RAB4A
RAB4A, Member RAS Oncogene Family
Gene Information Card
| Symbol | RAB4A |
|---|---|
| Full Name | RAB4A, Member RAS Oncogene Family |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 5867 ncbi.nlm.nih.gov/gene/5867 |
| Ensembl ID | ENSG00000117528 |
| UniProt ID | P20338 |
| OMIM ID | 179511 |
| HGNC ID | 9770 |
| Aliases | RAB4, HRAB4 |
Description
RAB4A is a member of the RAS oncogene family of small GTPases. It regulates endosomal recycling by controlling the sorting and transport of internalized receptors and other cargo from early endosomes back to the plasma membrane. The protein cycles between an active GTP-bound and inactive GDP-bound state, and its activity is modulated by guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered RAB4A expression may disrupt receptor recycling (e.g., EGFR), promoting oncogenic signaling. | ClinVar, COSMIC |
| Gastric cancer | Overexpression of RAB4A correlates with poor prognosis and increased cell proliferation. | COSMIC, literature |
| Neurodegenerative disorders | Impaired endosomal trafficking due to RAB4A dysfunction may contribute to Alzheimer's disease pathology. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Lung | 6.5 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.8 | Medium |
| Testis | 12.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.1 | Cervical cancer cell line |
| MCF7 | 7.4 | Breast cancer cell line |
| A549 | 6.8 | Lung cancer cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.47G>A (p.Arg16His) | Missense | 0.02% (gnomAD) | Unknown functional impact; predicted benign |
| c.164A>G (p.Asn55Ser) | Missense | 0.01% (gnomAD) | May alter GTP binding; uncertain significance |
| c.331C>T (p.Arg111Trp) | Missense | 0.005% (gnomAD) | Reported in COSMIC; potential gain-of-function |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in RAB4A.
Gain of Function (GOF)
The p.Arg111Trp variant is suspected to enhance GTP binding, potentially increasing recycling activity.
Dominant Negative (DN)
No dominant-negative mutations have been described for RAB4A.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • protein transport | • endosomal transport |
| • intracellular protein transport | • regulation of endocytosis |
Pathways
• Endosomal recycling pathway
• RAB4-mediated recycling of endocytosed receptors
• EGFR downregulation
Protein Summary
RAB4A is a small GTPase (23.6 kDa) that localizes to early endosomes and recycling vesicles. It regulates the rapid recycling of internalized receptors such as transferrin receptor and EGFR back to the plasma membrane. The protein contains conserved GTP-binding domains and a C-terminal prenylation motif for membrane attachment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAB4A Knockout HEK293 Cell Line | EDJ-KQ5623 | Human | 5867 | Details Get a Quote |
| RAB4A Knockout A-549 Cell Line | EDJ-KQ28932 | Human | 5867 | Details Get a Quote |
| RAB4A Knockout HCT 116 Cell Line | EDJ-KQ28933 | Human | 5867 | Details Get a Quote |
| RAB4A Knockout HeLa Cell Line | EDJ-KQ28934 | Human | 5867 | Details Get a Quote |
| RAB4A Knockout HAP1 Cell Line | EDC08131 | Human | 5867 | Details Get a Quote |
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