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词条 Melanophilin
释义

  1. Function

  2. Clinical significance

  3. References

  4. Further reading

  5. External links

{{Infobox_gene}}

Melanophilin is a carrier protein which in humans is encoded by the MLPH gene.[1][2] 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.

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.[3] 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.[4]

In melanocytic cells MLPH gene expression may be regulated by MITF.[5]

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[6] and cats.[7] 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.[8]

References

1. ^{{cite journal |vauthors=Matesic LE, Yip R, Reuss AE, Swing DA, O'Sullivan TN, Fletcher CF, Copeland NG, Jenkins NA | title = Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 98 | issue = 18 | pages = 10238–43 |date=August 2001 | pmid = 11504925 | pmc = 56945 | doi = 10.1073/pnas.181336698 | url = }}
2. ^{{cite journal |vauthors=Strom M, Hume AN, Tarafder AK, Barkagianni E, Seabra MC | title = A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport | journal = J. Biol. Chem. | volume = 277 | issue = 28 | pages = 25423–30 |date=July 2002 | pmid = 11980908 | doi = 10.1074/jbc.M202574200 | url = }}
3. ^{{cite journal |vauthors=Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K, Takeuchi T, Izumi T | title = Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions | journal = FEBS Lett. | volume = 517 | issue = 1–3 | pages = 233–8 |date=April 2002 | pmid = 12062444 | doi = 10.1016/S0014-5793(02)02634-0 | url = }}
4. ^{{cite web | title = Entrez Gene: MLPH Melanophilin | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79083| accessdate = }}
5. ^{{cite journal |vauthors=Hoek KS, Schlegel NC, Eichhoff OM, etal | title = Novel MITF targets identified using a two-step DNA microarray strategy | journal = Pigment Cell Melanoma Res. | volume = 21 | issue = 6 | pages = 665–76 | year = 2008 | pmid = 19067971 | doi = 10.1111/j.1755-148X.2008.00505.x }}
6. ^{{cite journal |vauthors=Drögemüller C, Philipp U, Haase B, Günzel-Apel AR, Leeb T | title = A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs | journal = J. Hered. | volume = 98 | issue = 5 | pages = 468–73 | year = 2007 | pmid = 17519392 | doi = 10.1093/jhered/esm021 | url = }}
7. ^{{cite journal |vauthors=Ishida Y, David VA, Eizirik E, Schäffer AA, Neelam BA, Roelke ME, Hannah SS, O'brien SJ, Menotti-Raymond M | title = A homozygous single-base deletion in MLPH causes the dilute coat color phenotype in the domestic cat | journal = Genomics | volume = 88 | issue = 6 | pages = 698–705 |date=December 2006 | pmid = 16860533 | doi = 10.1016/j.ygeno.2006.06.006 | url = }}
8. ^{{cite journal | vauthors = Pickrell JK, Coop G, Novembre J, Kudaravalli S, Li JZ, Absher D, Srinivasan BS, Barsh GS, Myers RM, Feldman MW, Pritchard JK | author11-link = Jonathan K. Pritchard | title = Signals of recent positive selection in a worldwide sample of human populations | journal = Genome Res. | volume = 19 | issue = 5 | pages = 826–37 |date=May 2009 | pmid = 19307593 | pmc = 2675971 | doi = 10.1101/gr.087577.108 | url = }}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Passeron T, Bahadoran P, Bertolotto C, etal |title=Cyclic AMP promotes a peripheral distribution of melanosomes and stimulates melanophilin/Slac2-a and actin association |journal=FASEB J. |volume=18 |issue= 9 |pages= 989–91 |year= 2004 |pmid= 15059972 |doi= 10.1096/fj.03-1240fje }}
  • {{cite journal |author=Fukuda M |title=Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2 |journal=J. Biol. Chem. |volume=278 |issue= 17 |pages= 15373–80 |year= 2003 |pmid= 12578829 |doi= 10.1074/jbc.M212341200 }}
  • {{cite journal |vauthors=Fukuda M, Kuroda TS |title=Slac2-c (synaptotagmin-like protein homologue lacking C2 domains-c), a novel linker protein that interacts with Rab27, myosin Va/VIIa, and actin |journal=J. Biol. Chem. |volume=277 |issue= 45 |pages= 43096–103 |year= 2002 |pmid= 12221080 |doi= 10.1074/jbc.M203862200 }}
  • {{cite journal |vauthors=Westbroek W, Lambert J, Bahadoran P, etal |title=Interactions of human Myosin Va isoforms, endogenously expressed in human melanocytes, are tightly regulated by the tail domain |journal=J. Invest. Dermatol. |volume=120 |issue= 3 |pages= 465–75 |year= 2003 |pmid= 12603861 |doi= 10.1046/j.1523-1747.2003.12068.x }}
  • {{cite journal |vauthors=Fukuda M, Kuroda TS |title=Missense mutations in the globular tail of myosin-Va in dilute mice partially impair binding of Slac2-a/melanophilin |journal=J. Cell Sci. |volume=117 |issue= Pt 4 |pages= 583–91 |year= 2004 |pmid= 14730011 |doi= 10.1242/jcs.00891 }}
  • {{cite journal |vauthors=Seabra MC, Coudrier E |title=Rab GTPases and myosin motors in organelle motility |journal=Traffic |volume=5 |issue= 6 |pages= 393–9 |year= 2004 |pmid= 15117313 |doi= 10.1111/j.1398-9219.2004.00190.x }}
  • {{cite journal |vauthors=Bahadoran P, Busca R, Chiaverini C, etal |title=Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome |journal=J. Biol. Chem. |volume=278 |issue= 13 |pages= 11386–92 |year= 2003 |pmid= 12531900 |doi= 10.1074/jbc.M211996200 }}
  • {{cite journal |vauthors=Wu X, Sakamoto T, Zhang F, etal |title=In vitro reconstitution of a transport complex containing Rab27a, melanophilin and myosin Va |journal=FEBS Lett. |volume=580 |issue= 25 |pages= 5863–8 |year= 2006 |pmid= 17045265 |doi= 10.1016/j.febslet.2006.09.047 }}
  • {{cite journal |vauthors=Ménasché G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, de Saint Basile G | title = Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1) | journal = J. Clin. Invest. | volume = 112 | issue = 3 | pages = 450–6 |date=August 2003 | pmid = 12897212 | pmc = 166299 | doi = 10.1172/JCI18264 | url = }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 |pmc=528928 }}
  • {{cite journal |vauthors=Fukuda M, Kuroda TS, Mikoshiba K |title=Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport |journal=J. Biol. Chem. |volume=277 |issue= 14 |pages= 12432–6 |year= 2002 |pmid= 11856727 |doi= 10.1074/jbc.C200005200 }}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
  • {{cite journal |vauthors=Lukusa T, Vermeesch JR, Holvoet M, etal |title=Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder |journal=Genet. Couns. |volume=15 |issue= 3 |pages= 293–301 |year= 2004 |pmid= 15517821 |doi= }}
  • {{cite journal |vauthors=Clark HF, Gurney AL, Abaya E, etal |title=The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 |pmc=403697 }}
  • {{cite journal |author=Fukuda M |title=Synaptotagmin-like protein (Slp) homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A |journal=J. Biol. Chem. |volume=277 |issue= 42 |pages= 40118–24 |year= 2002 |pmid= 12189142 |doi= 10.1074/jbc.M205765200 }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241 }}
  • {{cite journal |vauthors=Park JW, Cai J, McIntosh I, etal |title=High throughput SNP and expression analyses of candidate genes for non‐syndromic oral clefts |journal=J. Med. Genet. |volume=43 |issue= 7 |pages= 598–608 |year= 2006 |pmid= 16415175 |doi= 10.1136/jmg.2005.040162 |pmc=2564555 }}
{{refend}}

External links

  • {{MeshName|melanophilin+protein,+human}}
{{NLM content}}{{gene-2-stub}}

1 : Human proteins
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