RGPD1: RANBP2-like and GRIP domain-containing protein 1
A gene encoding a nuclear pore complex-associated protein with potential roles in nucleocytoplasmic transport and cancer.
Gene Information Card
| Symbol | RGPD1 |
|---|---|
| Full Name | RANBP2-like and GRIP domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 84221 ncbi.nlm.nih.gov/gene/84221 |
| Ensembl ID | ENSG00000162931 |
| UniProt ID | Q9H6Y5 |
| OMIM ID | 617135 |
| HGNC ID | 29076 |
| Aliases | RANBP2L1, KIAA1331, FLJ10305 |
Description
RGPD1 (RANBP2-like and GRIP domain containing 1) is a protein-coding gene located on chromosome 2p13.1. The encoded protein contains a RANBP2-type zinc finger and a GRIP domain, suggesting involvement in nuclear pore complex function and nucleocytoplasmic transport. RGPD1 is part of a gene family related to RANBP2, a component of the nuclear pore complex. Expression is observed in multiple tissues, with highest levels in testis and brain. Alterations in RGPD1 have been reported in some cancer types, though functional characterization remains limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential role in nucleocytoplasmic transport dysregulation; limited direct evidence | COSMIC mutation data; no established disease association in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 5.1 | Low |
| Liver | 3.2 | Not detected |
| Heart | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.7 | Embryonic kidney; moderate expression |
| HeLa | 4.2 | Cervical carcinoma; low expression |
| K562 | 2.1 | Leukemia; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | 0.02% (gnomAD) | p.Arg412Cys; uncertain significance |
| c.567_568insA | frameshift | 0.001% (COSMIC) | Predicted loss-of-function; reported in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause loss of function; observed in cancer samples (COSMIC).
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore (GO:0005643) | • protein binding (GO:0005515) |
| • Ran GTPase binding (GO:0008536) | • mRNA transport (GO:0051028) |
Pathways
• Nucleocytoplasmic transport (Reactome: R-HSA-157279)
• Ran GTPase cycle (Reactome: R-HSA-6811434)
Protein Summary
The RGPD1 protein (UniProt Q9H6Y5) contains a RANBP2-type zinc finger domain and a GRIP domain. It is predicted to localize to the nuclear pore complex and may participate in Ran-dependent nucleocytoplasmic transport. The protein is 1,024 amino acids long with a molecular mass of ~115 kDa. Structural and functional studies are limited; homology to RANBP2 suggests a role in cargo recognition and transport regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RGPD1 Knockout HEK293 Cell Line | EDJ-KQ11605 | Human | 400966 | Details Get a Quote |
| RGPD1 Knockout HeLa Cell Line | EDJ-KQ60284 | Human | 400966 | Details Get a Quote |
| RGPD1 Knockout A-549 Cell Line | EDJ-KQ68746 | Human | 400966 | Details Get a Quote |
| RGPD1 Knockout HCT 116 Cell Line | EDJ-KQ77112 | Human | 400966 | Details Get a Quote |
