mutations affecting nuclear transport can disrupt cell cycle and differentiation. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Liver | 6.4 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical cancer cell line |
| HEK 293 | 13.2 | Embryonic kidney cell line |
| K562 | 11.8 | Leukemia cell line |
| A549 | 9.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact |
| c.452G>A (p.Arg151Gln) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations may impair GTPase activation, disrupting nuclear transport.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • nuclear pore |
| • nucleocytoplasmic transport | • mitotic spindle assembly |
| • Ran GTPase binding |
Pathways
• Ran GTPase cycle
• Nuclear pore complex transport
• Cell cycle
• mitotic
Protein Summary
RANGAP1 is a 587-amino acid protein that acts as a GTPase activator for Ran. It contains a SUMO-interacting motif and is modified by SUMOylation, which regulates its localization and function. The protein is critical for maintaining the Ran GTP gradient across the nuclear envelope.
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