Melanophilin

Melanophilin is a carrier protein which in humans is encoded by the MLPH gene.^[5][6] Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

MLPH
Identifiers
Aliases	MLPH, SLAC2-A, melanophilin
External IDs	OMIM: 606526; MGI: 2176380; HomoloGene: 11465; GeneCards: MLPH; OMA:MLPH - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q37.3 Start 237,485,428 bp[1] End 237,555,322 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 D|1 45.73 cM Start 90,842,807 bp[2] End 90,878,864 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell parotid gland right uterine tube canal of the cervix right lung olfactory zone of nasal mucosa minor salivary glands nasal epithelium apex of heart prostate Top expressed in pyloric antrum lacrimal gland epithelium of stomach mucous cell of stomach salivary gland submandibular gland parotid gland iris decidua Ileal epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding metal ion binding actin binding myosin binding protein-macromolecule adaptor activity Cellular component cytoplasm perinuclear region of cytoplasm dendrite extracellular exosome cortical actin cytoskeleton Biological process intracellular protein transport vesicle transport along actin filament melanosome transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79083 171531 Ensembl ENSG00000115648 ENSMUSG00000026303 UniProt Q9BV36 Q91V27 RefSeq (mRNA) NM_001042467 NM_001281473 NM_001281474 NM_024101 NM_053015 RefSeq (protein) NP_001035932 NP_001268402 NP_001268403 NP_077006 NP_443748 Location (UCSC) Chr 2: 237.49 – 237.56 Mb Chr 1: 90.84 – 90.88 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[7] 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.^[8]

In melanocytic cells MLPH gene expression may be regulated by MITF.^[9]

Clinical significance

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.

Mutations in melanophilin cause the "dilute" coat color phenotype in dogs^[10] and cats.^[11] Variation in this gene appears to have been a target for recent natural selection in humans, and it has been hypothesized that this is due to a role in human pigmentation.^[12]