RAB3IL1 Human
Description
Introduction to RAB3IL1
RAB3IL1 (RAB3A Interacting Protein Like 1), also known as GRAB, is a protein-coding gene located on chromosome 11 (11q12.2-q12.3) in humans . It encodes a guanine nucleotide exchange factor (GEF) that activates Rab GTPases, particularly Rab3A, Rab8A, and Rab8B . This activation enables these GTPases to regulate vesicle-mediated transport, synaptic exocytosis, and membrane trafficking .
Key Features:
Protein Structure and Isoforms
RAB3IL1 exhibits structural complexity due to alternative splicing, producing multiple isoforms:
| Transcript ID | Length (aa) | UniProt Match | Biotype |
|---|---|---|---|
| ENST00000394836.7 | 382 | Q8TBN0-1 | Protein-coding (canonical) |
| ENST00000531922.2 | 477 | N/A | Protein-coding (alternative) |
| ENST00000301773.9 | 356 | Q8TBN0-2 | Protein-coding (alternative) |
The canonical isoform (ENSP00000378313) is expressed in E. coli as a recombinant protein (>90% purity) for biochemical studies .
Functional Role and Interactions
RAB3IL1 acts as a GEF, promoting GDP-to-GTP exchange in Rab proteins, thereby activating them . Key interactions and pathways include:
Interaction Network (STRING Database)
Pathways
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Synaptic Vesicle Exocytosis: Activates Rab3A to facilitate neurotransmitter release .
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Membrane Trafficking: Collaborates with the exocyst complex (EXOC6) for vesicle fusion .
Clinical Links
Tissue Distribution
RAB3IL1 is expressed in brain regions (e.g., hippocampus, cerebellum) and peripheral tissues (e.g., liver, kidney) . The Human Protein Atlas reports moderate expression in 20 cancers, though survival correlations remain unestablished .
Cancer Expression
| Cancer Type | Expression Level | Reliability Score |
|---|---|---|
| Breast, Lung, Liver | Moderate | Supported/Approved |
Biochemical Tools
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Recombinant Protein: Used in SDS-PAGE, mass spectrometry, and interaction studies .
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Antibodies: Immunohistochemistry confirms subcellular localization in neurons and epithelial cells .
Mechanistic Insights
Product Specs
Product Science Overview
RAB3A Interacting Protein Like 1 (RAB3IL1), also known as Guanine Nucleotide Exchange Factor for Rab-3A (GRAB), is a protein encoded by the RAB3IL1 gene in humans. This protein is a member of the SEC2 family and plays a crucial role in the regulation of synaptic vesicle exocytosis by activating Rab3A, a GTPase .
RAB3IL1 functions as a guanine nucleotide exchange factor (GEF) for Rab3A. It promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form . This activation is essential for the regulation of vesicle-mediated transport and Rab regulation of trafficking . Additionally, RAB3IL1 may also activate other Rab proteins such as RAB8A and RAB8B .
RAB3IL1 is expressed in various tissues, including lymphoid tissue, bone marrow, testis, and skeletal muscle . It is involved in several biological processes such as protein ubiquitination, immune response, and spermatid development . The protein interacts with multiple other proteins, indicating its involvement in complex cellular pathways .
Mutations or dysregulation of the RAB3IL1 gene have been associated with certain diseases, including Spinal Muscular Atrophy with Lower Extremity Predominant 1 . Understanding the function and regulation of RAB3IL1 can provide insights into the molecular mechanisms underlying these conditions and potentially lead to the development of targeted therapies.
Human recombinant RAB3IL1 is used in various research applications to study its role in cellular processes and disease mechanisms. The recombinant protein is produced using advanced biotechnological methods to ensure high purity and activity . Researchers utilize this protein to investigate its interactions, regulatory mechanisms, and potential therapeutic applications.
