======= MLPH ======= == Gene Information == * **Official Symbol**: MLPH * **Official Name**: melanophilin * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79083|79083]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q9BV36|Q9BV36]] * **Interactions**: [[https://thebiogrid.org/search.php?search=MLPH&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MLPH|Open PubMed]] * **OMIM**: [[https://omim.org/entry/606526|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A. {ECO:0000269|PubMed:12062444}. |MOBP C-Myrip| |melanosome transport| |pigment granule transport| |establishment of melanosome localization| |establishment of pigment granule localization| |melanosome localization| |myosin binding| |pigment granule localization| |cellular pigmentation| |cortical actin cytoskeleton| |protein binding, bridging| |pigmentation| |Rab GTPase binding| |establishment of vesicle localization| |vesicle localization| |actin binding| |establishment of organelle localization| |dendrite| |organelle localization| |perinuclear region of cytoplasm| |intracellular protein transport| |protein transport| |intracellular transport| |peptide transport| |amide transport| |cellular protein localization| |cellular macromolecule localization| |establishment of protein localization| |establishment of localization in cell| |nitrogen compound transport| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|1.99| |[[:results:exp351|Dexamethasone 0.006μM R07 exp351]]|2.24| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 0/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 5697 * **Expression level (log2 read counts)**: 1.43 {{:chemogenomics:nalm6 dist.png?nolink |}}