RANBP1
RAN Binding Protein 1
Gene Information Card
| Symbol | RANBP1 |
|---|---|
| Full Name | RAN Binding Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 5902 ncbi.nlm.nih.gov/gene/5902 |
| Ensembl ID | ENSG00000100099 |
| UniProt ID | P43487 |
| OMIM ID | 601180 |
| HGNC ID | 9847 |
| Aliases | RanBP1, HTF9A |
Description
RANBP1 encodes a protein that binds to the small GTPase Ran, regulating nucleocytoplasmic transport by modulating Ran-GTP hydrolysis and nucleotide exchange. It is involved in cell cycle progression, spindle assembly, and nuclear envelope dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of RanBP1 alters nuclear transport and mitotic spindle assembly, contributing to genomic instability. | COSMIC; PMID: 23481259 |
| Intellectual disability (candidate) | Deletion of 22q11.21 region including RANBP1 may affect neuronal development. | ClinVar; PMID: 25217958 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 18.2 | Medium |
| Brain | 12.1 | Medium |
| Liver | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.3 | High expression |
| HEK293 | 19.7 | Medium expression |
| K562 | 15.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.374C>T (p.Thr125Ile) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair Ran binding or GTPase regulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear transport (GO:0051169) | • Ran GTPase binding (GO:0008536) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
Pathways
• Ran regulation of mitotic spindle formation (Reactome: R-HSA-8854518)
• Nuclear import/export (Reactome: R-HSA-164944)
Protein Summary
RANBP1 is a 201-amino acid cytoplasmic protein that binds Ran-GTP and stimulates RanGAP1-mediated GTP hydrolysis, essential for proper nuclear transport and mitotic progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RANBP10 Knockout HEK293 Cell Line | EDJ-KQ14990 | Human | 57610 | Details Get a Quote |
| RANBP17 Knockout HEK293 Cell Line | EDJ-KQ14991 | Human | 64901 | Details Get a Quote |
| RANBP17 Knockout HeLa Cell Line | EDJ-KQ44239 | Human | 64901 | Details Get a Quote |
| RANBP10 Knockout A-549 Cell Line | EDJ-KQ45496 | Human | 57610 | Details Get a Quote |
| RANBP10 Knockout HCT 116 Cell Line | EDJ-KQ45497 | Human | 57610 | Details Get a Quote |
| RANBP10 Knockout HeLa Cell Line | EDJ-KQ45498 | Human | 57610 | Details Get a Quote |
| RANBP17 Knockout A-549 Cell Line | EDJ-KQ45499 | Human | 64901 | Details Get a Quote |
| RANBP17 Knockout HCT 116 Cell Line | EDJ-KQ45500 | Human | 64901 | Details Get a Quote |
| RANBP1 Knockout HEK293 Cell Line | EDJ-KQ50560 | Human | 5902 | Details Get a Quote |
| RANBP1 Knockout HeLa Cell Line | EDJ-KQ54291 | Human | 5902 | Details Get a Quote |
| RANBP1 Knockout A-549 Cell Line | EDJ-KQ62787 | Human | 5902 | Details Get a Quote |
| RANBP1 Knockout HCT 116 Cell Line | EDJ-KQ71252 | Human | 5902 | Details Get a Quote |
