Melanophilin
| MLPH | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 2: 237.49 – 237.56 Mb | Chr 1: 90.84 – 90.88 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Melanophilin is a
transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.Function
This gene encodes a member of the
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]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000115648 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026303 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 11504925.
- PMID 11980908.
- S2CID 14844547.
- ^ "Entrez Gene: MLPH Melanophilin".
- S2CID 24698373.
- PMID 17519392.
- PMID 16860533.
- PMID 19307593.
Further reading
- Passeron T, Bahadoran P, Bertolotto C, et al. (2004). "Cyclic AMP promotes a peripheral distribution of melanosomes and stimulates melanophilin/Slac2-a and actin association". FASEB J. 18 (9): 989–91. S2CID 24564755.
- Fukuda M (2003). "Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2". J. Biol. Chem. 278 (17): 15373–80. PMID 12578829.
- Fukuda M, Kuroda TS (2002). "Slac2-c (synaptotagmin-like protein homologue lacking C2 domains-c), a novel linker protein that interacts with Rab27, myosin Va/VIIa, and actin". J. Biol. Chem. 277 (45): 43096–103. PMID 12221080.
- Westbroek W, Lambert J, Bahadoran P, et al. (2003). "Interactions of human Myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain". J. Invest. Dermatol. 120 (3): 465–75. PMID 12603861.
- Fukuda M, Kuroda TS (2004). "Missense mutations in the globular tail of myosin-Va in dilute mice partially impair binding of Slac2-a/melanophilin". J. Cell Sci. 117 (Pt 4): 583–91. PMID 14730011.
- Seabra MC, Coudrier E (2004). "Rab GTPases and myosin motors in organelle motility". Traffic. 5 (6): 393–9. S2CID 46201875.
- Bahadoran P, Busca R, Chiaverini C, et al. (2003). "Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome". J. Biol. Chem. 278 (13): 11386–92. PMID 12531900.
- Wu X, Sakamoto T, Zhang F, et al. (2006). "In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va". FEBS Lett. 580 (25): 5863–8. S2CID 23921179.
- Ménasché G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G (August 2003). "Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)". J. Clin. Invest. 112 (3): 450–6. PMID 12897212.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Fukuda M, Kuroda TS, Mikoshiba K (2002). "Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport". J. Biol. Chem. 277 (14): 12432–6. PMID 11856727.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. PMID 14702039.
- Lukusa T, Vermeesch JR, Holvoet M, et al. (2004). "Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder". Genet. Couns. 15 (3): 293–301. PMID 15517821.
- Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. PMID 12975309.
- Fukuda M (2002). "Synaptotagmin-like protein (Slp) homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A". J. Biol. Chem. 277 (42): 40118–24. PMID 12189142.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Park JW, Cai J, McIntosh I, et al. (2006). "High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts". J. Med. Genet. 43 (7): 598–608. PMID 16415175.
External links
- melanophilin+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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