RANBP17
RAN Binding Protein 17
Gene Information Card
| Symbol | RANBP17 |
|---|---|
| Full Name | RAN Binding Protein 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.1 |
| NCBI Gene ID | 64901 ncbi.nlm.nih.gov/gene/64901 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q9H2T7 |
| OMIM ID | 607020 |
| HGNC ID | 9851 |
| Aliases | RANBP17, RanBP17, FLJ10385 |
Description
RANBP17 encodes a member of the importin beta family of nuclear transport receptors. The protein binds RAN GTPase and mediates nuclear import and export of cargo proteins. It is involved in nucleocytoplasmic transport and may play a role in cell cycle regulation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Spleen | 6.1 | Low |
| Bone marrow | 5.4 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 9.8 | Leukemia cell line |
| HeLa | 7.1 | Cervical cancer cell line |
| HEK293 | 6.5 | Embryonic kidney cell line |
| A549 | 4.2 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% (COSMIC) | Loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% (COSMIC) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear import | • nuclear export |
| • protein transport | • GTPase binding |
| • nucleocytoplasmic transport |
Pathways
• Nuclear transport (RAN GTPase cycle)
• Importin beta family pathway
Protein Summary
RANBP17 is a 1123-amino acid protein belonging to the importin beta family. It contains a RAN-binding domain and mediates nuclear transport. The protein is expressed in testis and lymphoid tissues. Mutations are rare and predominantly loss-of-function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
| 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 |
