| Gene Symbol |
RAB5A
|
| Entrez Gene |
5868
|
| Alt Symbol |
RAB5
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
RAB5A, member RAS oncogene family
|
| Other Description |
RAS-associated protein RAB5A|ras-related protein Rab-5A
|
| Swissprots |
Q6FI44 P20339 B4DJA5
|
| Accessions |
EAW64301 EAW64302 EAW64303 P20339 AF464088 AAO15677 AF498936 AAM21084 AK295992 BAG58767 AK309287 AK312618 BAG35504 AM392797 CAL37675 AM393001 CAL37879 BC001267 AAH01267 BC018288 AAH18288 BJ991078 CR536492 CAG38731 DA972638 DC330362 DQ891790 ABM82716 DQ894972 ABM85898 M28215 AAA60245 X13903 CAA32103 NM_001292048 NP_001278977 NM_004162 NP_004153
|
| Function |
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes. Contributes to the regulation of filopodia extension. {ECO:0000269|PubMed:10818110, ECO:0000269|PubMed:14617813, ECO:0000269|PubMed:14978216, ECO:0000269|PubMed:15378032, ECO:0000269|PubMed:16410077}.
|
| Subcellular Location |
Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Early endosome membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Melanosome. Cytoplasmic vesicle {ECO:0000250}. Cell projection, ruffle {ECO:0000250}. Membrane. Cytoplasm, cytosol. Note=Enriched in stage I melanosomes. Alternates between membrane-bound and cytosolic forms.
|
| Top Pathways |
Amyotrophic lateral sclerosis (ALS), Endocytosis, Vasopressin-regulated water reabsorption, Phagosome, Amoebiasis
|
