The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
Function:
Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration.
Subcellular Location:
Cell membrane; Lipid-anchor; Cytoplasmic side
Tissue Specificity:
Ubiquitous.
Similarity:
Belongs to the small GTPase superfamily. Rab family.
SWISS:
Q9NP72
Gene ID:
22931
Database links:
Entrez Gene: 22931 Human
Entrez Gene: 19330 Mouse
Entrez Gene: 307039 Rat
Omim: 602207 Human
SwissProt: Q9NP72 Human
SwissProt: P35293 Mouse
SwissProt: Q5EB77 Rat
Unigene: 406799 Human
Unigene: 132802 Mouse
Unigene: 472772 Mouse
Unigene: 53248 Rat
|
|
