RANBP3L Gene - RAN Binding Protein 3 Like
Comprehensive genomic and functional annotation of RANBP3L
Gene Information Card
| Symbol | RANBP3L |
|---|---|
| Full Name | RAN Binding Protein 3 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 202151 ncbi.nlm.nih.gov/gene/202151 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q9H6Z4 |
| OMIM ID | 618174 |
| HGNC ID | 23308 |
| Aliases | RANBP3-like, RANBP3L1 |
Description
RANBP3L (RAN Binding Protein 3 Like) is a protein-coding gene located on chromosome 5p13.2. The encoded protein is similar to RANBP3, a nuclear export factor that interacts with the small GTPase RAN. RANBP3L is involved in nuclear transport and may play a role in cell cycle regulation and differentiation. Expression is enriched in testis and certain cancer cell lines.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect nuclear transport and cell proliferation | Limited evidence from expression studies |
| Male infertility | Potential role in spermatogenesis based on testis expression | Inferred from tissue expression |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 6.2 | Low |
| Prostate | 4.8 | Low |
| Lung | 3.1 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.7 | Cervical cancer cell line |
| K562 | 6.3 | Leukemia cell line |
| A549 | 4.1 | Lung cancer cell line |
| HEK293 | 3.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown |
| c.521A>G (p.Asn174Ser) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • RAN GTPase binding (GO:0008536) |
| • mRNA transport (GO:0051028) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• Nuclear transport (RAN GTPase cycle)
• Regulation of nucleocytoplasmic transport
Protein Summary
RANBP3L is a 499-amino acid protein that contains a RAN-binding domain. It localizes to the nucleus and cytoplasm and interacts with RAN GTPase to facilitate nuclear export of cargo proteins. The protein is expressed in multiple tissues, with highest levels in testis. Its exact physiological role remains under investigation, but it is implicated in nuclear transport and cell cycle control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RANBP3L Knockout HEK293 Cell Line | EDJ-KQ5110 | Human | 202151 | Details Get a Quote |
| RANBP3L Knockout HeLa Cell Line | EDJ-KQ59030 | Human | 202151 | Details Get a Quote |
| RANBP3L Knockout A-549 Cell Line | EDJ-KQ67510 | Human | 202151 | Details Get a Quote |
| RANBP3L Knockout HCT 116 Cell Line | EDJ-KQ75907 | Human | 202151 | Details Get a Quote |
