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Melanophilin

L-N, melanophilin, Mlph, Slac2-a
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 of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Actin, Rab5, CAN, V1a, HAIR
Papers on L-N
Reverse genetic screen for loss-of-function mutations uncovers a frameshifting deletion in the melanophilin gene accountable for a distinctive coat color in Belgian Blue cattle.
New
Charlier et al., Liège, Belgium. In Anim Genet, Feb 2016
In the course of a reverse genetic screen in the Belgian Blue cattle breed, we uncovered a 10-bp deletion (c.87_96del) in the first coding exon of the melanophilin gene (MLPH), which introduces a premature stop codon (p.Glu32Aspfs*1) in the same exon, truncating 94% of the protein.
Putative Prostate Cancer Risk SNP in an Androgen Receptor-Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites.
New
Klocker et al., Innsbruck, Austria. In Hum Mutat, Jan 2016
Of these, rs11891426:T>G in an intron of the melanophilin gene (MLPH) was within a novel putative auxiliary AR-binding motif, which is enriched in the neighborhood of canonical androgen-responsive elements.
Identification of immunohistochemical markers for distinguishing lung adenocarcinoma from squamous cell carcinoma.
New
Wang et al., Shanghai, China. In J Thorac Dis, Aug 2015
Then we detected the expression of six of these genes (MLPH, TMC5, SFTA3, DSG3, DSC3 and CALML3) in lung cancer sections using immunohistochemical staining.
Association of prostate cancer risk variants with gene expression in normal and tumor tissue.
Stampfer et al., Boston, United States. In Cancer Epidemiol Biomarkers Prev, 2015
RESULTS: In addition to confirming previously reported associations, we detected several new significant (P < 0.05) associations of variants with the expression of nearby genes including C2orf43, ITGA6, MLPH, CHMP2B, BMPR1B, and MTL5.
High Expression of Three-Gene Signature Improves Prediction of Relapse-Free Survival in Estrogen Receptor-Positive and Node-Positive Breast Tumors.
Padigaru et al., Mumbai, India. In Biomark Insights, 2014
In our previous study, we identified a group of seven genes (GATA3, NTN4, SLC7A8, ENPP1, MLPH, LAMB2, and PLAT) that show elevated messenger RNA (mRNA) expression levels in ERα (+) breast cancer patient samples.
MEXPRESS: visualizing expression, DNA methylation and clinical TCGA data.
Van Criekinge et al., Gent, Belgium. In Bmc Genomics, 2014
We also used MEXPRESS to reveal the differences in the DNA methylation status of the PAM50 marker gene MLPH between the breast cancer subtypes and how these differences were linked to the expression of MPLH.
Melanophilin Stimulates Myosin-5a Motor Function by Allosterically Inhibiting the Interaction between the Head and Tail of Myosin-5a.
Li et al., Beijing, China. In Sci Rep, 2014
We previously reported that melanophilin (Mlph), a myosin-5a cargo-binding protein, is capable of activating myosin-5a motor function.
Cargo recognition and cargo-mediated regulation of unconventional myosins.
Review
Impact
Zhang et al., Hong Kong, Hong Kong. In Acc Chem Res, 2014
A series of atomic structures of myosin-V/cargo complexes solved recently reveals that the globular cargo binding tail of the motor contains a number of nonoverlapping target recognition sites for binding to its cargoes including melanophilin, vesicle adaptors RILPL2, and vesicle-bound GTPase Rab11.
FABP7 and HMGCS2 are novel protein markers for apocrine differentiation categorizing apocrine carcinoma of the breast.
Gromova et al., Copenhagen, Denmark. In Plos One, 2013
We have also presented a detailed immunohistochemical analysis of breast apocrine lesions with a panel of antibodies against proteins which correspond to 10 genes selected from published transcriptomic signatures that currently characterize molecular apocrine subtype and shown that except for melanophilin that is overexpressed in benign apocrine lesions, these proteins were not specific for morphological apocrine differentiation in breast.
[Hypomelanoses transmitted from generation to generation].
Review
Wrześniok et al., Laizhou, China. In Postepy Hig Med Dosw (online), 2013
These disorders are represented by oculocutaneous albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, Menkes syndrome and phenylketonuria, and are caused by different mutations of the following genes: TYR, P, TRP1, MATP, HPS, CHS, MYO5A, RAB27A, MLPH, ATP7A and PAH.
Cellular and clinical report of new Griscelli syndrome type III cases.
GeneRIF
Anikster et al., Bethesda, United States. In Pigment Cell Melanoma Res, 2012
The pathologic defect in Griscelli syndrome 3 came from the MLPH R35W substitution, which induced aggregation of melanosomes in the perinuclear area of melanocytes because of failure to interact with RAB27A.
Griscelli syndrome: a model system to study vesicular trafficking.
Review
Lambert et al., Gent, Belgium. In Pigment Cell Melanoma Res, 2009
Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes.
Physiological factors that regulate skin pigmentation.
Review
Hearing et al., Nagoya, Japan. In Biofactors, 2009
Microtubules, dynein, kinesin, actin filaments, Rab27a, melanophilin, myosin Va, and Slp2-a are involved in melanosome transport.
Structural basis for the exclusive specificity of Slac2-a/melanophilin for the Rab27 GTPases.
GeneRIF
Yokoyama et al., Yokohama, Japan. In Structure, 2008
structural basis for the exclusive association of Slac2-a with the Rab27 subfamily.
Calcium and cargoes as regulators of myosin 5a activity.
Review
Knight et al., Bethesda, United States. In Biochem Biophys Res Commun, 2008
The actin-activated MgATPase activity of myosin 5a is activated by increasing the calcium concentration or by binding of a cargo-receptor molecule, melanophilin, in vitro.
Rab27a and MyoVa are the primary Mlph interactors regulating melanosome transport in melanocytes.
GeneRIF
Seabra et al., London, United Kingdom. In J Cell Sci, 2007
Data suggest that Mlph is targeted to and/or stabilised on melanosomes by Rab27a, and then recruits MyoVa, which provides additional stability to the complex and allows melanosomes to transfer from MT to actin-based transport.
Melanophilin, a novel aldosterone-induced gene in mouse cortical collecting duct cells.
GeneRIF
Náray-Fejes-Tóth et al., United States. In Am J Physiol Renal Physiol, 2007
The transcript levels of melanophilin, a protein involved in vesicular trafficking in melanocytes, are rapidly increased by aldosterone in cortical collecting duct cells
Identification of a minimal myosin Va binding site within an intrinsically unstructured domain of melanophilin.
GeneRIF
Spudich et al., Stanford, United States. In J Biol Chem, 2007
analysis of the minimal myosin Va binding site within an intrinsically unstructured domain of melanophilin
Rab27A-binding protein Slp2-a is required for peripheral melanosome distribution and elongated cell shape in melanocytes.
Impact
Fukuda et al., Wako, Japan. In Nat Cell Biol, 2004
By contrast, knockdown of Slac2-a (also called melanophilin), another Rab27A-binding protein in melanocytes, caused perinuclear aggregation of melanosomes alone without altering cell shape.
Identification of an organelle receptor for myosin-Va.
Impact
GeneRIF
Hammer et al., Bethesda, United States. In Nat Cell Biol, 2002
myosin Va binds to melanophilin and Rab27a
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