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RAB4A Gene, Ras-Related Protein Rab-4A
Introduction
Rab4A Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@raba2000]
| Attribute | Value | [@rab2004] |-----------|-------| [@raba2010] | Gene Symbol | RAB4A | [@lrrk2016] | Full Name | Ras-Related Protein Rab-4A | | Chromosomal Location | 1q42.13 | | NCBI Gene ID | [5868](https://www.ncbi.nlm.nih.gov/gene/5868) | | Ensembl ID | ENSG00000168118 | | UniProt ID | [P31160](https://www.uniprot.org/uniprot/P31160) | | Gene Family | Rab GTPases | | Protein Class | Small GTPase |
</div>}
Overview
The RAB4A gene encodes a member of the Rab family of small GTPases that regulates rapid recycling of proteins from early endosomes back to the plasma membrane. This recycling pathway is critical for maintaining receptor density at the cell surface, synaptic plasticity, and cellular signaling. RAB4A is a key regulator of the fast recycling pathway, distinguishing it from the slower recycling mediated by RAB11.
Gene Structure and Evolution
Genomic Organization
Location: Chromosome 1q42.13
Gene Length: ~13 kb
Exons: 7 coding exons
Alternative Splicing: Multiple transcript variants
Protein Domains
...
RAB4A Gene, Ras-Related Protein Rab-4A
Introduction
Rab4A Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@raba2000]
| Attribute | Value | [@rab2004] |-----------|-------| [@raba2010] | Gene Symbol | RAB4A | [@lrrk2016] | Full Name | Ras-Related Protein Rab-4A | | Chromosomal Location | 1q42.13 | | NCBI Gene ID | [5868](https://www.ncbi.nlm.nih.gov/gene/5868) | | Ensembl ID | ENSG00000168118 | | UniProt ID | [P31160](https://www.uniprot.org/uniprot/P31160) | | Gene Family | Rab GTPases | | Protein Class | Small GTPase |
</div>}
Overview
The RAB4A gene encodes a member of the Rab family of small GTPases that regulates rapid recycling of proteins from early endosomes back to the plasma membrane. This recycling pathway is critical for maintaining receptor density at the cell surface, synaptic plasticity, and cellular signaling. RAB4A is a key regulator of the fast recycling pathway, distinguishing it from the slower recycling mediated by RAB11.
Gene Structure and Evolution
Genomic Organization
Location: Chromosome 1q42.13
Gene Length: ~13 kb
Exons: 7 coding exons
Alternative Splicing: Multiple transcript variants
Protein Domains
| Domain | Function | |--------|----------| | GxxxxGKST | Nucleotide binding (GTP/GDP) | | DxxG | GTPase active site | | NKXD | Effector binding | | Hypervariable region | Substrate specificity | | C-terminal CAAX | Prenylation/membrane anchoring |
Molecular Function
GTPase Cycle
RAB4A cycles between active (GTP-bound) and inactive (GDP-bound) states:
GDP-bound state - Inactive form in cytoplasm, bound to GDP Dissociation Inhibitor (GDI)
PMID: 20826645(https://pubmed.ncbi.nlm.nih.gov/20826645/) - RAB4A and synaptic plasticity. J Neurosci. 2010
Background
The study of Rab4A Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.