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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
melanophilinMIM:606526Ensembl:ENSG00000115648HGNC:HGNC:29643PA1348998912q37.3

GO terms in MLPH


Term TypeEvidence TypeGO Term IDGO Des.
BPIEAGO:0006886intracellular protein transport
BPNASGO:0032402melanosome transport
CCIDAGO:0030425dendrite
CCIBAGO:0030864cortical actin cytoskeleton
CCIDAGO:0048471perinuclear region of cytoplasm
CCHDAGO:0070062extracellular exosome
MFIBAGO:0003779actin binding
MFIPIGO:0005515protein binding
MFIBAGO:0017022myosin binding
MFIPIGO:0017022myosin binding
MFIBAGO:0017137Rab GTPase binding
MFIPIGO:0017137Rab GTPase binding
MFIPIGO:0030674protein binding, bridging
MFIEAGO:0046872metal ion binding

Gene expression in normal tissue: MLPH

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in MLPH


DatabasePathway IDPathway Des.
wikipathwaysWP2291Deregulation of Rab and Rab Effector Genes in Bladder Cancer

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD30917AAG1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in MLPH

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