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Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu00622 Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu00622C Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_024101.6, 527317391
Length 1803 bp
Structure linear
Update Date 18-FEB-2014
Organism Homo sapiens (human)
Definition Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.
Product melanophilin isoform 1
Comment

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].


Transcript Variant: This variant (1) encodes the longest isoform (1).

RefSeq NP_077006.1
CDS 244..2046
Misc Feature(1)223..225
Misc Feature(2)223..225
Misc Feature(3)265..618
Misc Feature(4)265..618
Misc Feature(5)<1612..1779
Exon (1)1..219
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (2)220..353
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (3)354..575
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (4)576..688
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (5)689..798
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (6)799..918
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (7)919..1123
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (8)1124..1263
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (9)1264..1347
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (10)1348..1533
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (11)1534..1689
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (12)1690..1782
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (13)1783..1860
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (14)1861..1918
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (15)1919..2019
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (16)2020..3772
Gene:MLPH
Gene Synonym:SLAC2-A
Translation MGKKLDLSKLTDEEAQHVLEVVQRDFDLRRKEEERLEALKGKIKKESSKRELLSDTAHLN ETHCARCLQPYQLLVNSKRQCLECGLFTCKSCGRVHPEEQGWICDPCHLARVVKIGSLEW YYEHVKARFKRFGSAKVIRSLHGRLQGGAGPELISEERSGDSDQTDEDGEPGSEAQAQAQ PFGSKKKRLLSVHDFDFEGDSDDSTQPQGHSLHLSSVPEARDSPQSLTDESCSEKAAPHK AEGLEEADTGASGCHSHPEEQPTSISPSRHGALAELCPPGGSHRMALGTAAALGSNVIRN EQLPLQYLADVDTSDEESIRAHVMASHHSKRRGRASSESQIFELNKHISAVECLLTYLEN TVVPPLAKGLGAGVRTEADVEEEALRRKLEELTSNVSDQETSSEEEEAKDEKAEPNRDKS VGPLPQADPEVGTAAHQTNRQEKSPQDPGDPVQYNRTTDEELSELEDRVAVTASEVQQAE SEVSDIESRIAALRAAGLTVKPSGKPRRKSNLPIFLPRVAGKLGKRPEDPNADPSSEAKA MAVPYLLRRKFSNSLKSQGKDDDSFDRKSVYRGSLTQRNPNARKGMASHTFAKPVVAHQS
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Position Chain Variation Link
10+dbSNP:
10+a, gdbSNP:1574529
Gene SymbolMLPH
Gene SynonymSLAC2-A
Chromosome2
Locus Map2q37.3
Title Cellular and clinical report of new Griscelli syndrome type III cases .
Author Westbroek W, Klar A, Cullinane AR, Ziegler SG, Hurvitz H, Ganem A, Wilson K, Dorward H, Huizing M, Tamimi H, Vainshtein I, Berkun Y, Lavie M, Gahl WA and Anikster Y.
Journal Pigment Cell Melanoma Res 25 (1), 47-56 (2012)
Title Genome-wide association study identifies new prostate cancer susceptibility loci .
Author Schumacher FR, Berndt SI, Siddiq A, Jacobs KB, Wang Z, Lindstrom S, Stevens VL, Chen C, Mondul AM, Travis RC, Stram DO, Eeles RA, Easton DF, Giles G, Hopper JL, Neal DE, Hamdy FC, Donovan JL, Muir K, Al Olama AA, Kote-Jarai Z, Guy M, Severi G, Gronberg H, Isaacs WB, Karlsson R, Wiklund F, Xu J, Allen NE, Andriole GL, Barricarte A, Boeing H, Bueno-de-Mesquita HB, Crawford ED, Diver WR, Gonzalez CA, Gaziano JM, Giovannucci EL, Johansson M, Le Marchand L, Ma J, Sieri S, Stattin P, Stampfer MJ, Tjonneland A, Vineis P, Virtamo J, Vogel U, Weinstein SJ, Yeager M, Thun MJ, Kolonel LN, Henderson BE, Albanes D, Hayes RB, Feigelson HS, Riboli E, Hunter DJ, Chanock SJ, Haiman CA and Kraft P.
Journal Hum. Mol. Genet. 20 (19), 3867-3875 (2011)
Title High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts .
Author Park JW, Cai J, McIntosh I, Jabs EW, Fallin MD, Ingersoll R, Hetmanski JB, Vekemans M, Attie-Bitach T, Lovett M, Scott AF and Beaty TH.
Journal J. Med. Genet. 43 (7), 598-608 (2006)
Title Rab GTPases and myosin motors in organelle motility .
Author Seabra MC and Coudrier E.
Journal Traffic 5 (6), 393-399 (2004)
Title Deletion 2q37.3 and autism: molecular cytogenetic mapping of the candidate region for autistic disorder .
Author Lukusa T, Vermeesch JR, Holvoet M, Fryns JP and Devriendt K.
Journal Genet. Couns. 15 (3), 293-301 (2004)
Title Synaptotagmin-like protein (Slp) homology domain 1 of Slac2-a/melanophilin is a critical determinant of GTP-dependent specific binding to Rab27A .
Author Fukuda M.
Journal J. Biol. Chem. 277 (42), 40118-40124 (2002)
Title A family of Rab27-binding proteins. Melanophilin links Rab27a and myosin Va function in melanosome transport .
Author Strom M, Hume AN, Tarafder AK, Barkagianni E and Seabra MC.
Journal J. Biol. Chem. 277 (28), 25423-25430 (2002)
Title Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions .
Author Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K, Takeuchi T and Izumi T.
Journal FEBS Lett. 517 (1-3), 233-238 (2002)
Title Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport .
Author Fukuda M, Kuroda TS and Mikoshiba K.
Journal J. Biol. Chem. 277 (14), 12432-12436 (2002)
Title Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice .
Author Matesic LE, Yip R, Reuss AE, Swing DA, O'Sullivan TN, Fletcher CF, Copeland NG and Jenkins NA.
Journal Proc. Natl. Acad. Sci. U.S.A. 98 (18), 10238-10243 (2001)

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