MLPH
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| melanophilin | MIM:606526 | Ensembl:ENSG00000115648 | HGNC:HGNC:29643 | PA134899891 | 2q37.3 |
GO terms in MLPH
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0006886 | intracellular protein transport |
| BP | NAS | GO:0032402 | melanosome transport |
| CC | IDA | GO:0030425 | dendrite |
| CC | IBA | GO:0030864 | cortical actin cytoskeleton |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| CC | HDA | GO:0070062 | extracellular exosome |
| MF | IBA | GO:0003779 | actin binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0017022 | myosin binding |
| MF | IPI | GO:0017022 | myosin binding |
| MF | IBA | GO:0017137 | Rab GTPase binding |
| MF | IPI | GO:0017137 | Rab GTPase binding |
| MF | IPI | GO:0030674 | protein binding, bridging |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: MLPH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MLPH
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2291 | Deregulation of Rab and Rab Effector Genes in Bladder Cancer |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MLPH
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