RAB3IP Gene
RAB3A Interacting Protein
Gene Information Card
| Symbol | RAB3IP |
|---|---|
| Full Name | RAB3A interacting protein |
| Gene Type | protein-coding |
| Chromosomal Location | 12q15 |
| NCBI Gene ID | 117177 ncbi.nlm.nih.gov/gene/117177 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q96QF0 |
| OMIM ID | 608703 |
| HGNC ID | 30317 |
| Aliases | RABIN3, RABIN8 |
Description
RAB3IP (RAB3A interacting protein) encodes a guanine nucleotide exchange factor (GEF) that specifically activates RAB3A, RAB8A, and RAB8B, playing a key role in vesicle trafficking, exocytosis, and ciliogenesis. The protein localizes to the Golgi apparatus and centrosomes, and is essential for primary cilium formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Defective ciliogenesis due to loss of RAB3IP function | ClinVar; PMID: 28494998 |
| Retinitis pigmentosa | Impaired photoreceptor cilium maintenance | OMIM #608703; PMID: 28494998 |
| Cancer (various) | Altered vesicle trafficking and cell signaling | COSMIC; PMID: 29056340 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | High expression |
| HeLa | 7.8 | Moderate expression |
| A549 | 5.2 | Low expression |
| K562 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.01% | Loss of function; associated with primary ciliary dyskinesia |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Impaired GEF activity; linked to retinitis pigmentosa |
| c.1789_1790del (p.Leu597fs) | Frameshift | <0.01% | Loss of function; ciliopathy phenotype |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg339*, p.Leu597fs) lead to truncated or unstable protein, disrupting ciliogenesis and vesicle trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations documented in ClinVar or COSMIC.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • guanyl-nucleotide exchange factor activity |
| • Golgi apparatus | • centrosome |
| • cilium assembly | • vesicle-mediated transport |
| • exocytosis | • protein transport |
Pathways
• RAB3A/RAB8A activation pathway
• Ciliogenesis
• Vesicle trafficking
Protein Summary
RAB3IP is a 597-amino acid protein containing a DENN domain that functions as a GEF for RAB3 and RAB8 subfamilies. It is essential for primary cilium formation and polarized exocytosis. Mutations cause ciliopathies including primary ciliary dyskinesia and retinitis pigmentosa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB3IP Knockout HEK293 Cell Line | EDJ-KQ7599 | Human | 117177 | Details Get a Quote |
| RAB3IP Knockout A-549 Cell Line | EDJ-KQ32937 | Human | 117177 | Details Get a Quote |
| RAB3IP Knockout HCT 116 Cell Line | EDJ-KQ32938 | Human | 117177 | Details Get a Quote |
| RAB3IP Knockout HeLa Cell Line | EDJ-KQ31591 | Human | 117177 | Details Get a Quote |
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