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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_024101 Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

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RefSeq Version NM_024101.5, 109826363
Length 3771 bp
Structure linear
Update Date 17-APR-2013
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 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].


Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

RefSeq NP_077006.1
CDS 228..2030
Misc Feature(1)207..209
Misc Feature(2)207..209
Misc Feature(3)<1587..1760
Misc Feature(4)<1587..1760
Exon (1)1..203
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (2)204..337
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (3)338..559
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (4)560..672
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (5)673..782
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (6)783..902
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (7)903..1107
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (8)1108..1247
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (9)1248..1331
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (10)1332..1517
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (11)1518..1673
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (12)1674..1766
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (13)1767..1844
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (14)1845..1902
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (15)1903..2003
Gene:MLPH
Gene Synonym:SLAC2-A
Exon (16)2004..3756
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
114..126+dbSNP:
114..126+, cctgacgccctggdbSNP:141732125
123+c, gdbSNP:188472124
127+a, gdbSNP:199528173
172+c, gdbSNP:138821909
213+c, tdbSNP:201959025
263+c, tdbSNP:11539364
266+a, gdbSNP:77869297
267+a, gdbSNP:140778893
297+c, tdbSNP:140470472
324+a, gdbSNP:150059253
330+c, tdbSNP:119473031
359+dbSNP:
359+a, gdbSNP:145091337
364+a, cdbSNP:148838629
389+c, tdbSNP:113266104
390+a, gdbSNP:202208516
393+a, gdbSNP:199799204
407+c, tdbSNP:2292878
408+a, gdbSNP:141649649
410+a, gdbSNP:201095796
424+a, gdbSNP:142906980
442+a, gdbSNP:80292002
509+c, tdbSNP:189390602
518+a, gdbSNP:148503864
519+a, gdbSNP:146551411
563+dbSNP:
563+c, tdbSNP:200648474
564+a, gdbSNP:200080796
599+c, tdbSNP:143906191
600+a, gdbSNP:140573748
642+c, tdbSNP:2292880
644+g, tdbSNP:149064335
657+c, tdbSNP:138667878
658+a, gdbSNP:201622639
662+a, gdbSNP:201212831
685+dbSNP:
685+a, gdbSNP:3751109
706+a, gdbSNP:139288665
714+c, tdbSNP:3751108
742+c, tdbSNP:3751107
749+a, gdbSNP:181807989
751+c, tdbSNP:140049313
756+a, gdbSNP:148555053
757+c, tdbSNP:200034833
807+dbSNP:
807+a, gdbSNP:199596806
812+c, tdbSNP:185097415
813+a, gdbSNP:151093322
861+c, gdbSNP:145871473
896+c, tdbSNP:112396926
908+dbSNP:
908+c, tdbSNP:2292881
933+a, gdbSNP:199710882
1000+c, tdbSNP:149540719
1013+a, gdbSNP:148247698
1038+a, gdbSNP:140017366
1043+a, cdbSNP:141984261
1060+c, tdbSNP:139390935
1093+c, tdbSNP:11883500
1094+g, tdbSNP:201830973
1108+dbSNP:
1108+c, gdbSNP:147806726
1176+c, gdbSNP:199717386
1193+c, tdbSNP:75980625
1219+a, gdbSNP:113169138
1232+a, gdbSNP:140358381
1248+dbSNP:
1248+a, tdbSNP:200063207
1267+a, gdbSNP:2292884
1298+c, tdbSNP:77397270
1321+a, cdbSNP:112253113
1348+dbSNP:
1348+c, tdbSNP:3817362
1364+c, tdbSNP:3817363
1398+a, gdbSNP:144852340
1399+a, tdbSNP:61736277
1436+c, tdbSNP:75576106
1441+a, gdbSNP:149905501
1448+a, c, g, tdbSNP:2271809
1449+c, g, tdbSNP:61737681
1458+a, c, gdbSNP:11539365
1467+c, gdbSNP:61737688
1508+a, gdbSNP:202229121
1526+dbSNP:
1526+a, gdbSNP:140569108
1570+c, tdbSNP:149571856
1578+c, tdbSNP:58256353
1642+c, tdbSNP:147497101
1643+a, gdbSNP:139181999
1670+c, tdbSNP:186007833
1671+a, gdbSNP:200350268
1682+dbSNP:
1682+c, tdbSNP:149658556
1685+c, tdbSNP:146669166
1712+c, tdbSNP:113254879
1735+c, tdbSNP:146485666
1736+c, gdbSNP:201166379
1746+c, tdbSNP:143701698
1766+a, gdbSNP:151070956
1773+dbSNP:
1773+a, c, tdbSNP:150184334
1836+a, gdbSNP:200753921
1873+dbSNP:
1873+a, gdbSNP:199994874
1879+c, tdbSNP:143312770
1894+a, gdbSNP:138464383
1937+dbSNP:
1937+a, gdbSNP:41270745
1942+a, gdbSNP:183148581
1963+a, gdbSNP:112172662
1971+a, gdbSNP:201605694
1972+c, tdbSNP:112711398
2000+c, tdbSNP:139682271
2031+dbSNP:
2031+c, tdbSNP:139145016
2049+c, tdbSNP:200811367
2059+c, tdbSNP:11901745
2095+c, gdbSNP:200240032
2119+a, gdbSNP:8260
2120+c, tdbSNP:74815149
2179+g, tdbSNP:1801543
2192+c, tdbSNP:200537607
2218+a, tdbSNP:141796329
2247+a, cdbSNP:1044485
2299+a, gdbSNP:188841860
2335..2336+, agdbSNP:71756616
2424+a, cdbSNP:192679104
2465+a, gdbSNP:150080546
2484+c, gdbSNP:138383975
2520+c, tdbSNP:2325814
2577+a, gdbSNP:2325813
2592+c, tdbSNP:76303511
2603+c, tdbSNP:184909976
2611+c, tdbSNP:73085706
2645+a, gdbSNP:73085707
2676+a, gdbSNP:141595706
2718+a, gdbSNP:188091215
2727+c, tdbSNP:146226614
2728+a, gdbSNP:115612091
2808+c, tdbSNP:180942631
2829+g, tdbSNP:184768403
2838+a, cdbSNP:189387180
2898+a, gdbSNP:55820408
2912+c, tdbSNP:115144647
2997+a, tdbSNP:58528403
3022+c, gdbSNP:4520986
3075+a, gdbSNP:76913089
3180+c, gdbSNP:139694648
3194+g, tdbSNP:12467190
3203+c, gdbSNP:12478298
3273+a, gdbSNP:142987793
3289+c, gdbSNP:144380691
3303+a, cdbSNP:148787507
3480+a, gdbSNP:182089268
3523+c, tdbSNP:114262196
3568+a, gdbSNP:186727053
3576+c, tdbSNP:191925668
3620+c, tdbSNP:142467715
3627+a, tdbSNP:151235200
3670+a, gdbSNP:72988168
3718+a, gdbSNP:201808145
3737+a, cdbSNP:181102435
3755+a, gdbSNP:76711682
Gene SymbolMLPH
Gene SynonymSLAC2-A
Chromosome2
Locus Map2q37.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001042467 Homo sapiens melanophilin (MLPH), transcript variant 2, mRNA. On-demand $849.00 20
NM_024101 Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA. On-demand $849.00 20
Title Cellular and clinical report of new Griscelli syndrome type III cases .
Author Westbroek,W., Klar,A., Cullinane,A.R., Ziegler,S.G., Hurvitz,H., Ganem,A., Wilson,K., Dorward,H., Huizing,M., Tamimi,H., Vainshtein,I., Berkun,Y., Lavie,M., Gahl,W.A. 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,F.R., Berndt,S.I., Siddiq,A., Jacobs,K.B., Wang,Z., Lindstrom,S., Stevens,V.L., Chen,C., Mondul,A.M., Travis,R.C., Stram,D.O., Eeles,R.A., Easton,D.F., Giles,G., Hopper,J.L., Neal,D.E., Hamdy,F.C., Donovan,J.L., Muir,K., Al Olama,A.A., Kote-Jarai,Z., Guy,M., Severi,G., Gronberg,H., Isaacs,W.B., Karlsson,R., Wiklund,F., Xu,J., Allen,N.E., Andriole,G.L., Barricarte,A., Boeing,H., Bueno-de-Mesquita,H.B., Crawford,E.D., Diver,W.R., Gonzalez,C.A., Gaziano,J.M., Giovannucci,E.L., Johansson,M., Le Marchand,L., Ma,J., Sieri,S., Stattin,P., Stampfer,M.J., Tjonneland,A., Vineis,P., Virtamo,J., Vogel,U., Weinstein,S.J., Yeager,M., Thun,M.J., Kolonel,L.N., Henderson,B.E., Albanes,D., Hayes,R.B., Feigelson,H.S., Riboli,E., Hunter,D.J., Chanock,S.J., Haiman,C.A. 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,J.W., Cai,J., McIntosh,I., Jabs,E.W., Fallin,M.D., Ingersoll,R., Hetmanski,J.B., Vekemans,M., Attie-Bitach,T., Lovett,M., Scott,A.F. and Beaty,T.H.
Journal J. Med. Genet. 43 (7), 598-608 (2006)
Title Rab GTPases and myosin motors in organelle motility .
Author Seabra,M.C. 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,J.R., Holvoet,M., Fryns,J.P. 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,A.N., Tarafder,A.K., Barkagianni,E. and Seabra,M.C.
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,T.S. 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,L.E., Yip,R., Reuss,A.E., Swing,D.A., O'Sullivan,T.N., Fletcher,C.F., Copeland,N.G. and Jenkins,N.A.
Journal Proc. Natl. Acad. Sci. U.S.A. 98 (18), 10238-10243 (2001)


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