AP3M1 explained

AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.^{[1] [2]}

The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed.

Further reading

• Odorizzi G, Cowles CR, Emr SD . The AP-3 complex: a coat of many colours. . Trends Cell Biol. . 8 . 7 . 282–8 . 1998 . 9714600 . 10.1016/S0962-8924(98)01295-1 .
• Geyer M, Fackler OT, Peterlin BM . Structure--function relationships in HIV-1 Nef. . EMBO Rep. . 2 . 7 . 580–5 . 2001 . 11463741 . 10.1093/embo-reports/kve141 . 1083955 .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery. . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Höning S, Sandoval IV, von Figura K . A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3. . EMBO J. . 17 . 5 . 1304–14 . 1998 . 9482728 . 10.1093/emboj/17.5.1304 . 1170479 .
• Stephens DJ, Banting G . Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120. . 335 . Biochem. J. . (Pt 3) . 3. 567–72 . 1998 . 9794796 . 10.1042/bj3350567. 1219817 .
• Dias Neto E, Correa RG, Verjovski-Almeida S . Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. . Proc. Natl. Acad. Sci. U.S.A. . 97 . 7 . 3491–6 . 2000 . 10737800 . 10.1073/pnas.97.7.3491 . 16267 . 2000PNAS...97.3491D . etal. free .
• Craig HM, Reddy TR, Riggs NL . Interactions of HIV-1 nef with the mu subunits of adaptor protein complexes 1, 2, and 3: role of the dileucine-based sorting motif. . Virology . 271 . 1 . 9–17 . 2000 . 10814565 . 10.1006/viro.2000.0277 . etal. free .
• Drake MT, Zhu Y, Kornfeld S . The assembly of AP-3 adaptor complex-containing clathrin-coated vesicles on synthetic liposomes. . Mol. Biol. Cell . 11 . 11 . 3723–36 . 2001 . 11071902 . 10.1091/mbc.11.11.3723. 15032 .
• Madrid R, Le Maout S, Barrault MB . Polarized trafficking and surface expression of the AQP4 water channel are coordinated by serial and regulated interactions with different clathrin-adaptor complexes. . EMBO J. . 20 . 24 . 7008–21 . 2002 . 11742978 . 10.1093/emboj/20.24.7008 . 125333 . etal.
• Jia L, Young MF, Powell J . Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis. . Genomics . 79 . 1 . 7–17 . 2002 . 11827452 . 10.1006/geno.2001.6683 . etal.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Suzuki Y, Yamashita R, Shirota M . Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. . Genome Res. . 14 . 9 . 1711–8 . 2004 . 15342556 . 10.1101/gr.2435604 . 515316 . etal.
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Coleman SH, Van Damme N, Day JR . Leucine-specific, functional interactions between human immunodeficiency virus type 1 Nef and adaptor protein complexes. . J. Virol. . 79 . 4 . 2066–78 . 2005 . 15681409 . 10.1128/JVI.79.4.2066-2078.2005 . 546596 . etal.

Notes and References

1. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS . Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor . Mol Cell . 3 . 1 . 11–21 . Mar 1999 . 10024875 . 10.1016/S1097-2765(00)80170-7 . free .
2. Web site: Entrez Gene: AP3M1 adaptor-related protein complex 3, mu 1 subunit.