Protein-coding gene in the species Homo sapiens
AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene .[5] [6]
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.[6]
References External links Further reading
Odorizzi G, Cowles CR, Emr SD (1998). "The AP-3 complex: a coat of many colours". Trends Cell Biol . 8 (7): 282–8. doi :10.1016/S0962-8924(98)01295-1 . PMID 9714600 . Geyer M, Fackler OT, Peterlin BM (2001). "Structure--function relationships in HIV-1 Nef" . EMBO Rep . 2 (7): 580–5. doi :10.1093/embo-reports/kve141 . PMC 1083955 PMID 11463741 . Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery" . Genome Res . 6 (9): 791–806. doi :10.1101/gr.6.9.791 PMID 8889548 . Höning S, Sandoval IV, von Figura K (1998). "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. doi :10.1093/emboj/17.5.1304 . PMC 1170479 PMID 9482728 . Stephens DJ, Banting G (1998). "Specificity of interaction between adaptor-complex medium chains and the tyrosine-based sorting motifs of TGN38 and lgp120" . Biochem. J . 335. ( Pt 3) (3): 567–72. doi :10.1042/bj3350567 . PMC 1219817 PMID 9794796 . Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags" . Proc. Natl. Acad. Sci. U.S.A . 97 (7): 3491–6. Bibcode :2000PNAS...97.3491D . doi :10.1073/pnas.97.7.3491 PMC 16267 PMID 10737800 . Craig HM, Reddy TR, Riggs NL, et al. (2000). "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. doi :10.1006/viro.2000.0277 PMID 10814565 . Drake MT, Zhu Y, Kornfeld S (2001). "The assembly of AP-3 adaptor complex-containing clathrin-coated vesicles on synthetic liposomes" . Mol. Biol. Cell . 11 (11): 3723–36. doi :10.1091/mbc.11.11.3723 . PMC 15032 PMID 11071902 . Madrid R, Le Maout S, Barrault MB, et al. (2002). "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. doi :10.1093/emboj/20.24.7008 . PMC 125333 PMID 11742978 . Jia L, Young MF, Powell J, et al. (2002). "Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis" . Genomics . 79 (1): 7–17. doi :10.1006/geno.2001.6683 . PMID 11827452 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . 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. doi :10.1038/ng1285 PMID 14702039 . Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions" . Genome Res . 14 (9): 1711–8. doi :10.1101/gr.2435604 . PMC 515316 PMID 15342556 . 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. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Coleman SH, Van Damme N, Day JR, et al. (2005). "Leucine-specific, functional interactions between human immunodeficiency virus type 1 Nef and adaptor protein complexes" . J. Virol . 79 (4): 2066–78. doi :10.1128/JVI.79.4.2066-2078.2005 . PMC 546596 PMID 15681409 .
