Protein Summary
Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
- ENST00000264605
- ENSP00000264605
- ENSG00000115648
- ENST00000338530
- ENSP00000341845
- ENST00000409373
- ENSP00000386780
- ENST00000410032
- ENSP00000386338
- SLAC2A
- SLAC2-A
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
transcription factor perturbation | 0.98 | ||
virus perturbation | 0.94 | ||
cellular component | 0.9 | ||
microRNA | 0.81 | ||
PubMedID | 0.78 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 72.44 (req: < 5)
Gene RIFs: 17 (req: <= 3)
Antibodies: 208 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 72.44 (req: >= 5)
Gene RIFs: 17 (req: > 3)
Antibodies: 208 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 7
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0