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RAB27A

Engineered Antibody
The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified.
Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Intestinal goblet cells, Alveolar cells type 2)

Immune cell specificity

Immune cell enhanced (basophil)

Cell line specificity

Cell line enhanced (HL-60, K-562, Karpas-707, SK-MEL-30, U-937)

Interaction

Binds SYTL1, SLAC2B, MYRIP, SYTL3, SYTL4 and SYTL5. Interacts with RPH3A and RPH3A (By similarity). Binds MLPH and SYTL2. Interacts with UNC13D. Does not interact with the BLOC-3 complex (heterodimer of HPS1 and HPS4) (PubMed:20048159). Interacts (GDP-bound form preferentially) with DENND10 (PubMed:30771381).

Molecular function

Hydrolase

More Types Infomation

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