Tbio MLPH Melanophilin

Protein Summary

Description

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]

Uniprot Accession IDs

• Q9BV36
• B3KSS2
• B4DKW7
• G5E9G5
• Q9HA71

Gene Name

• MLPH

Ensembl ID

• ENST00000264605
• ENSP00000264605
• ENSG00000115648
• ENST00000338530
• ENSP00000341845
• ENST00000409373
• ENSP00000386780
• ENST00000410032
• ENSP00000386338

Symbol

• SLAC2A
• SLAC2-A

Knowledge Table

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

PANTHER Classes

Protein / Enzyme Modulator / G-protein Modulator / Melanophilin

Protein / Cytoskeletal Protein / Actin Family Cytoskeletal Protein / Non-motor Actin Binding Protein / Melanophilin

Protein / Cytoskeletal Protein / Actin Family Cytoskeletal Protein / Actin Binding Motor Protein / Melanophilin

DTO Classes

Protein / Cellular Structure / Actin Family Cytoskeletal Protein / Actin Binding Motor Protein / Melanophilin

IDG Development Level Summary

Tdark

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: 14   (req: <= 3)

Antibodies: 208   (req: <= 50)

Tbio

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: 14   (req: > 3)

Antibodies: 208   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0